Mutagenetix > Incidental Mutation

Incidental Mutation 'R4777:Ica1'

368010

Institutional Source

Beutler Lab

Gene Symbol

Ica1

Ensembl Gene

ENSMUSG00000062995

Gene Name

islet cell autoantigen 1

Synonyms

ICA69, 69kDa

MMRRC Submission

041992-MU

Accession Numbers

Essential gene?

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

Stock #

R4777 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

8630527-8778488 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8644145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 381 (D381E)

Ref Sequence

ENSEMBL: ENSMUSP00000111182 (fasta)

Gene Model

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

AlphaFold

P97411

Predicted Effect

probably benign
Transcript: ENSMUST00000038403
AA Change: D381E

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

SMART Domains

Protein: ENSMUSP00000040062
Gene: ENSMUSG00000062995
AA Change: D381E

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: ENSMUST00000115519
AA Change: D368E

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

SMART Domains

Protein: ENSMUSP00000111181
Gene: ENSMUSG00000062995
AA Change: D368E

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
AA Change: D381E

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

SMART Domains

Protein: ENSMUSP00000111182
Gene: ENSMUSG00000062995
AA Change: D381E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145870

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: 98.4%
10x: 96.7%
20x: 93.7%

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	C	3: 137,771,503 (GRCm39)	S231R	probably benign	Het
5730455P16Rik	A	T	11: 80,265,041 (GRCm39)	I137N	probably damaging	Het
Abhd10	G	A	16: 45,557,279 (GRCm39)	Q176*	probably null	Het
Acer3	T	C	7: 97,910,804 (GRCm39)	Y86C	probably damaging	Het
Ankrd36	T	C	11: 5,557,120 (GRCm39)	V356A	probably benign	Het
Atp1a1	A	G	3: 101,502,312 (GRCm39)		probably null	Het
Bmp8b	G	A	4: 123,015,793 (GRCm39)	R260Q	possibly damaging	Het
C2cd3	T	A	7: 100,065,539 (GRCm39)	V775D	possibly damaging	Het
Cacna1b	T	A	2: 24,622,337 (GRCm39)	I216F	probably damaging	Het
Capn5	T	A	7: 97,780,925 (GRCm39)	N284I	probably damaging	Het
Cbr1	C	A	16: 93,406,942 (GRCm39)	D219E	probably benign	Het
Cdca2	C	T	14: 67,950,589 (GRCm39)	R114Q	probably damaging	Het
Cdh20	G	A	1: 109,922,055 (GRCm39)	W49*	probably null	Het
Cep152	C	T	2: 125,406,015 (GRCm39)	V1506I	probably benign	Het
Cfap97	C	T	8: 46,648,334 (GRCm39)	Q537*	probably null	Het
Cpsf2	T	A	12: 101,963,091 (GRCm39)	V385E	probably damaging	Het
Dse	A	G	10: 34,029,584 (GRCm39)	V502A	possibly damaging	Het
Fam171a1	T	A	2: 3,224,550 (GRCm39)	F300L	probably benign	Het
Fnip1	T	G	11: 54,391,382 (GRCm39)	N438K	probably damaging	Het
Fstl5	C	T	3: 76,500,807 (GRCm39)	T412M	probably damaging	Het
Gm11938	T	A	11: 99,494,059 (GRCm39)	Q12L	unknown	Het
Hcls1	G	T	16: 36,775,678 (GRCm39)	A171S	probably damaging	Het
Hcn1	ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC	13: 118,112,269 (GRCm39)		probably benign	Het
Hydin	G	T	8: 111,137,096 (GRCm39)	C633F	probably damaging	Het
Ift74	A	G	4: 94,541,234 (GRCm39)	K220E	probably benign	Het
Igfn1	A	T	1: 135,882,600 (GRCm39)	D2748E	probably benign	Het
Il16	A	C	7: 83,300,104 (GRCm39)	D396E	probably benign	Het
Impdh1	G	T	6: 29,205,201 (GRCm39)	A200E	possibly damaging	Het
Itga4	C	T	2: 79,144,054 (GRCm39)	T647I	possibly damaging	Het
Jpt1	A	T	11: 115,391,497 (GRCm39)	M104K	probably benign	Het
Krt73	C	A	15: 101,702,436 (GRCm39)	A476S	probably benign	Het
Lama3	T	C	18: 12,546,828 (GRCm39)	Y363H	probably damaging	Het
Lgr4	C	T	2: 109,827,027 (GRCm39)	P177L	probably damaging	Het
Lrp2	T	C	2: 69,312,608 (GRCm39)	D2560G	probably damaging	Het
Ly6m	T	C	15: 74,752,532 (GRCm39)	N48S	probably benign	Het
Macf1	A	T	4: 123,270,295 (GRCm39)	F6617I	probably damaging	Het
Mcf2l	T	A	8: 13,068,051 (GRCm39)		probably null	Het
Mcub	T	A	3: 129,763,600 (GRCm39)	Q42L	probably damaging	Het
Mfsd9	C	T	1: 40,820,700 (GRCm39)	V150I	possibly damaging	Het
Myo15b	T	C	11: 115,770,478 (GRCm39)	V96A	probably damaging	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Or10aa3	T	G	1: 173,878,244 (GRCm39)	Y102D	probably damaging	Het
Or10g6	T	C	9: 39,933,994 (GRCm39)	F102L	possibly damaging	Het
Or1r1	A	G	11: 73,875,221 (GRCm39)	V71A	probably benign	Het
Pgap6	T	C	17: 26,340,515 (GRCm39)	V633A	probably damaging	Het
Pinlyp	T	A	7: 24,241,568 (GRCm39)	I153F	possibly damaging	Het
Plk2	A	C	13: 110,534,307 (GRCm39)	M296L	probably benign	Het
Plvap	T	C	8: 71,960,630 (GRCm39)	Y262C	probably benign	Het
Ppfia3	C	A	7: 44,990,581 (GRCm39)	G1066V	probably damaging	Het
Prokr1	A	G	6: 87,565,842 (GRCm39)	M1T	probably null	Het
Ptgs2	G	T	1: 149,981,138 (GRCm39)	A474S	probably benign	Het
Pth2r	A	G	1: 65,427,676 (GRCm39)	T450A	possibly damaging	Het
Ranbp6	A	T	19: 29,789,037 (GRCm39)	F438L	probably damaging	Het
Ripor1	A	T	8: 106,341,622 (GRCm39)	Q102L	probably damaging	Het
Rprd2	C	T	3: 95,694,686 (GRCm39)	V116I	probably benign	Het
Sacs	T	C	14: 61,449,258 (GRCm39)	V3768A	probably damaging	Het
Scn8a	T	C	15: 100,913,832 (GRCm39)	Y1075H	probably damaging	Het
Senp3	C	T	11: 69,569,063 (GRCm39)	G366D	probably damaging	Het
Smim1	T	C	4: 154,108,107 (GRCm39)		probably benign	Het
Sptan1	A	G	2: 29,886,447 (GRCm39)	I817V	probably damaging	Het
Stag3	A	T	5: 138,307,461 (GRCm39)		probably benign	Het
Stk17b	A	T	1: 53,810,867 (GRCm39)	H79Q	probably damaging	Het
Svil	A	G	18: 5,088,813 (GRCm39)	K1296E	probably damaging	Het
Tmem117	T	A	15: 94,992,331 (GRCm39)	Y330*	probably null	Het
Tnxb	G	T	17: 34,890,917 (GRCm39)	R420L	probably damaging	Het
Trim9	C	A	12: 70,393,845 (GRCm39)	C33F	probably damaging	Het
Usp29	A	C	7: 6,965,747 (GRCm39)	Y530S	probably benign	Het
Vps26b	T	C	9: 26,921,752 (GRCm39)	T258A	possibly damaging	Het
Vrtn	C	A	12: 84,695,600 (GRCm39)	H117N	probably damaging	Het
Wdr33	C	T	18: 32,014,301 (GRCm39)	H388Y	probably damaging	Het
Zfp451	A	T	1: 33,821,186 (GRCm39)	V222D	possibly damaging	Het
Zfp953	A	G	13: 67,491,193 (GRCm39)	I253T	probably benign	Het
Zfy2	A	G	Y: 2,116,194 (GRCm39)	V282A	probably benign	Het
Zscan29	A	T	2: 120,999,805 (GRCm39)	V132D	probably damaging	Het
Zswim4	G	T	8: 84,963,586 (GRCm39)	D16E	probably benign	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
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

PCR Primer
(F):5'- GAGAGGCCTGGAGATCTTTC -3'
(R):5'- CTGTTAATAAAGGGTGTCATGGGAC -3'

Sequencing Primer
(F):5'- CATATTTTGGTCTAAAAGCTGTGACG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'

Posted On

2015-12-29