Mutagenetix > Incidental Mutation

Incidental Mutation 'R0826:Ica1'

78221

Institutional Source

Beutler Lab

Gene Symbol

Ica1

Ensembl Gene

ENSMUSG00000062995

Gene Name

islet cell autoantigen 1

Synonyms

ICA69, 69kDa

MMRRC Submission

039006-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

R0826 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8630527-8778488 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 8667375 bp (GRCm38)

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

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: 99.5%
3x: 98.6%
10x: 95.7%
20x: 86.3%

Validation Efficiency

100% (69/69)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	T	7: 40,993,056	T141S	probably benign	Het
4930563D23Rik	G	A	16: 92,321,187	S71L	probably benign	Het
4931406C07Rik	T	C	9: 15,291,996		probably null	Het
Adamts16	T	A	13: 70,768,692	D727V	possibly damaging	Het
Anxa10	A	C	8: 62,076,284	L133*	probably null	Het
Arfgef3	G	A	10: 18,589,666	T2143I	probably damaging	Het
Arhgef17	T	C	7: 100,930,743	T333A	probably benign	Het
Arhgef40	A	G	14: 52,000,993	T1310A	probably benign	Het
Atg10	C	T	13: 90,936,586		probably null	Het
Atp1a1	A	G	3: 101,584,853	F569S	probably damaging	Het
Baiap3	A	G	17: 25,245,229	W849R	possibly damaging	Het
Baz1a	A	T	12: 54,930,312	Y9*	probably null	Het
Catsperg2	C	T	7: 29,705,624	D702N	possibly damaging	Het
Clasrp	G	T	7: 19,584,301		probably benign	Het
Col11a1	G	A	3: 114,138,765	R113H	unknown	Het
Col19a1	T	C	1: 24,526,386	K288R	unknown	Het
Ctnnbl1	C	T	2: 157,799,417		probably benign	Het
Cttnbp2	A	G	6: 18,405,178		probably benign	Het
Dnah1	T	A	14: 31,303,907	I828F	probably benign	Het
Dpf2	G	T	19: 5,907,127	Q23K	probably damaging	Het
Dsc3	T	A	18: 19,981,172	I342F	probably damaging	Het
Enpp3	A	G	10: 24,795,716	L460P	probably damaging	Het
Epb41l2	A	G	10: 25,504,192	E871G	probably damaging	Het
Exoc2	T	C	13: 30,856,797		probably null	Het
Fpr-rs7	A	T	17: 20,113,626	S201T	probably benign	Het
Gtf2ird2	T	C	5: 134,216,955	F685S	probably damaging	Het
Helz2	C	T	2: 181,240,853	R49H	possibly damaging	Het
Iqca	C	A	1: 90,142,731	G133V	probably null	Het
Kif21a	A	G	15: 90,997,541		probably null	Het
Lamb3	T	A	1: 193,330,908	C480*	probably null	Het
Lamc2	A	G	1: 153,152,082	S199P	probably damaging	Het
Lrfn3	T	C	7: 30,360,251	N183S	probably benign	Het
Lsm14a	C	A	7: 34,371,045		probably benign	Het
Mest	C	A	6: 30,742,814	H146Q	probably damaging	Het
Mmp27	T	C	9: 7,579,009	V339A	probably damaging	Het
Myo16	T	C	8: 10,376,285		probably benign	Het
Myoz1	C	T	14: 20,653,611		probably benign	Het
Nlrp5	A	G	7: 23,417,708	M286V	probably benign	Het
Olfr1250	A	C	2: 89,656,837	N201K	possibly damaging	Het
Olfr1386	A	T	11: 49,470,331	Y60F	probably damaging	Het
Olfr1537	C	T	9: 39,238,429	M1I	probably null	Het
Olfr273	C	T	4: 52,855,566	V316I	probably benign	Het
Optc	T	C	1: 133,905,155	K69R	probably benign	Het
Osbpl3	A	T	6: 50,346,377	M242K	probably damaging	Het
Pdzd9	T	A	7: 120,668,401	S64C	probably damaging	Het
Pik3cg	A	G	12: 32,195,673	S859P	possibly damaging	Het
Ppp1r12a	G	T	10: 108,230,553	A202S	possibly damaging	Het
Rab32	A	T	10: 10,550,867	F112I	possibly damaging	Het
Ror2	T	C	13: 53,113,217	Y394C	probably damaging	Het
Rtn3	A	G	19: 7,467,880		probably benign	Het
Sbk1	C	T	7: 126,291,835	P147L	probably damaging	Het
Shpk	T	A	11: 73,204,031	M91K	probably damaging	Het
Slco6c1	C	T	1: 97,128,101	S25N	probably benign	Het
Snx2	A	T	18: 53,194,522	T107S	probably benign	Het
Tle2	G	A	10: 81,586,314	V397I	possibly damaging	Het
Tmem131l	T	C	3: 83,898,417	D1573G	probably damaging	Het
Tnfrsf8	A	G	4: 145,285,138		probably benign	Het
Tpmt	T	C	13: 47,041,489	E36G	probably benign	Het
Trim30c	T	A	7: 104,383,481	T257S	probably benign	Het
Tsc2	A	G	17: 24,596,958	L150P	probably benign	Het
Ttc26	A	G	6: 38,425,114		probably null	Het
Upf3a	G	C	8: 13,798,338	G378A	possibly damaging	Het
Yeats2	A	T	16: 20,193,216	K514*	probably null	Het
Zfp11	A	G	5: 129,657,525	Y291H	probably benign	Het
Zfp457	T	C	13: 67,293,314	D399G	possibly damaging	Het

Other mutations in Ica1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00895:Ica1	APN	6	8653514	missense	probably benign
IGL02248:Ica1	APN	6	8758387	utr 5 prime	probably benign
IGL02547:Ica1	APN	6	8670691	splice site	probably null
round_heels	UTSW	6	8630799	critical splice acceptor site	probably null
R0099:Ica1	UTSW	6	8749778	splice site	probably benign
R0244:Ica1	UTSW	6	8653632	nonsense	probably null
R0479:Ica1	UTSW	6	8754627	missense	probably damaging	1.00
R0479:Ica1	UTSW	6	8754683	missense	probably damaging	1.00
R0628:Ica1	UTSW	6	8644256	splice site	probably benign
R1186:Ica1	UTSW	6	8672326	missense	probably damaging	1.00
R1384:Ica1	UTSW	6	8742262	nonsense	probably null
R1957:Ica1	UTSW	6	8749736	missense	possibly damaging	0.85
R2431:Ica1	UTSW	6	8658265	missense	probably benign
R3722:Ica1	UTSW	6	8659021	intron	probably benign
R4224:Ica1	UTSW	6	8659960	missense	probably benign	0.11
R4777:Ica1	UTSW	6	8644145	missense	probably benign
R5633:Ica1	UTSW	6	8667257	missense	possibly damaging	0.73
R5786:Ica1	UTSW	6	8672391	missense	possibly damaging	0.50
R6033:Ica1	UTSW	6	8630799	critical splice acceptor site	probably null
R6033:Ica1	UTSW	6	8630799	critical splice acceptor site	probably null
R6053:Ica1	UTSW	6	8630783	missense	probably benign	0.01
R6221:Ica1	UTSW	6	8644181	missense	possibly damaging	0.82
R6794:Ica1	UTSW	6	8653659	missense	probably benign	0.00
R6819:Ica1	UTSW	6	8742288	missense	probably damaging	0.99
R7201:Ica1	UTSW	6	8644015	missense	probably damaging	1.00
R7574:Ica1	UTSW	6	8658266	missense	probably benign	0.00
R7841:Ica1	UTSW	6	8737072	missense	probably damaging	1.00
R7920:Ica1	UTSW	6	8742274	missense	probably benign	0.03
R8017:Ica1	UTSW	6	8658286	missense	probably benign
R8511:Ica1	UTSW	6	8754726	missense	probably benign	0.00
R9067:Ica1	UTSW	6	8667362	missense	probably benign
R9133:Ica1	UTSW	6	8659921	missense	probably benign	0.01
R9454:Ica1	UTSW	6	8667288	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCCTCAACCAGTCTTCAGAAGTC -3'
(R):5'- CGTCCCTCACATGGCAGGAATTATC -3'

Sequencing Primer
(F):5'- ACCAGTCTTCAGAAGTCCATGTTG -3'
(R):5'- CATGGCAGGAATTATCACCTTCG -3'

Posted On

2013-10-16