Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01526:Ica1l'

89571

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ica1l

Ensembl Gene

ENSMUSG00000026018

Gene Name

islet cell autoantigen 1-like

Synonyms

1700030B17Rik, Als2cr15

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01526

Quality Score

Status

Chromosome

Chromosomal Location

59982490-60043184 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 60015757 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 105 (M105T)

Ref Sequence

ENSEMBL: ENSMUSP00000140520 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027172] [ENSMUST00000189776] [ENSMUST00000191251]

Predicted Effect

probably damaging
Transcript: ENSMUST00000027172
AA Change: M105T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027172
Gene: ENSMUSG00000026018
AA Change: M105T

Domain	Start	End	E-Value	Type
Arfaptin	15	242	1.03e-112	SMART
ICA69	254	431	1.35e-75	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187364

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189776
AA Change: M105T

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000141103
Gene: ENSMUSG00000026018
AA Change: M105T

Domain	Start	End	E-Value	Type
Arfaptin	15	242	7.8e-117	SMART
ICA69	254	439	2.7e-64	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000191251
AA Change: M105T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140520
Gene: ENSMUSG00000026018
AA Change: M105T

Domain	Start	End	E-Value	Type
Arfaptin	15	242	1.03e-112	SMART
ICA69	254	431	1.35e-75	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit reduced male fertility with oligospermia, globospermia, and abnormal spermiogenesis, sperm nucleus and mitochondrial sheath morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500002C15Rik	G	T	4: 155,734,171		probably benign	Het
4933430I17Rik	G	T	4: 62,532,621	R107L	possibly damaging	Het
9130204L05Rik	T	A	3: 91,088,305		probably benign	Het
Acvr1	A	T	2: 58,458,985	D388E	probably benign	Het
Art3	T	C	5: 92,414,340	S354P	probably damaging	Het
Bpnt1	C	A	1: 185,345,394	S102*	probably null	Het
C530008M17Rik	T	A	5: 76,857,631	M613K	unknown	Het
Ces1a	G	T	8: 93,045,098	P24T	probably damaging	Het
Cfap65	A	T	1: 74,911,078	S1171T	probably damaging	Het
Csn2	T	C	5: 87,694,979	H47R	possibly damaging	Het
Gm14496	T	A	2: 181,995,665	D177E	probably benign	Het
Hmbs	A	G	9: 44,339,548	V126A	possibly damaging	Het
Morc2a	G	A	11: 3,650,428	E17K	probably benign	Het
Mroh8	T	C	2: 157,238,312		probably benign	Het
Mroh9	G	T	1: 163,055,603	L436I	probably damaging	Het
Nup54	T	C	5: 92,417,475	D461G	probably benign	Het
Olfr1123	A	T	2: 87,418,975	D309V	probably damaging	Het
Olfr315	A	G	11: 58,778,297	T57A	probably benign	Het
Pcid2	G	A	8: 13,085,319		probably benign	Het
Ppp1r3b	G	T	8: 35,384,718	R237L	probably benign	Het
Prdm11	A	G	2: 93,012,757	V119A	probably damaging	Het
Serpina5	T	A	12: 104,101,890	V70E	probably damaging	Het
Skap2	C	T	6: 51,907,914	D249N	probably benign	Het
Slc22a29	A	T	19: 8,207,178		probably benign	Het
Slc4a1ap	C	A	5: 31,528,227	T283K	possibly damaging	Het
Slc6a21	T	G	7: 45,287,796	I575S	probably damaging	Het
Smpd1	T	G	7: 105,554,775	W82G	probably benign	Het
Snx14	T	A	9: 88,381,500	M897L	probably damaging	Het
Tjp1	A	G	7: 65,322,658	V586A	probably damaging	Het
Tmc8	T	C	11: 117,792,084		probably benign	Het
Trim34a	A	G	7: 104,260,499	Y298C	probably damaging	Het
Ube3c	T	C	5: 29,667,962	V1000A	probably damaging	Het

Other mutations in Ica1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:Ica1l	APN	1	60013947	missense	probably damaging	1.00
IGL02538:Ica1l	APN	1	60010186	missense	probably benign	0.01
IGL02966:Ica1l	APN	1	60010139	missense	probably damaging	1.00
IGL03379:Ica1l	APN	1	59997621	missense	probably benign	0.07
PIT4466001:Ica1l	UTSW	1	60015836	critical splice acceptor site	probably null
R0278:Ica1l	UTSW	1	60013996	missense	probably benign	0.05
R0780:Ica1l	UTSW	1	59997449	critical splice donor site	probably null
R0926:Ica1l	UTSW	1	60006297	missense	probably benign	0.09
R1834:Ica1l	UTSW	1	60028236	utr 5 prime	probably benign
R2402:Ica1l	UTSW	1	60006292	missense	probably benign	0.00
R4155:Ica1l	UTSW	1	60013893	missense	possibly damaging	0.71
R4545:Ica1l	UTSW	1	60013818	critical splice donor site	probably null
R4754:Ica1l	UTSW	1	60028162	missense	probably damaging	1.00
R4791:Ica1l	UTSW	1	60010201	missense	probably damaging	1.00
R5096:Ica1l	UTSW	1	60028154	missense	possibly damaging	0.92
R5217:Ica1l	UTSW	1	60015758	missense	probably benign	0.03
R5461:Ica1l	UTSW	1	60013851	missense	probably damaging	1.00
R5780:Ica1l	UTSW	1	60028215	missense	probably benign	0.04
R6557:Ica1l	UTSW	1	59997625	missense	probably benign	0.28
R7560:Ica1l	UTSW	1	60010210	nonsense	probably null

Posted On

2013-12-03