Mutagenetix > Incidental Mutation

Incidental Mutation 'R0479:Sacs'

43311

Institutional Source

Beutler Lab

Gene Symbol

Sacs

Ensembl Gene

ENSMUSG00000048279

Gene Name

sacsin

Synonyms

E130115J16Rik

MMRRC Submission

038679-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0479 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

61375906-61478144 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61428928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 329 (L329Q)

Ref Sequence

ENSEMBL: ENSMUSP00000113377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089394] [ENSMUST00000119509] [ENSMUST00000119943] [ENSMUST00000121091] [ENSMUST00000227570] [ENSMUST00000229692]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089394
AA Change: L329Q

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000086816
Gene: ENSMUSG00000048279
AA Change: L329Q

Domain	Start	End	E-Value	Type
SCOP:d1lm8b_	8	66	3e-3	SMART
Blast:UBQ	9	81	3e-31	BLAST
Blast:HATPase_c	116	211	2e-10	BLAST
low complexity region	608	623	N/A	INTRINSIC
low complexity region	664	673	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119509
AA Change: L329Q

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113007
Gene: ENSMUSG00000048279
AA Change: L329Q

Domain	Start	End	E-Value	Type
SCOP:d1lm8b_	8	66	3e-3	SMART
Blast:UBQ	9	81	3e-31	BLAST
SCOP:d1byqa_	87	202	5e-3	SMART
Blast:HATPase_c	116	211	2e-10	BLAST
low complexity region	608	623	N/A	INTRINSIC
low complexity region	664	673	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119943
AA Change: L329Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113377
Gene: ENSMUSG00000048279
AA Change: L329Q

Domain	Start	End	E-Value	Type
internal_repeat_1	61	514	1.35e-52	PROSPERO
low complexity region	608	623	N/A	INTRINSIC
low complexity region	664	673	N/A	INTRINSIC
low complexity region	1019	1033	N/A	INTRINSIC
low complexity region	1131	1145	N/A	INTRINSIC
low complexity region	1526	1537	N/A	INTRINSIC
low complexity region	2454	2463	N/A	INTRINSIC
internal_repeat_1	2475	2934	1.35e-52	PROSPERO
low complexity region	3751	3760	N/A	INTRINSIC
low complexity region	3997	4012	N/A	INTRINSIC
low complexity region	4285	4300	N/A	INTRINSIC
Blast:DnaJ	4304	4363	1e-31	BLAST
PDB:1IUR\|A	4309	4376	5e-39	PDB
SCOP:d1gh6a_	4317	4407	2e-3	SMART
HEPN	4454	4570	9.49e-24	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000121091
AA Change: L326Q

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113925
Gene: ENSMUSG00000048279
AA Change: L326Q

Domain	Start	End	E-Value	Type
SCOP:d1lm8b_	5	63	3e-3	SMART
Blast:UBQ	6	78	4e-31	BLAST
SCOP:d1byqa_	84	199	4e-3	SMART
Blast:HATPase_c	113	208	2e-10	BLAST
low complexity region	605	620	N/A	INTRINSIC
low complexity region	661	670	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150222

Predicted Effect

probably benign
Transcript: ENSMUST00000227570

Predicted Effect

probably benign
Transcript: ENSMUST00000229692

Meta Mutation Damage Score

0.2403

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.6%

Validation Efficiency

98% (105/107)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knockout allele exhibit Purkinje cell degeneration with thickened tortuous dendrites and altered mitochondrial dysfunction. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	A	G	1: 173,159,712 (GRCm39)	V269A	probably benign	Het
Acsl1	G	A	8: 46,984,109 (GRCm39)	G543R	probably damaging	Het
Adam18	T	C	8: 25,141,838 (GRCm39)	N244D	probably benign	Het
Adgra3	C	T	5: 50,147,607 (GRCm39)	V478M	probably benign	Het
Arhgap39	C	T	15: 76,619,086 (GRCm39)	D833N	probably damaging	Het
Arhgef10	A	T	8: 15,041,070 (GRCm39)	E723V	probably damaging	Het
Arid3a	C	A	10: 79,787,128 (GRCm39)	N519K	possibly damaging	Het
Atrn	T	A	2: 130,841,085 (GRCm39)	Y1162*	probably null	Het
Cacng5	T	A	11: 107,768,777 (GRCm39)	N172Y	probably benign	Het
Cct8	C	T	16: 87,284,594 (GRCm39)	V198M	probably damaging	Het
Cep192	G	A	18: 67,991,089 (GRCm39)	S1857N	probably damaging	Het
Cherp	A	T	8: 73,216,991 (GRCm39)	D657E	possibly damaging	Het
Clca3a2	T	G	3: 144,796,610 (GRCm39)	D199A	probably damaging	Het
Cops7b	A	G	1: 86,532,798 (GRCm39)	T219A	probably benign	Het
Crb1	C	T	1: 139,126,352 (GRCm39)	M1392I	probably damaging	Het
Csf3r	A	C	4: 125,937,616 (GRCm39)	E833D	probably damaging	Het
Cutc	A	G	19: 43,756,655 (GRCm39)	E247G	probably damaging	Het
Cyp2c38	A	G	19: 39,451,449 (GRCm39)	L17P	probably damaging	Het
D5Ertd615e	T	A	5: 45,320,796 (GRCm39)		noncoding transcript	Het
Ddx60	G	T	8: 62,422,691 (GRCm39)	G643W	probably damaging	Het
Depdc1a	C	T	3: 159,226,497 (GRCm39)	T268I	probably damaging	Het
Dgke	T	C	11: 88,943,296 (GRCm39)	E231G	probably benign	Het
Dhrs7b	T	A	11: 60,746,513 (GRCm39)		probably benign	Het
Dll3	A	G	7: 28,000,974 (GRCm39)	V27A	probably damaging	Het
Dnmt3c	T	A	2: 153,556,861 (GRCm39)		probably null	Het
Duox1	T	C	2: 122,176,861 (GRCm39)	F1461L	probably damaging	Het
Enpep	A	G	3: 129,106,323 (GRCm39)	V301A	possibly damaging	Het
Eny2	T	A	15: 44,299,000 (GRCm39)		probably null	Het
Esr1	A	G	10: 4,947,911 (GRCm39)	D488G	probably damaging	Het
Ets1	A	G	9: 32,641,476 (GRCm39)	K110E	probably damaging	Het
Eya2	T	A	2: 165,557,876 (GRCm39)	Y157*	probably null	Het
F830045P16Rik	T	G	2: 129,314,608 (GRCm39)	D223A	possibly damaging	Het
Fbh1	A	G	2: 11,763,230 (GRCm39)	Y475H	probably damaging	Het
Fbxo39	T	C	11: 72,208,419 (GRCm39)	I257T	probably damaging	Het
Fkbp10	T	C	11: 100,306,740 (GRCm39)	V23A	probably damaging	Het
Foxp3	A	G	X: 7,453,583 (GRCm39)	I128V	possibly damaging	Het
Fzd7	T	C	1: 59,522,867 (GRCm39)	F250S	probably damaging	Het
Gaa	A	G	11: 119,172,062 (GRCm39)	T722A	possibly damaging	Het
Gemin5	A	G	11: 58,030,377 (GRCm39)	V816A	probably benign	Het
Glb1l3	T	A	9: 26,740,389 (GRCm39)	T314S	probably benign	Het
H2-Ab1	A	G	17: 34,483,942 (GRCm39)	E101G	possibly damaging	Het
Hydin	A	C	8: 111,325,720 (GRCm39)	T4710P	probably damaging	Het
Ica1	C	T	6: 8,754,627 (GRCm39)	V48M	probably damaging	Het
Ica1	T	C	6: 8,754,683 (GRCm39)	Y29C	probably damaging	Het
Ints7	T	A	1: 191,346,666 (GRCm39)		probably null	Het
Iqub	T	C	6: 24,505,809 (GRCm39)	E33G	probably benign	Het
Itgb1bp2	T	A	X: 100,492,806 (GRCm39)	C10S	probably damaging	Het
Katnip	T	C	7: 125,442,518 (GRCm39)	L809S	probably benign	Het
Kcnd1	T	A	X: 7,697,461 (GRCm39)	I391N	possibly damaging	Het
Kdm8	T	C	7: 125,051,812 (GRCm39)	L135P	probably damaging	Het
Ksr1	T	C	11: 78,916,109 (GRCm39)	D574G	probably damaging	Het
Lama5	C	T	2: 179,826,250 (GRCm39)	R2331H	probably benign	Het
Larp1	C	A	11: 57,933,646 (GRCm39)	N357K	possibly damaging	Het
Lgi3	C	T	14: 70,771,992 (GRCm39)		probably benign	Het
Lmbrd1	T	A	1: 24,785,878 (GRCm39)		probably benign	Het
Methig1	A	T	15: 100,272,825 (GRCm39)	K53*	probably null	Het
Mfap3	T	A	11: 57,420,469 (GRCm39)	I150N	probably damaging	Het
Mug1	A	T	6: 121,817,186 (GRCm39)	Q85L	probably benign	Het
Npl	A	G	1: 153,391,155 (GRCm39)	V200A	probably damaging	Het
Nuf2	A	T	1: 169,326,503 (GRCm39)		probably benign	Het
Obscn	A	G	11: 59,003,533 (GRCm39)	V1255A	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or5h18	C	T	16: 58,847,491 (GRCm39)	V260M	possibly damaging	Het
Or8b51	T	C	9: 38,569,478 (GRCm39)	D70G	probably damaging	Het
P2rx1	T	C	11: 72,903,787 (GRCm39)	V283A	probably damaging	Het
Pex2	C	A	3: 5,626,355 (GRCm39)	L151F	probably damaging	Het
Pias1	A	G	9: 62,800,400 (GRCm39)		probably benign	Het
Pmfbp1	A	T	8: 110,257,105 (GRCm39)		probably benign	Het
Pogz	A	G	3: 94,783,947 (GRCm39)	K545E	possibly damaging	Het
Ppp3cb	T	C	14: 20,553,309 (GRCm39)		probably null	Het
Prl	G	A	13: 27,248,911 (GRCm39)	D189N	probably damaging	Het
Prpf6	A	G	2: 181,292,920 (GRCm39)	N794S	probably benign	Het
Prr36	G	A	8: 4,263,930 (GRCm39)	Q579*	probably null	Het
Ptprq	A	T	10: 107,479,855 (GRCm39)	Y1138*	probably null	Het
Rabepk	A	T	2: 34,675,592 (GRCm39)	H179Q	probably damaging	Het
Rest	T	C	5: 77,430,598 (GRCm39)	S1006P	probably damaging	Het
Rimklb	A	C	6: 122,441,175 (GRCm39)		probably benign	Het
Rnpepl1	T	C	1: 92,846,587 (GRCm39)		probably benign	Het
Ro60	A	T	1: 143,633,489 (GRCm39)	D536E	possibly damaging	Het
Safb	C	T	17: 56,913,025 (GRCm39)	R914C	probably damaging	Het
Setd5	A	T	6: 113,091,994 (GRCm39)	I272F	probably damaging	Het
Sgk1	G	T	10: 21,872,209 (GRCm39)	A262S	probably benign	Het
Skint2	G	A	4: 112,481,238 (GRCm39)	V34I	possibly damaging	Het
Skint5	G	C	4: 113,512,869 (GRCm39)	Q888E	unknown	Het
Slc4a3	T	C	1: 75,528,472 (GRCm39)		probably benign	Het
Sox10	T	C	15: 79,047,519 (GRCm39)	E133G	probably damaging	Het
Spryd3	G	A	15: 102,038,835 (GRCm39)	R129*	probably null	Het
Stag1	T	A	9: 100,810,144 (GRCm39)	N782K	probably benign	Het
Stam	T	C	2: 14,122,306 (GRCm39)	L132P	probably damaging	Het
Stard9	T	A	2: 120,528,077 (GRCm39)	S1445T	probably damaging	Het
Syt5	C	T	7: 4,546,108 (GRCm39)	R94Q	probably benign	Het
Tbc1d23	A	T	16: 56,992,177 (GRCm39)	H594Q	probably damaging	Het
Tecta	T	A	9: 42,249,235 (GRCm39)	I1871F	probably damaging	Het
Tek	A	G	4: 94,692,549 (GRCm39)	D219G	probably benign	Het
Thrb	T	C	14: 18,033,643 (GRCm38)	F469L	probably damaging	Het
Tyr	T	C	7: 87,142,429 (GRCm39)	S44G	possibly damaging	Het
Usp20	T	A	2: 30,907,487 (GRCm39)	V673E	probably benign	Het
Usp28	T	C	9: 48,948,513 (GRCm39)	S873P	probably damaging	Het
Usp43	C	T	11: 67,788,100 (GRCm39)	V306M	possibly damaging	Het
Wdr17	G	T	8: 55,104,456 (GRCm39)		probably null	Het
Wsb2	T	G	5: 117,514,744 (GRCm39)		probably benign	Het
Xkrx	A	T	X: 133,051,715 (GRCm39)	L312Q	probably damaging	Het

Other mutations in Sacs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01540:Sacs	APN	14	61,429,084 (GRCm39)	missense	possibly damaging	0.64
IGL01839:Sacs	APN	14	61,421,394 (GRCm39)	intron	probably benign
IGL02024:Sacs	APN	14	61,427,127 (GRCm39)	missense	probably damaging	0.96
IGL02247:Sacs	APN	14	61,429,984 (GRCm39)	missense	probably damaging	1.00
BB009:Sacs	UTSW	14	61,442,327 (GRCm39)	missense	probably damaging	0.99
BB019:Sacs	UTSW	14	61,442,327 (GRCm39)	missense	probably damaging	0.99
F6893:Sacs	UTSW	14	61,450,425 (GRCm39)	missense	probably benign
IGL03052:Sacs	UTSW	14	61,445,307 (GRCm39)	missense	probably damaging	0.99
R0090:Sacs	UTSW	14	61,442,889 (GRCm39)	missense	probably damaging	1.00
R0102:Sacs	UTSW	14	61,442,017 (GRCm39)	missense	probably damaging	1.00
R0102:Sacs	UTSW	14	61,442,017 (GRCm39)	missense	probably damaging	1.00
R0390:Sacs	UTSW	14	61,443,089 (GRCm39)	missense	possibly damaging	0.92
R0556:Sacs	UTSW	14	61,421,407 (GRCm39)	missense	probably damaging	0.99
R0673:Sacs	UTSW	14	61,447,664 (GRCm39)	missense	possibly damaging	0.89
R0748:Sacs	UTSW	14	61,446,714 (GRCm39)	missense	probably damaging	0.99
R0931:Sacs	UTSW	14	61,440,944 (GRCm39)	missense	probably benign
R0972:Sacs	UTSW	14	61,449,412 (GRCm39)	nonsense	probably null
R1281:Sacs	UTSW	14	61,429,250 (GRCm39)	missense	probably benign	0.02
R1340:Sacs	UTSW	14	61,441,958 (GRCm39)	missense	probably damaging	0.98
R1351:Sacs	UTSW	14	61,440,210 (GRCm39)	missense	probably benign	0.00
R1499:Sacs	UTSW	14	61,451,153 (GRCm39)	missense	possibly damaging	0.70
R1538:Sacs	UTSW	14	61,447,508 (GRCm39)	missense	probably damaging	0.98
R1581:Sacs	UTSW	14	61,451,128 (GRCm39)	missense	probably damaging	0.96
R1599:Sacs	UTSW	14	61,441,087 (GRCm39)	missense	probably benign
R1631:Sacs	UTSW	14	61,448,181 (GRCm39)	nonsense	probably null
R1635:Sacs	UTSW	14	61,441,277 (GRCm39)	missense	probably damaging	0.98
R1655:Sacs	UTSW	14	61,429,231 (GRCm39)	missense	probably benign
R1660:Sacs	UTSW	14	61,446,458 (GRCm39)	missense	probably damaging	0.99
R1707:Sacs	UTSW	14	61,447,211 (GRCm39)	missense	probably benign	0.01
R1733:Sacs	UTSW	14	61,442,903 (GRCm39)	missense	probably damaging	1.00
R1772:Sacs	UTSW	14	61,448,346 (GRCm39)	missense	probably damaging	1.00
R1976:Sacs	UTSW	14	61,440,344 (GRCm39)	missense	probably benign
R2055:Sacs	UTSW	14	61,451,498 (GRCm39)	missense	probably damaging	0.97
R2083:Sacs	UTSW	14	61,443,955 (GRCm39)	missense	possibly damaging	0.69
R2091:Sacs	UTSW	14	61,429,368 (GRCm39)	missense	possibly damaging	0.95
R2105:Sacs	UTSW	14	61,410,890 (GRCm39)	missense	possibly damaging	0.90
R2109:Sacs	UTSW	14	61,410,902 (GRCm39)	splice site	probably null
R2117:Sacs	UTSW	14	61,451,220 (GRCm39)	missense	probably benign	0.01
R2122:Sacs	UTSW	14	61,449,765 (GRCm39)	missense	probably damaging	1.00
R2148:Sacs	UTSW	14	61,410,827 (GRCm39)	missense	probably damaging	0.97
R2151:Sacs	UTSW	14	61,447,089 (GRCm39)	missense	probably damaging	1.00
R2231:Sacs	UTSW	14	61,443,378 (GRCm39)	splice site	probably null
R2248:Sacs	UTSW	14	61,450,251 (GRCm39)	missense	probably damaging	1.00
R2271:Sacs	UTSW	14	61,442,109 (GRCm39)	missense	probably benign	0.06
R2314:Sacs	UTSW	14	61,445,208 (GRCm39)	missense	probably benign	0.17
R2436:Sacs	UTSW	14	61,440,354 (GRCm39)	missense	possibly damaging	0.94
R2445:Sacs	UTSW	14	61,442,655 (GRCm39)	missense	probably damaging	1.00
R2512:Sacs	UTSW	14	61,440,529 (GRCm39)	missense	probably benign	0.00
R3434:Sacs	UTSW	14	61,449,752 (GRCm39)	missense	probably damaging	1.00
R3785:Sacs	UTSW	14	61,421,410 (GRCm39)	missense	probably damaging	1.00
R3786:Sacs	UTSW	14	61,421,410 (GRCm39)	missense	probably damaging	1.00
R3796:Sacs	UTSW	14	61,443,570 (GRCm39)	missense	possibly damaging	0.87
R3798:Sacs	UTSW	14	61,443,570 (GRCm39)	missense	possibly damaging	0.87
R3872:Sacs	UTSW	14	61,385,517 (GRCm39)	missense	probably benign	0.30
R3873:Sacs	UTSW	14	61,429,735 (GRCm39)	missense	possibly damaging	0.64
R3892:Sacs	UTSW	14	61,441,836 (GRCm39)	missense	probably damaging	0.98
R4184:Sacs	UTSW	14	61,451,393 (GRCm39)	missense	probably damaging	0.97
R4204:Sacs	UTSW	14	61,410,892 (GRCm39)	missense	possibly damaging	0.93
R4249:Sacs	UTSW	14	61,440,906 (GRCm39)	missense	probably benign	0.02
R4256:Sacs	UTSW	14	61,443,786 (GRCm39)	missense	probably damaging	1.00
R4370:Sacs	UTSW	14	61,449,758 (GRCm39)	missense	probably damaging	1.00
R4445:Sacs	UTSW	14	61,442,135 (GRCm39)	missense	probably benign	0.30
R4503:Sacs	UTSW	14	61,445,052 (GRCm39)	missense	probably damaging	1.00
R4548:Sacs	UTSW	14	61,429,387 (GRCm39)	missense	probably damaging	1.00
R4582:Sacs	UTSW	14	61,429,147 (GRCm39)	missense	probably damaging	1.00
R4613:Sacs	UTSW	14	61,449,246 (GRCm39)	splice site	probably null
R4639:Sacs	UTSW	14	61,444,717 (GRCm39)	missense	probably benign	0.12
R4697:Sacs	UTSW	14	61,450,196 (GRCm39)	missense	probably benign	0.19
R4706:Sacs	UTSW	14	61,441,722 (GRCm39)	missense	probably damaging	1.00
R4717:Sacs	UTSW	14	61,450,304 (GRCm39)	missense	probably damaging	1.00
R4777:Sacs	UTSW	14	61,449,258 (GRCm39)	missense	probably damaging	1.00
R4888:Sacs	UTSW	14	61,449,647 (GRCm39)	missense	probably damaging	1.00
R4913:Sacs	UTSW	14	61,451,246 (GRCm39)	missense	probably benign	0.17
R4973:Sacs	UTSW	14	61,450,571 (GRCm39)	missense	probably damaging	1.00
R4986:Sacs	UTSW	14	61,450,492 (GRCm39)	nonsense	probably null
R5090:Sacs	UTSW	14	61,442,702 (GRCm39)	missense	probably damaging	1.00
R5243:Sacs	UTSW	14	61,443,406 (GRCm39)	nonsense	probably null
R5292:Sacs	UTSW	14	61,449,432 (GRCm39)	missense	probably damaging	1.00
R5308:Sacs	UTSW	14	61,429,849 (GRCm39)	missense	probably benign	0.21
R5337:Sacs	UTSW	14	61,430,963 (GRCm39)	intron	probably benign
R5502:Sacs	UTSW	14	61,443,549 (GRCm39)	missense	probably damaging	1.00
R5586:Sacs	UTSW	14	61,443,890 (GRCm39)	nonsense	probably null
R5692:Sacs	UTSW	14	61,445,288 (GRCm39)	missense	probably benign	0.00
R5725:Sacs	UTSW	14	61,448,559 (GRCm39)	missense	probably damaging	1.00
R5854:Sacs	UTSW	14	61,448,996 (GRCm39)	missense	probably damaging	1.00
R5959:Sacs	UTSW	14	61,449,849 (GRCm39)	missense	probably damaging	0.99
R5960:Sacs	UTSW	14	61,446,144 (GRCm39)	missense	probably benign	0.30
R5968:Sacs	UTSW	14	61,427,078 (GRCm39)	missense	probably damaging	0.99
R5983:Sacs	UTSW	14	61,442,648 (GRCm39)	missense	probably damaging	1.00
R5992:Sacs	UTSW	14	61,442,992 (GRCm39)	missense	probably damaging	1.00
R6076:Sacs	UTSW	14	61,441,985 (GRCm39)	nonsense	probably null
R6175:Sacs	UTSW	14	61,450,275 (GRCm39)	missense	possibly damaging	0.82
R6347:Sacs	UTSW	14	61,448,609 (GRCm39)	missense	probably damaging	1.00
R6357:Sacs	UTSW	14	61,446,273 (GRCm39)	missense	possibly damaging	0.47
R6415:Sacs	UTSW	14	61,442,808 (GRCm39)	missense	probably damaging	1.00
R6469:Sacs	UTSW	14	61,428,697 (GRCm39)	missense	probably damaging	1.00
R6503:Sacs	UTSW	14	61,448,810 (GRCm39)	missense	probably benign	0.00
R6523:Sacs	UTSW	14	61,440,410 (GRCm39)	missense	probably damaging	0.99
R6615:Sacs	UTSW	14	61,446,383 (GRCm39)	missense	probably benign	0.15
R6729:Sacs	UTSW	14	61,447,967 (GRCm39)	missense	probably damaging	1.00
R6731:Sacs	UTSW	14	61,418,149 (GRCm39)	splice site	probably null
R6797:Sacs	UTSW	14	61,450,522 (GRCm39)	missense	probably damaging	1.00
R6852:Sacs	UTSW	14	61,416,737 (GRCm39)	missense	possibly damaging	0.87
R6922:Sacs	UTSW	14	61,448,874 (GRCm39)	missense	probably damaging	1.00
R7023:Sacs	UTSW	14	61,446,264 (GRCm39)	missense	probably benign	0.04
R7047:Sacs	UTSW	14	61,450,451 (GRCm39)	missense	probably damaging	1.00
R7051:Sacs	UTSW	14	61,446,377 (GRCm39)	missense	probably benign	0.25
R7069:Sacs	UTSW	14	61,449,945 (GRCm39)	missense	probably damaging	1.00
R7082:Sacs	UTSW	14	61,447,966 (GRCm39)	missense	possibly damaging	0.94
R7108:Sacs	UTSW	14	61,448,458 (GRCm39)	nonsense	probably null
R7122:Sacs	UTSW	14	61,447,845 (GRCm39)	missense	probably damaging	1.00
R7194:Sacs	UTSW	14	61,447,538 (GRCm39)	missense	possibly damaging	0.95
R7214:Sacs	UTSW	14	61,429,241 (GRCm39)	missense	probably benign
R7221:Sacs	UTSW	14	61,446,255 (GRCm39)	missense	probably damaging	0.99
R7274:Sacs	UTSW	14	61,451,530 (GRCm39)	missense	possibly damaging	0.88
R7344:Sacs	UTSW	14	61,444,893 (GRCm39)	missense	possibly damaging	0.81
R7440:Sacs	UTSW	14	61,429,054 (GRCm39)	missense	probably benign	0.10
R7474:Sacs	UTSW	14	61,448,627 (GRCm39)	missense	probably benign	0.04
R7512:Sacs	UTSW	14	61,441,879 (GRCm39)	missense	probably benign	0.04
R7641:Sacs	UTSW	14	61,440,320 (GRCm39)	missense	probably damaging	0.97
R7649:Sacs	UTSW	14	61,440,677 (GRCm39)	missense	possibly damaging	0.53
R7703:Sacs	UTSW	14	61,443,539 (GRCm39)	missense	possibly damaging	0.81
R7792:Sacs	UTSW	14	61,447,222 (GRCm39)	missense	probably benign	0.00
R7805:Sacs	UTSW	14	61,441,040 (GRCm39)	missense	not run
R7822:Sacs	UTSW	14	61,429,652 (GRCm39)	missense	probably benign	0.03
R7882:Sacs	UTSW	14	61,444,520 (GRCm39)	missense	probably benign	0.02
R7932:Sacs	UTSW	14	61,442,327 (GRCm39)	missense	probably damaging	0.99
R8031:Sacs	UTSW	14	61,441,640 (GRCm39)	missense	probably damaging	0.96
R8064:Sacs	UTSW	14	61,429,624 (GRCm39)	missense	possibly damaging	0.92
R8083:Sacs	UTSW	14	61,448,166 (GRCm39)	missense	possibly damaging	0.77
R8204:Sacs	UTSW	14	61,450,397 (GRCm39)	missense	probably damaging	0.96
R8293:Sacs	UTSW	14	61,428,548 (GRCm39)	missense	probably damaging	0.99
R8316:Sacs	UTSW	14	61,427,068 (GRCm39)	missense	possibly damaging	0.84
R8393:Sacs	UTSW	14	61,410,655 (GRCm39)	start codon destroyed	probably null	0.06
R8434:Sacs	UTSW	14	61,450,636 (GRCm39)	nonsense	probably null
R8482:Sacs	UTSW	14	61,440,404 (GRCm39)	missense	probably benign
R8497:Sacs	UTSW	14	61,429,702 (GRCm39)	missense	probably benign	0.00
R8557:Sacs	UTSW	14	61,444,725 (GRCm39)	missense	probably damaging	1.00
R8698:Sacs	UTSW	14	61,450,802 (GRCm39)	missense	probably benign
R8840:Sacs	UTSW	14	61,429,177 (GRCm39)	missense	probably benign	0.25
R8924:Sacs	UTSW	14	61,448,702 (GRCm39)	missense	probably damaging	1.00
R8924:Sacs	UTSW	14	61,429,895 (GRCm39)	missense	probably benign	0.22
R8941:Sacs	UTSW	14	61,430,022 (GRCm39)	missense	probably benign	0.00
R9007:Sacs	UTSW	14	61,445,185 (GRCm39)	missense	probably benign	0.04
R9008:Sacs	UTSW	14	61,441,992 (GRCm39)	missense	probably benign	0.19
R9070:Sacs	UTSW	14	61,447,751 (GRCm39)	missense	probably benign
R9147:Sacs	UTSW	14	61,450,137 (GRCm39)	missense	possibly damaging	0.86
R9185:Sacs	UTSW	14	61,444,115 (GRCm39)	missense	probably damaging	0.98
R9290:Sacs	UTSW	14	61,421,499 (GRCm39)	missense	probably benign	0.17
R9294:Sacs	UTSW	14	61,477,768 (GRCm39)	missense	possibly damaging	0.84
R9339:Sacs	UTSW	14	61,443,309 (GRCm39)	missense	probably benign	0.00
R9341:Sacs	UTSW	14	61,446,219 (GRCm39)	missense	probably benign	0.08
R9343:Sacs	UTSW	14	61,446,219 (GRCm39)	missense	probably benign	0.08
R9370:Sacs	UTSW	14	61,441,080 (GRCm39)	missense	probably damaging	1.00
R9433:Sacs	UTSW	14	61,443,997 (GRCm39)	missense	probably damaging	1.00
R9460:Sacs	UTSW	14	61,441,611 (GRCm39)	missense	probably benign	0.34
R9548:Sacs	UTSW	14	61,440,692 (GRCm39)	missense	probably benign	0.02
R9564:Sacs	UTSW	14	61,449,046 (GRCm39)	missense	probably damaging	1.00
R9644:Sacs	UTSW	14	61,443,428 (GRCm39)	missense	probably benign	0.00
R9683:Sacs	UTSW	14	61,450,881 (GRCm39)	missense	possibly damaging	0.95
R9706:Sacs	UTSW	14	61,445,822 (GRCm39)	nonsense	probably null
X0067:Sacs	UTSW	14	61,445,468 (GRCm39)	missense	probably damaging	1.00
Z1176:Sacs	UTSW	14	61,450,649 (GRCm39)	missense	probably damaging	1.00
Z1176:Sacs	UTSW	14	61,448,279 (GRCm39)	nonsense	probably null
Z1177:Sacs	UTSW	14	61,445,430 (GRCm39)	missense	possibly damaging	0.93
Z1177:Sacs	UTSW	14	61,429,000 (GRCm39)	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- TACAAATGGCAGCTTCCCAGGGAC -3'
(R):5'- AGTTTACTACTAATGCCCCGCCCG -3'

Sequencing Primer
(F):5'- AGCTTCCCAGGGACATTTTTC -3'
(R):5'- TGTTACATACCAACCACGACG -3'

Posted On

2013-05-23