Mutagenetix > Incidental Mutation

Incidental Mutation 'R9454:Ica1'

714459

Institutional Source

Beutler Lab

Gene Symbol

Ica1

Ensembl Gene

ENSMUSG00000062995

Gene Name

islet cell autoantigen 1

Synonyms

ICA69, 69kDa

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

R9454 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8630527-8778488 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8667288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 293 (S293T)

Ref Sequence

ENSEMBL: ENSMUSP00000111180 (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
AA Change: S293T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111180
Gene: ENSMUSG00000062995
AA Change: S293T

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

probably benign
Transcript: ENSMUST00000127398

SMART Domains

Protein: ENSMUSP00000118194
Gene: ENSMUSG00000062995

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim3	G	T	18: 61,952,067 (GRCm39)	H431Q	possibly damaging	Het
Adam25	A	T	8: 41,207,486 (GRCm39)	I251F	probably damaging	Het
Ankrd31	A	T	13: 96,916,842 (GRCm39)	T119S	probably damaging	Het
Ankrd31	T	C	13: 96,916,846 (GRCm39)	V120A	possibly damaging	Het
Anks6	T	C	4: 47,016,789 (GRCm39)	E809G	possibly damaging	Het
Arhgap21	A	T	2: 20,870,153 (GRCm39)	S928T	probably damaging	Het
Arhgef10l	G	T	4: 140,308,236 (GRCm39)	S39*	probably null	Het
Aspm	G	A	1: 139,408,732 (GRCm39)	E2540K	probably benign	Het
Atp10a	T	C	7: 58,308,339 (GRCm39)	I46T	probably benign	Het
Atp13a5	C	A	16: 29,133,338 (GRCm39)	V483L	possibly damaging	Het
BC028528	T	C	3: 95,797,082 (GRCm39)	D29G	possibly damaging	Het
Ccdc187	T	A	2: 26,166,114 (GRCm39)	T772S	possibly damaging	Het
Ccnh	G	A	13: 85,350,521 (GRCm39)	A199T	probably benign	Het
Cfap65	A	T	1: 74,944,210 (GRCm39)	Y1504N	probably damaging	Het
Ckap2	C	A	8: 22,665,899 (GRCm39)	E383*	probably null	Het
Clec4n	T	C	6: 123,212,532 (GRCm39)	V116A	possibly damaging	Het
Cmc2	G	T	8: 117,616,550 (GRCm39)	D58E	unknown	Het
Cntn6	A	G	6: 104,781,308 (GRCm39)	K465E	possibly damaging	Het
Col6a6	G	A	9: 105,661,059 (GRCm39)	A350V	probably damaging	Het
Cps1	A	G	1: 67,219,311 (GRCm39)	I884V	probably damaging	Het
E2f7	C	T	10: 110,620,542 (GRCm39)	A853V	probably benign	Het
E330034G19Rik	A	T	14: 24,346,860 (GRCm39)	Q114L	unknown	Het
Egfr	G	T	11: 16,837,155 (GRCm39)	G632V	probably damaging	Het
Fam98b	T	C	2: 117,080,250 (GRCm39)	M1T	probably null	Het
Fcgr2b	T	A	1: 170,788,657 (GRCm39)	I317F	probably damaging	Het
Galntl6	T	C	8: 58,411,435 (GRCm39)	D265G	probably damaging	Het
Gm4922	A	G	10: 18,660,329 (GRCm39)	L131P	probably damaging	Het
H1f7	T	C	15: 98,154,823 (GRCm39)	I109V	probably benign	Het
H2-Q1	A	T	17: 35,540,349 (GRCm39)	I145F	probably damaging	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,934,702 (GRCm39)		probably benign	Het
Ift70a2	T	A	2: 75,806,812 (GRCm39)	I567F	probably benign	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Magi2	G	T	5: 20,671,176 (GRCm39)	V507F	probably damaging	Het
Malrd1	T	C	2: 15,757,660 (GRCm39)	I978T	unknown	Het
Malrd1	G	A	2: 15,802,537 (GRCm39)	W1083*	probably null	Het
Mgarp	T	C	3: 51,303,902 (GRCm39)	T10A	probably damaging	Het
Mtnr1a	A	G	8: 45,538,612 (GRCm39)	I17V		Het
Muc5ac	C	T	7: 141,362,431 (GRCm39)	T1914I	unknown	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 67,313,200 (GRCm39)		probably benign	Het
Nav3	T	C	10: 109,835,864 (GRCm39)	T73A	probably benign	Het
Or4b1	A	C	2: 89,979,820 (GRCm39)	C177G	probably damaging	Het
Or8k21	A	T	2: 86,145,178 (GRCm39)	Y151N	probably damaging	Het
Pclo	T	A	5: 14,762,452 (GRCm39)	S357T	probably benign	Het
Pkdrej	T	A	15: 85,702,420 (GRCm39)	N1172I	probably benign	Het
Psmb9	G	A	17: 34,402,078 (GRCm39)	R173C	probably benign	Het
Ralgapb	T	A	2: 158,315,072 (GRCm39)	H1146Q	probably benign	Het
Raph1	T	A	1: 60,528,753 (GRCm39)	Q836L	unknown	Het
Rcc1	A	G	4: 132,062,074 (GRCm39)	S280P	probably damaging	Het
Recql	T	C	6: 142,320,617 (GRCm39)	M144V	possibly damaging	Het
Rela	T	C	19: 5,695,368 (GRCm39)	I298T	probably damaging	Het
Rfc1	T	A	5: 65,431,774 (GRCm39)	I792F		Het
Rnf31	A	G	14: 55,833,609 (GRCm39)	E539G		Het
Rrp9	T	C	9: 106,360,840 (GRCm39)	S274P	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,130 (GRCm39)		probably benign	Het
Scmh1	A	G	4: 120,372,276 (GRCm39)	I360V	probably benign	Het
Sh3yl1	T	C	12: 30,990,420 (GRCm39)		probably null	Het
Shisa9	T	C	16: 11,802,523 (GRCm39)	S27P	probably benign	Het
Slc17a4	A	G	13: 24,085,910 (GRCm39)	V359A	probably benign	Het
Slfn5	C	A	11: 82,850,885 (GRCm39)	A394E	probably benign	Het
Sun3	A	G	11: 8,988,281 (GRCm39)	F14L	probably benign	Het
Surf1	A	T	2: 26,804,808 (GRCm39)	D148E	possibly damaging	Het
Syne2	A	T	12: 76,141,844 (GRCm39)	K1388*	probably null	Het
Syne2	A	G	12: 76,067,275 (GRCm39)	K4325E	probably damaging	Het
Tacr1	A	G	6: 82,531,853 (GRCm39)	M250V	probably damaging	Het
Tenm2	T	C	11: 36,112,286 (GRCm39)	T420A	probably benign	Het
Tm7sf3	C	A	6: 146,520,041 (GRCm39)	A282S	probably benign	Het
Tmf1	T	C	6: 97,155,866 (GRCm39)	E40G	probably benign	Het
Tnfrsf12a	A	G	17: 23,895,491 (GRCm39)		probably null	Het
Unc80	C	A	1: 66,734,749 (GRCm39)	H3325Q	possibly damaging	Het
Vamp9	C	T	5: 100,070,952 (GRCm39)	P76S	probably damaging	Het
Zfp142	A	G	1: 74,609,016 (GRCm39)	L1593S	probably damaging	Het
Zfp869	T	A	8: 70,159,241 (GRCm39)	Y444F	probably benign	Het
Zscan10	G	A	17: 23,826,619 (GRCm39)		probably null	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
R3722:Ica1	UTSW	6	8,659,021 (GRCm39)	intron	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

Predicted Primers

PCR Primer
(F):5'- CCCTGTAATGCAAACACGAGG -3'
(R):5'- ATCTGGAAAGCGTTGTCCC -3'

Sequencing Primer
(F):5'- GAGAGGAGCATGCTGGCC -3'
(R):5'- CAATTTGGGCTCAGAGCTTAAAGC -3'

Posted On

2022-06-15