Mutagenetix > Incidental Mutation

Incidental Mutation 'R3722:Ica1'

475954

Institutional Source

Beutler Lab

Gene Symbol

Ica1

Ensembl Gene

ENSMUSG00000062995

Gene Name

islet cell autoantigen 1

Synonyms

ICA69, 69kDa

MMRRC Submission

040713-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R3722 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8630527-8778488 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 8659021 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138459 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038403] [ENSMUST00000115518] [ENSMUST00000115519] [ENSMUST00000115520] [ENSMUST00000126430] [ENSMUST00000153390] [ENSMUST00000156695]

AlphaFold

P97411

Predicted Effect

probably benign
Transcript: ENSMUST00000038403

SMART Domains

Protein: ENSMUSP00000040062
Gene: ENSMUSG00000062995

Domain	Start	End	E-Value	Type
Arfaptin	21	248	1.54e-125	SMART
ICA69	260	478	1.25e-93	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115518

SMART Domains

Protein: ENSMUSP00000111180
Gene: ENSMUSG00000062995

Domain	Start	End	E-Value	Type
Arfaptin	21	248	1.54e-125	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115519

SMART Domains

Protein: ENSMUSP00000111181
Gene: ENSMUSG00000062995

Domain	Start	End	E-Value	Type
Arfaptin	21	248	1.54e-125	SMART
ICA69	260	465	4.01e-83	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115520

SMART Domains

Protein: ENSMUSP00000111182
Gene: ENSMUSG00000062995

Domain	Start	End	E-Value	Type
Arfaptin	21	248	1.54e-125	SMART
ICA69	260	478	1.25e-93	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126430

SMART Domains

Protein: ENSMUSP00000116861
Gene: ENSMUSG00000062995

Domain	Start	End	E-Value	Type
Arfaptin	1	83	3.3e-6	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000127398
AA Change: V65A

SMART Domains

Protein: ENSMUSP00000118194
Gene: ENSMUSG00000062995
AA Change: V65A

Domain	Start	End	E-Value	Type
Blast:Arfaptin	7	40	2e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000153390

SMART Domains

Protein: ENSMUSP00000117734
Gene: ENSMUSG00000062995

Domain	Start	End	E-Value	Type
Arfaptin	21	248	1.54e-125	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156695

SMART Domains

Protein: ENSMUSP00000138459
Gene: ENSMUSG00000062995

Domain	Start	End	E-Value	Type
Arfaptin	21	248	1.54e-125	SMART
Pfam:ICA69	260	301	4.1e-12	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with an arfaptin homology domain that is found both in the cytosol and as membrane-bound form on the Golgi complex and immature secretory granules. This protein is believed to be an autoantigen in insulin-dependent diabetes mellitus and primary Sjogren's syndrome. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]
PHENOTYPE: Homozygous mutation of this gene results in diabetes and spontaneous lethality at 4-5 months of age on a NOD background, however mice on a 129/Sv background are normal. Onset of diabetes starts 4 weeks later than wild-type NOD mice and mutants are resistant to cyclophospamide-accelerated diabetes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	T	10: 10,216,254 (GRCm39)	S1485T	probably benign	Het
Akap9	A	G	5: 4,120,351 (GRCm39)	Y3589C	probably damaging	Het
Alkbh8	T	C	9: 3,385,153 (GRCm39)	Y482H	probably damaging	Het
Appl1	G	A	14: 26,649,801 (GRCm39)	T575M	probably damaging	Het
Arhgap21	T	C	2: 20,855,102 (GRCm39)	E1420G	probably damaging	Het
Asic3	A	T	5: 24,621,997 (GRCm39)	Y419F	probably benign	Het
Atg7	A	G	6: 114,672,624 (GRCm39)	Y279C	probably damaging	Het
Braf	G	A	6: 39,600,610 (GRCm39)	P616L	probably damaging	Het
Btnl2	T	C	17: 34,577,109 (GRCm39)	M88T	possibly damaging	Het
C1rb	T	A	6: 124,557,620 (GRCm39)	Y586N	probably damaging	Het
Cacna1s	T	C	1: 135,996,780 (GRCm39)	F127S	possibly damaging	Het
Cd47	A	G	16: 49,688,205 (GRCm39)	I42V	probably benign	Het
Cox8b	T	A	7: 140,478,918 (GRCm39)	K66*	probably null	Het
Diras2	T	A	13: 52,662,059 (GRCm39)	I83F	probably damaging	Het
Dlg2	T	A	7: 91,361,008 (GRCm39)		probably null	Het
Dnah8	G	A	17: 31,073,872 (GRCm39)	R4514H	probably damaging	Het
Dnai1	G	A	4: 41,602,615 (GRCm39)	R113H	probably damaging	Het
Dolpp1	T	C	2: 30,287,500 (GRCm39)	L204P	probably damaging	Het
Fam170a	C	T	18: 50,415,271 (GRCm39)	P306S	probably benign	Het
Fbxl12	A	T	9: 20,550,268 (GRCm39)		probably null	Het
Fndc3a	T	A	14: 72,777,648 (GRCm39)	I1186F	probably benign	Het
Gm12886	T	A	4: 121,274,667 (GRCm39)	D71V	probably damaging	Het
H3c8	T	C	13: 23,719,722 (GRCm39)	V36A	possibly damaging	Het
Ighv8-11	A	G	12: 115,530,771 (GRCm39)	I119T	possibly damaging	Het
Ism1	A	T	2: 139,573,931 (GRCm39)	R94*	probably null	Het
Kbtbd11	T	A	8: 15,079,118 (GRCm39)	C572*	probably null	Het
Kcnk15	T	C	2: 163,700,214 (GRCm39)	L132P	probably damaging	Het
Lrmda	T	A	14: 22,077,399 (GRCm39)		probably benign	Het
Mei1	A	G	15: 81,987,405 (GRCm39)	H399R	possibly damaging	Het
Mrtfb	C	T	16: 13,203,557 (GRCm39)	A201V	probably damaging	Het
Ncstn	G	A	1: 171,895,462 (GRCm39)	T562M	possibly damaging	Het
Nudt4	A	T	10: 95,385,367 (GRCm39)		probably null	Het
Omp	T	C	7: 97,794,420 (GRCm39)	N69S	probably benign	Het
Or10d3	A	C	9: 39,461,418 (GRCm39)	C250G	probably damaging	Het
Or4a75	A	T	2: 89,448,503 (GRCm39)	I11N	possibly damaging	Het
Pak1	C	T	7: 97,503,704 (GRCm39)	P13L	probably damaging	Het
Pde4d	T	A	13: 110,087,866 (GRCm39)	C744*	probably null	Het
Pelp1	T	C	11: 70,289,026 (GRCm39)	Y240C	possibly damaging	Het
Pou2f1	G	C	1: 165,722,538 (GRCm39)	P349R	probably damaging	Het
Ptprk	A	G	10: 28,259,619 (GRCm39)	D353G	probably damaging	Het
Ptprs	A	G	17: 56,724,485 (GRCm39)	F1152S	probably damaging	Het
Rnf135	G	T	11: 80,087,743 (GRCm39)	A231S	probably benign	Het
Rpn1	G	A	6: 88,067,282 (GRCm39)		probably null	Het
Rreb1	T	A	13: 38,131,074 (GRCm39)	D1409E	probably benign	Het
Sipa1l2	G	A	8: 126,200,323 (GRCm39)	H668Y	probably damaging	Het
Slc35a5	A	T	16: 44,967,685 (GRCm39)	I138N	probably damaging	Het
Slc35d1	T	C	4: 103,065,321 (GRCm39)	K187E	possibly damaging	Het
Slc44a2	A	T	9: 21,254,273 (GRCm39)	I212F	possibly damaging	Het
Slc7a1	G	A	5: 148,272,343 (GRCm39)	R445*	probably null	Het
Snapc4	A	G	2: 26,255,440 (GRCm39)	L1028P	probably benign	Het
Snrnp40	C	T	4: 130,262,068 (GRCm39)	T152I	possibly damaging	Het
Spata31f1a	T	C	4: 42,851,472 (GRCm39)	E228G	probably benign	Het
Spink4	T	A	4: 40,929,136 (GRCm39)	C54S	probably damaging	Het
Tex2	C	T	11: 106,437,566 (GRCm39)	W203*	probably null	Het
Tmcc1	T	C	6: 116,110,783 (GRCm39)	E170G	possibly damaging	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Ttll6	A	G	11: 96,024,747 (GRCm39)	N46D	probably benign	Het
Txk	T	A	5: 72,865,078 (GRCm39)	K266*	probably null	Het
Uggt2	T	C	14: 119,278,930 (GRCm39)	E859G	probably damaging	Het
Uros	A	T	7: 133,304,120 (GRCm39)	M1K	probably null	Het
Vps13b	T	A	15: 35,671,528 (GRCm39)	I1677N	probably damaging	Het
Zbtb5	A	G	4: 44,994,863 (GRCm39)		probably null	Het
Zfp760	A	G	17: 21,941,143 (GRCm39)	Y106C	probably damaging	Het

Other mutations in Ica1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00895:Ica1	APN	6	8,653,514 (GRCm39)	missense	probably benign
IGL02248:Ica1	APN	6	8,758,387 (GRCm39)	utr 5 prime	probably benign
IGL02547:Ica1	APN	6	8,670,691 (GRCm39)	splice site	probably null
round_heels	UTSW	6	8,630,799 (GRCm39)	critical splice acceptor site	probably null
R0099:Ica1	UTSW	6	8,749,778 (GRCm39)	splice site	probably benign
R0244:Ica1	UTSW	6	8,653,632 (GRCm39)	nonsense	probably null
R0479:Ica1	UTSW	6	8,754,683 (GRCm39)	missense	probably damaging	1.00
R0479:Ica1	UTSW	6	8,754,627 (GRCm39)	missense	probably damaging	1.00
R0628:Ica1	UTSW	6	8,644,256 (GRCm39)	splice site	probably benign
R0826:Ica1	UTSW	6	8,667,375 (GRCm39)	intron	probably benign
R1186:Ica1	UTSW	6	8,672,326 (GRCm39)	missense	probably damaging	1.00
R1384:Ica1	UTSW	6	8,742,262 (GRCm39)	nonsense	probably null
R1957:Ica1	UTSW	6	8,749,736 (GRCm39)	missense	possibly damaging	0.85
R2431:Ica1	UTSW	6	8,658,265 (GRCm39)	missense	probably benign
R4224:Ica1	UTSW	6	8,659,960 (GRCm39)	missense	probably benign	0.11
R4777:Ica1	UTSW	6	8,644,145 (GRCm39)	missense	probably benign
R5633:Ica1	UTSW	6	8,667,257 (GRCm39)	missense	possibly damaging	0.73
R5786:Ica1	UTSW	6	8,672,391 (GRCm39)	missense	possibly damaging	0.50
R6033:Ica1	UTSW	6	8,630,799 (GRCm39)	critical splice acceptor site	probably null
R6033:Ica1	UTSW	6	8,630,799 (GRCm39)	critical splice acceptor site	probably null
R6053:Ica1	UTSW	6	8,630,783 (GRCm39)	missense	probably benign	0.01
R6221:Ica1	UTSW	6	8,644,181 (GRCm39)	missense	possibly damaging	0.82
R6794:Ica1	UTSW	6	8,653,659 (GRCm39)	missense	probably benign	0.00
R6819:Ica1	UTSW	6	8,742,288 (GRCm39)	missense	probably damaging	0.99
R7201:Ica1	UTSW	6	8,644,015 (GRCm39)	missense	probably damaging	1.00
R7574:Ica1	UTSW	6	8,658,266 (GRCm39)	missense	probably benign	0.00
R7841:Ica1	UTSW	6	8,737,072 (GRCm39)	missense	probably damaging	1.00
R7920:Ica1	UTSW	6	8,742,274 (GRCm39)	missense	probably benign	0.03
R8017:Ica1	UTSW	6	8,658,286 (GRCm39)	missense	probably benign
R8511:Ica1	UTSW	6	8,754,726 (GRCm39)	missense	probably benign	0.00
R9067:Ica1	UTSW	6	8,667,362 (GRCm39)	missense	probably benign
R9133:Ica1	UTSW	6	8,659,921 (GRCm39)	missense	probably benign	0.01
R9454:Ica1	UTSW	6	8,667,288 (GRCm39)	missense	probably benign

Predicted Primers

Posted On

2017-05-11