Mutagenetix > Incidental Mutation

Incidental Mutation 'R5983:Sacs'

481532

Institutional Source

Beutler Lab

Gene Symbol

Sacs

Ensembl Gene

ENSMUSG00000048279

Gene Name

sacsin

Synonyms

E130115J16Rik

MMRRC Submission

044164-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5983 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61375906-61478144 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 61442648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 1565 (V1565M)

Ref Sequence

ENSEMBL: ENSMUSP00000113377 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000119943
AA Change: V1565M

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113377
Gene: ENSMUSG00000048279
AA Change: V1565M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000229692

Meta Mutation Damage Score

0.2344

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

100% (29/29)

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	A	19: 43,807,942 (GRCm39)	M861K	probably benign	Het
Abhd18	T	A	3: 40,864,979 (GRCm39)	F73L	probably damaging	Het
Abraxas1	A	G	5: 100,955,777 (GRCm39)	V237A	probably benign	Het
Adam26b	T	C	8: 43,974,378 (GRCm39)	Y208C	probably damaging	Het
Aire	A	G	10: 77,878,903 (GRCm39)	L48P	probably damaging	Het
Bach2	A	T	4: 32,563,324 (GRCm39)	E597V	probably damaging	Het
Ccdc170	A	T	10: 4,470,851 (GRCm39)	R232*	probably null	Het
Cfap100	A	C	6: 90,396,373 (GRCm39)		probably benign	Het
Dppa2	G	A	16: 48,136,204 (GRCm39)	M185I	probably benign	Het
Ecsit	C	T	9: 21,989,443 (GRCm39)		probably null	Het
Fbxw26	A	G	9: 109,547,033 (GRCm39)	I464T	possibly damaging	Het
Grm8	T	C	6: 27,760,220 (GRCm39)	K370R	probably benign	Het
Ide	C	T	19: 37,249,549 (GRCm39)		probably null	Het
Katnip	T	A	7: 125,449,545 (GRCm39)	W870R	probably damaging	Het
Morn3	T	C	5: 123,175,851 (GRCm39)	D179G	possibly damaging	Het
Nkapd1	A	G	9: 50,519,142 (GRCm39)	S157P	probably damaging	Het
Nvl	A	T	1: 180,964,471 (GRCm39)	D102E	probably benign	Het
Or5an10	T	A	19: 12,276,467 (GRCm39)	I10F	probably benign	Het
Rbm5	G	A	9: 107,622,141 (GRCm39)	P611L	probably damaging	Het
Rsph9	A	G	17: 46,440,406 (GRCm39)	M230T	probably benign	Het
Serpina3n	T	C	12: 104,375,288 (GRCm39)	L120P	probably damaging	Het
Spsb2	A	C	6: 124,786,711 (GRCm39)	E148A	probably benign	Het
Tmc2	T	A	2: 130,089,896 (GRCm39)	M627K	probably damaging	Het
Tmem147	T	C	7: 30,427,484 (GRCm39)	D111G	probably damaging	Het
Ttn	A	G	2: 76,572,725 (GRCm39)	V17729A	possibly damaging	Het
Vmn2r104	G	A	17: 20,261,970 (GRCm39)	P387S	probably damaging	Het
Zfp940	C	T	7: 29,544,477 (GRCm39)	V477M	possibly damaging	Het
Zw10	A	G	9: 48,988,745 (GRCm39)		probably null	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
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
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'- TGATGATGCAAATGCCACAG -3'
(R):5'- TGAACTGGTTGGGGAACTTCC -3'

Sequencing Primer
(F):5'- CCACAGAATGCAGCTTCATGATTG -3'
(R):5'- AACTGGTTGGGGAACTTCCTAAGTC -3'

Posted On

2017-06-26