Mutagenetix > Incidental Mutations

Incidental Mutation 'R5633:Ica1'

439975

Institutional Source

Beutler Lab

Gene Symbol

Ica1

Ensembl Gene

ENSMUSG00000062995

Gene Name

islet cell autoantigen 1

Synonyms

ICA69, 69kDa

MMRRC Submission

043284-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

R5633 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8630527-8778488 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8667257 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 303 (I303N)

Ref Sequence

ENSEMBL: ENSMUSP00000111180 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000115518
AA Change: I303N

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000111180
Gene: ENSMUSG00000062995
AA Change: I303N

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (55/56)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	A	4: 144,618,028	C125S	probably benign	Het
Abcb8	T	C	5: 24,403,109	L382P	probably damaging	Het
Acot3	A	G	12: 84,058,950		probably null	Het
Acsl6	A	T	11: 54,337,189	Q345L	probably benign	Het
Adcy8	A	G	15: 64,699,285	S1170P	probably damaging	Het
Ankrd28	T	G	14: 31,735,065	D182A	probably damaging	Het
B3galt5	A	T	16: 96,315,509	H114L	probably benign	Het
BC053393	C	T	11: 46,574,606	S9L	unknown	Het
Bcas2	T	A	3: 103,178,424	Y207*	probably null	Het
Best1	A	G	19: 9,992,103	L197P	probably benign	Het
Chil6	C	A	3: 106,388,752	C389F	probably damaging	Het
Chrna4	T	C	2: 181,029,460	T168A	probably damaging	Het
Ckmt1	C	G	2: 121,363,629		probably benign	Het
Dhcr7	T	C	7: 143,847,423	L441P	probably damaging	Het
Dmtn	T	C	14: 70,604,979	M365V	probably benign	Het
Dmxl1	T	A	18: 49,877,697	S974T	probably damaging	Het
Dnajb13	T	C	7: 100,507,419	D150G	probably benign	Het
Eef2k	C	A	7: 120,873,290		probably benign	Het
Elp2	T	A	18: 24,615,210	V213E	probably damaging	Het
Fbxo43	A	T	15: 36,162,095		probably null	Het
Gm11559	C	A	11: 99,864,586	C20*	probably null	Het
Gnb2	T	C	5: 137,529,192	I213V	probably benign	Het
Gnb5	C	T	9: 75,344,514	T306I	probably damaging	Het
Idh1	A	G	1: 65,165,136	Y272H	probably damaging	Het
Ikzf2	G	A	1: 69,539,097	Q273*	probably null	Het
Itpkb	A	T	1: 180,327,225		probably benign	Het
Kntc1	C	T	5: 123,819,057	T2143I	probably damaging	Het
Lin9	T	A	1: 180,669,198	L351I	probably benign	Het
Lmbrd1	C	A	1: 24,748,862	D464E	possibly damaging	Het
Med13	A	G	11: 86,278,931		probably benign	Het
Mn1	T	C	5: 111,420,326	F721L	possibly damaging	Het
Myo9a	T	A	9: 59,868,184	L1026Q	possibly damaging	Het
Olfr773	A	T	10: 129,186,849	F191I	probably benign	Het
P4htm	A	C	9: 108,579,723	D428E	probably damaging	Het
Parp8	C	T	13: 116,876,580	R602H	probably damaging	Het
Pkd2	T	A	5: 104,498,506	S726R	probably damaging	Het
Pla2g6	A	T	15: 79,299,142	I495N	possibly damaging	Het
Psmd5	A	G	2: 34,856,488	I359T	probably benign	Het
Rassf6	T	C	5: 90,604,118	H292R	possibly damaging	Het
Rnf145	T	C	11: 44,560,088	I413T	probably damaging	Het
Rpn2	T	A	2: 157,283,596	V9D	possibly damaging	Het
Rpp30	T	C	19: 36,086,990	L57P	probably damaging	Het
Slc41a1	A	G	1: 131,846,587	H464R	possibly damaging	Het
Slc47a1	G	T	11: 61,369,261	P163Q	probably damaging	Het
Smc4	T	A	3: 69,008,110	I165K	probably damaging	Het
Stra6l	T	A	4: 45,881,455	I439K	probably benign	Het
Syt9	C	T	7: 107,425,296	T132I	probably damaging	Het
Trpm2	T	C	10: 77,938,353	I471V	possibly damaging	Het
Uap1l1	A	G	2: 25,363,349	M358T	probably benign	Het
Vmn1r91	A	T	7: 20,101,945	H263L	possibly damaging	Het
Zfp407	T	C	18: 84,561,044	D648G	probably benign	Het
Zpbp2	T	C	11: 98,554,758	I150T	probably 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
R0826:Ica1	UTSW	6	8667375	intron	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
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

Predicted Primers

PCR Primer
(F):5'- TTCAGGTAAACTCGGTCAGCC -3'
(R):5'- TAGGAGAGAAGTGCCTGTCTTAAG -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- AGAAGTGCCTGTCTTAAGTTTTCAGC -3'

Posted On

2016-11-08