Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01839:Sacs'

155064

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sacs

Ensembl Gene

ENSMUSG00000048279

Gene Name

sacsin

Synonyms

E130115J16Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01839

Quality Score

Status

Chromosome

Chromosomal Location

61375906-61478144 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 61421394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154300 (fasta)

Gene Model

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

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: ENSMUST00000119509

SMART Domains

Protein: ENSMUSP00000113007
Gene: ENSMUSG00000048279

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 benign
Transcript: ENSMUST00000119943

SMART Domains

Protein: ENSMUSP00000113377
Gene: ENSMUSG00000048279

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 benign
Transcript: ENSMUST00000121091

SMART Domains

Protein: ENSMUSP00000113925
Gene: ENSMUSG00000048279

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

Coding Region Coverage

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	T	A	12: 113,508,242 (GRCm39)	L205Q	probably benign	Het
Cadps	G	T	14: 12,467,184 (GRCm38)		probably benign	Het
Cfap69	G	A	5: 5,676,027 (GRCm39)	Q223*	probably null	Het
Col11a2	G	A	17: 34,283,056 (GRCm39)		probably benign	Het
Col3a1	T	C	1: 45,350,990 (GRCm39)	V28A	unknown	Het
Cyp17a1	A	G	19: 46,659,110 (GRCm39)	I177T	possibly damaging	Het
Exoc2	A	G	13: 31,090,782 (GRCm39)	L274P	probably damaging	Het
Fastkd3	A	G	13: 68,732,971 (GRCm39)	R431G	probably benign	Het
Fat3	T	C	9: 15,909,168 (GRCm39)	N2278S	probably damaging	Het
Ift172	G	T	5: 31,423,694 (GRCm39)	A756E	probably damaging	Het
Igf2r	T	C	17: 12,923,909 (GRCm39)	Y1087C	probably damaging	Het
Khdrbs2	T	C	1: 32,453,943 (GRCm39)		probably benign	Het
Kmt5a	A	G	5: 124,589,417 (GRCm39)	K205R	probably benign	Het
Lrrc45	A	T	11: 120,607,975 (GRCm39)		probably null	Het
Ltbp2	T	C	12: 84,840,432 (GRCm39)	S1045G	possibly damaging	Het
Nfib	T	C	4: 82,228,607 (GRCm39)	M505V	probably benign	Het
Oit3	C	T	10: 59,265,318 (GRCm39)	V316I	probably damaging	Het
Or1e1f	T	A	11: 73,855,437 (GRCm39)	M1K	probably null	Het
Or5b119	T	C	19: 13,456,804 (GRCm39)	T253A	probably benign	Het
Pcdhb5	A	T	18: 37,454,502 (GRCm39)	N294I	probably damaging	Het
Pld4	A	T	12: 112,731,513 (GRCm39)	H222L	probably damaging	Het
Sgms2	T	C	3: 131,135,751 (GRCm39)	K41R	possibly damaging	Het
Slc22a4	A	T	11: 53,886,903 (GRCm39)	S280T	probably damaging	Het
Slc34a1	T	C	13: 23,996,668 (GRCm39)	S58P	possibly damaging	Het
Slc7a15	C	T	12: 8,589,365 (GRCm39)	G61S	probably damaging	Het
Trrap	A	G	5: 144,758,685 (GRCm39)	K2190E	probably damaging	Het
Ttn	C	A	2: 76,644,702 (GRCm39)	Q13017H	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
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
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

Posted On

2014-02-04