Mutagenetix > Incidental Mutation

Incidental Mutation 'R5692:Sacs'

443745

Institutional Source

Beutler Lab

Gene Symbol

Sacs

Ensembl Gene

ENSMUSG00000048279

Gene Name

sacsin

Synonyms

E130115J16Rik

MMRRC Submission

043179-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5692 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61375906-61478144 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61445288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 2445 (F2445L)

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

probably benign
Transcript: ENSMUST00000119943
AA Change: F2445L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113377
Gene: ENSMUSG00000048279
AA Change: F2445L

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

noncoding transcript
Transcript: ENSMUST00000150222

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700128F08Rik	G	A	9: 8,221,991 (GRCm39)		noncoding transcript	Het
Adcy10	A	G	1: 165,342,875 (GRCm39)	N247S	probably benign	Het
Ago3	T	C	4: 126,248,862 (GRCm39)		probably null	Het
Aldh16a1	A	G	7: 44,797,223 (GRCm39)	V168A	probably damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Arhgap26	T	A	18: 39,254,945 (GRCm39)	V274E	probably damaging	Het
Clec4d	T	C	6: 123,245,104 (GRCm39)		probably null	Het
Dennd4b	T	C	3: 90,185,090 (GRCm39)	Y1166H	probably damaging	Het
Egln3	T	C	12: 54,227,447 (GRCm39)		probably null	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fhad1	T	A	4: 141,690,768 (GRCm39)	M434L	probably benign	Het
Gfm1	T	G	3: 67,342,955 (GRCm39)	M163R	probably damaging	Het
Isg15	A	T	4: 156,284,279 (GRCm39)	L83Q	probably damaging	Het
Ly9	GCCTTTGGGGGACAATTCC	GCC	1: 171,432,755 (GRCm39)		probably null	Het
Med1	G	T	11: 98,047,206 (GRCm39)		probably benign	Het
Mrc2	T	A	11: 105,227,468 (GRCm39)	V567D	probably damaging	Het
Nnmt	G	T	9: 48,514,780 (GRCm39)	T79K	probably benign	Het
Opn1sw	G	A	6: 29,379,840 (GRCm39)		probably benign	Het
Optc	G	T	1: 133,828,714 (GRCm39)		probably benign	Het
Pcdh17	C	T	14: 84,685,980 (GRCm39)	P816S	probably benign	Het
Pcdhb15	T	C	18: 37,607,502 (GRCm39)	S245P	probably benign	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Sel1l	T	C	12: 91,778,652 (GRCm39)	N721S	probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc7a11	C	G	3: 50,326,780 (GRCm39)	V494L	probably benign	Het
Sulf2	C	A	2: 165,923,426 (GRCm39)	A598S	probably benign	Het
Tph2	A	T	10: 115,020,732 (GRCm39)	D21E	probably damaging	Het
Trf	T	C	9: 103,103,324 (GRCm39)	Y110C	possibly damaging	Het
Ttn	C	T	2: 76,628,202 (GRCm39)	E14653K	possibly damaging	Het
Vmn2r18	A	G	5: 151,485,724 (GRCm39)	I590T	possibly damaging	Het
Zfp607b	G	T	7: 27,402,889 (GRCm39)	K448N	probably benign	Het
Zfp689	T	C	7: 127,048,071 (GRCm39)		probably benign	Het
Zfp709	C	T	8: 72,643,999 (GRCm39)	P476L	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
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
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
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'- TGAACTTTGAAGCAGCACCATAC -3'
(R):5'- TTGCACCAAGTTTTACAGCTAC -3'

Sequencing Primer
(F):5'- TTGAAGCAGCACCATACCTTTATCAG -3'
(R):5'- AAGTTTTACAGCTACTTCCCGGGG -3'

Posted On

2016-11-09