Mutagenetix > Incidental Mutation

Incidental Mutation 'R6221:Ica1'

504015

Institutional Source

Beutler Lab

Gene Symbol

Ica1

Ensembl Gene

ENSMUSG00000062995

Gene Name

islet cell autoantigen 1

Synonyms

ICA69, 69kDa

MMRRC Submission

044432-MU

Accession Numbers

Essential gene?

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

Stock #

R6221 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8630527-8778488 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 8644181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 369 (L369F)

Ref Sequence

ENSEMBL: ENSMUSP00000111182 (fasta)

Gene Model

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

AlphaFold

P97411

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038403
AA Change: L369F

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000040062
Gene: ENSMUSG00000062995
AA Change: L369F

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: L356F

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000111181
Gene: ENSMUSG00000062995
AA Change: L356F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115520
AA Change: L369F

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111182
Gene: ENSMUSG00000062995
AA Change: L369F

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

99% (66/67)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,824,874 (GRCm39)	M108V	probably benign	Het
Adgrl1	C	T	8: 84,664,316 (GRCm39)	Q1236*	probably null	Het
Adprhl1	T	C	8: 13,275,634 (GRCm39)	I375V	probably benign	Het
Bsn	A	G	9: 107,982,765 (GRCm39)	S3663P	unknown	Het
Cfap44	A	T	16: 44,257,549 (GRCm39)	Q1028L	probably benign	Het
Cftr	A	C	6: 18,282,500 (GRCm39)	T1067P	probably benign	Het
Col1a2	T	C	6: 4,539,490 (GRCm39)	S1253P	unknown	Het
Dkk3	A	G	7: 111,720,853 (GRCm39)	Y158H	probably damaging	Het
Dmxl1	A	G	18: 50,004,799 (GRCm39)	Y949C	probably damaging	Het
E130311K13Rik	T	C	3: 63,823,152 (GRCm39)	Y164C	probably benign	Het
Evx1	T	A	6: 52,293,768 (GRCm39)	V312E	probably damaging	Het
Fam240b	T	C	13: 64,629,591 (GRCm39)	N75S	probably benign	Het
Fat2	A	G	11: 55,186,898 (GRCm39)		probably null	Het
Fbn1	G	T	2: 125,162,841 (GRCm39)	D2148E	probably benign	Het
Fzd4	A	G	7: 89,054,100 (GRCm39)	H69R	probably damaging	Het
Fzd6	T	C	15: 38,894,239 (GRCm39)	V135A	probably benign	Het
Gimap8	T	C	6: 48,635,876 (GRCm39)	L547S	probably damaging	Het
Gnrhr	G	A	5: 86,333,262 (GRCm39)	Q203*	probably null	Het
Gpaa1	T	G	15: 76,218,032 (GRCm39)	V341G	probably benign	Het
Grik3	T	A	4: 125,598,916 (GRCm39)	L828Q	probably damaging	Het
Heatr5b	T	C	17: 79,074,383 (GRCm39)	N1568S	probably benign	Het
Hpf1	T	A	8: 61,346,808 (GRCm39)	V41E	probably damaging	Het
Hsd3b1	A	T	3: 98,760,472 (GRCm39)	M173K	probably benign	Het
Hsd3b6	A	G	3: 98,713,849 (GRCm39)	I150T	probably benign	Het
Inf2	T	G	12: 112,570,179 (GRCm39)	S293A	possibly damaging	Het
Klra10	T	C	6: 130,246,235 (GRCm39)	T247A	probably benign	Het
Kpna1	G	A	16: 35,841,058 (GRCm39)	G91D	probably benign	Het
Ldlrap1	C	T	4: 134,484,671 (GRCm39)	E108K	probably damaging	Het
Ltb4r2	C	T	14: 55,999,540 (GRCm39)	R54W	probably damaging	Het
Mki67	A	G	7: 135,299,643 (GRCm39)	F1797S	probably benign	Het
Mlh3	C	A	12: 85,315,192 (GRCm39)	Q331H	possibly damaging	Het
Nol11	G	T	11: 107,062,442 (GRCm39)	T598K	possibly damaging	Het
Odad1	T	C	7: 45,596,903 (GRCm39)	L410P	probably damaging	Het
Or5b124	T	A	19: 13,610,830 (GRCm39)	Y118*	probably null	Het
Oxct2b	T	C	4: 123,010,601 (GRCm39)	Y174H	probably damaging	Het
Pakap	C	T	4: 57,855,618 (GRCm39)	Q559*	probably null	Het
Pclo	G	A	5: 14,725,327 (GRCm39)	R1395Q	unknown	Het
Ppara	A	G	15: 85,661,881 (GRCm39)	I41V	probably benign	Het
Ppip5k2	A	T	1: 97,657,753 (GRCm39)	I766K	probably damaging	Het
Ppm1j	A	G	3: 104,693,092 (GRCm39)	N483S	possibly damaging	Het
Prex2	T	C	1: 11,336,236 (GRCm39)	I1478T	probably benign	Het
Ror2	T	C	13: 53,267,253 (GRCm39)	Y394C	probably damaging	Het
Rsl1d1	A	G	16: 11,019,175 (GRCm39)	V121A	probably damaging	Het
Sart3	C	T	5: 113,881,267 (GRCm39)	A938T	probably benign	Het
Slc15a1	T	C	14: 121,702,316 (GRCm39)	Q610R	probably null	Het
Slc1a6	A	G	10: 78,635,910 (GRCm39)	E325G	probably damaging	Het
Slc7a13	A	G	4: 19,839,305 (GRCm39)	I303V	probably benign	Het
Smc3	T	A	19: 53,630,362 (GRCm39)	V1123E	probably damaging	Het
Smco1	G	A	16: 32,092,023 (GRCm39)	V34I	probably benign	Het
Spag1	A	G	15: 36,197,949 (GRCm39)	R304G	probably benign	Het
Spata31f1e	A	T	4: 42,793,153 (GRCm39)	N326K	probably benign	Het
Spta1	A	G	1: 174,009,342 (GRCm39)	D293G	probably damaging	Het
Sspo	C	A	6: 48,440,639 (GRCm39)	P1751Q	probably damaging	Het
Syt14	A	T	1: 192,612,908 (GRCm39)	Y631N	probably damaging	Het
Taar3	A	G	10: 23,825,970 (GRCm39)	N172S	possibly damaging	Het
Tank	A	G	2: 61,480,427 (GRCm39)	E321G	probably damaging	Het
Tcstv5	T	G	13: 120,411,534 (GRCm39)	H24P	probably damaging	Het
Thbs1	C	A	2: 117,950,478 (GRCm39)	L704M	probably damaging	Het
Tmem116	C	T	5: 121,629,171 (GRCm39)	T188M	probably benign	Het
Togaram1	A	T	12: 65,013,320 (GRCm39)	E190D	probably damaging	Het
Traf1	A	C	2: 34,838,313 (GRCm39)	V175G	probably benign	Het
Trib3	A	T	2: 152,180,528 (GRCm39)	C222S	probably damaging	Het
Tsen34	T	A	7: 3,698,543 (GRCm39)	I229N	probably damaging	Het
Ttc28	A	G	5: 111,419,114 (GRCm39)	D1370G	probably benign	Het
Ugt1a5	G	A	1: 88,093,964 (GRCm39)	R64H	probably benign	Het
Vdac2	G	A	14: 21,895,246 (GRCm39)	G265R	possibly damaging	Het
Vdac3	A	G	8: 23,078,759 (GRCm39)	V17A	possibly damaging	Het
Yif1b	C	T	7: 28,945,207 (GRCm39)	T220I	possibly damaging	Het
Zfp846	T	G	9: 20,504,591 (GRCm39)	H150Q	possibly damaging	Het
Zwilch	A	T	9: 64,068,665 (GRCm39)	H181Q	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
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
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'- AGCTGTGACGGAAGGAATCC -3'
(R):5'- ACCTGTTAATAAAGGGTGTCATGGG -3'

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

Posted On

2018-02-28