Mutagenetix > Incidental Mutation

Incidental Mutation 'R0673:Sacs'

61536

Institutional Source

Beutler Lab

Gene Symbol

Sacs

Ensembl Gene

ENSMUSG00000048279

Gene Name

sacsin

Synonyms

E130115J16Rik

MMRRC Submission

038858-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0673 (G1)

Quality Score

191

Status

Not validated

Chromosome

Chromosomal Location

61375906-61478144 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61447664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 3237 (K3237E)

Ref Sequence

ENSEMBL: ENSMUSP00000113377 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089394] [ENSMUST00000119943]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000089394

SMART Domains

Protein: ENSMUSP00000086816
Gene: ENSMUSG00000048279

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

possibly damaging
Transcript: ENSMUST00000119943
AA Change: K3237E

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113377
Gene: ENSMUSG00000048279
AA Change: K3237E

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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.4%
20x: 95.2%

Validation Efficiency

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600014C23Rik	C	T	17: 46,043,999 (GRCm39)	W86*	probably null	Het
2700049A03Rik	C	T	12: 71,224,642 (GRCm39)	P894S	probably damaging	Het
Adgrg7	A	T	16: 56,593,849 (GRCm39)	N122K	possibly damaging	Het
Ankrd13d	A	T	19: 4,323,047 (GRCm39)		probably null	Het
Blm	A	T	7: 80,149,499 (GRCm39)		probably null	Het
Caml	C	T	13: 55,779,641 (GRCm39)	T238M	probably damaging	Het
Casd1	T	A	6: 4,624,440 (GRCm39)	V411D	possibly damaging	Het
Cdc25b	A	G	2: 131,039,182 (GRCm39)	N516D	probably benign	Het
Cmya5	A	G	13: 93,226,505 (GRCm39)	I2861T	probably damaging	Het
Csmd3	A	G	15: 47,777,336 (GRCm39)	L1294P	probably damaging	Het
Cxxc1	A	G	18: 74,351,984 (GRCm39)	D287G	possibly damaging	Het
Dgkq	T	C	5: 108,803,455 (GRCm39)	H217R	probably damaging	Het
Disp2	A	T	2: 118,621,325 (GRCm39)	I686F	possibly damaging	Het
Dnah6	T	A	6: 73,100,794 (GRCm39)	N2003I	probably benign	Het
Dsc3	T	A	18: 20,122,647 (GRCm39)	R92S	probably damaging	Het
Ei24	T	G	9: 36,699,551 (GRCm39)		probably null	Het
Fgl1	G	T	8: 41,644,661 (GRCm39)	T281K	probably benign	Het
Gbp3	A	G	3: 142,271,015 (GRCm39)	T140A	probably benign	Het
Gtpbp3	A	T	8: 71,945,379 (GRCm39)	I485F	probably damaging	Het
Harbi1	C	T	2: 91,542,880 (GRCm39)	R114W	probably damaging	Het
Inmt	A	C	6: 55,148,212 (GRCm39)	V139G	probably damaging	Het
Inpp5j	T	A	11: 3,451,147 (GRCm39)	M501L	probably benign	Het
Jmjd1c	A	G	10: 67,062,588 (GRCm39)	N1647S	probably damaging	Het
Lgals9	A	G	11: 78,856,679 (GRCm39)	F252L	probably damaging	Het
Lingo3	C	A	10: 80,671,618 (GRCm39)	R104L	probably benign	Het
Lrrc8c	G	A	5: 105,755,544 (GRCm39)	V440M	probably damaging	Het
Mybpc3	G	A	2: 90,950,772 (GRCm39)	G36D	probably damaging	Het
Ncapd3	T	A	9: 26,998,773 (GRCm39)	N1254K	probably benign	Het
Neb	A	G	2: 52,146,136 (GRCm39)	V2947A	possibly damaging	Het
Nudt12	A	T	17: 59,314,617 (GRCm39)		probably null	Het
Or2l5	A	G	16: 19,334,146 (GRCm39)	M80T	probably damaging	Het
Or4c3d	A	C	2: 89,882,596 (GRCm39)	M24R	probably benign	Het
Otop1	T	C	5: 38,445,292 (GRCm39)	V150A	possibly damaging	Het
Prr14l	C	T	5: 32,986,259 (GRCm39)	D1079N	probably benign	Het
Rasal1	A	G	5: 120,808,449 (GRCm39)	T494A	probably benign	Het
Sh3d19	T	C	3: 86,014,280 (GRCm39)	S415P	probably benign	Het
Sypl1	A	T	12: 33,015,420 (GRCm39)	T40S	probably damaging	Het
Tg	A	T	15: 66,613,333 (GRCm39)		probably null	Het
Tmed8	A	G	12: 87,220,878 (GRCm39)	V236A	probably damaging	Het
Vmn1r33	T	C	6: 66,588,783 (GRCm39)	Y257C	probably damaging	Het
Yme1l1	T	C	2: 23,058,300 (GRCm39)	F144S	probably benign	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
R0479:Sacs	UTSW	14	61,428,928 (GRCm39)	missense	probably damaging	0.99
R0556:Sacs	UTSW	14	61,421,407 (GRCm39)	missense	probably damaging	0.99
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'- ACTGCCCCTACTCATTACACTGGAC -3'
(R):5'- CATGAGGCTCAGGGGAATCAACAC -3'

Sequencing Primer
(F):5'- GATGGTAAACGACCCAAGTTTC -3'
(R):5'- GGGAATCAACACGTCTCCCTC -3'

Posted On

2013-07-30