Mutagenetix > Incidental Mutation

Incidental Mutation 'R5096:Ica1l'

388011

Institutional Source

Beutler Lab

Gene Symbol

Ica1l

Ensembl Gene

ENSMUSG00000026018

Gene Name

islet cell autoantigen 1-like

Synonyms

Als2cr15, b2b3465Clo, 1700030B17Rik

MMRRC Submission

042685-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5096 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60024955-60082646 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60067313 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 26 (T26A)

Ref Sequence

ENSEMBL: ENSMUSP00000140520 (fasta)

Gene Model

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

AlphaFold

Q3TY65

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027172
AA Change: T26A

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027172
Gene: ENSMUSG00000026018
AA Change: T26A

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: ENSMUST00000186970

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189776
AA Change: T26A

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000141103
Gene: ENSMUSG00000026018
AA Change: T26A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000191251
AA Change: T26A

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140520
Gene: ENSMUSG00000026018
AA Change: T26A

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

Meta Mutation Damage Score

0.2003

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.6%

Validation Efficiency

95% (61/64)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	A	T	14: 54,916,679 (GRCm39)		probably benign	Het
Adar	T	A	3: 89,654,598 (GRCm39)	*728C	probably null	Het
Ap3b1	A	G	13: 94,616,357 (GRCm39)	R753G	unknown	Het
Atp9b	C	T	18: 80,805,399 (GRCm39)	V720I	probably benign	Het
AY358078	A	C	14: 52,063,575 (GRCm39)	D407A	probably benign	Het
Ccdc185	A	G	1: 182,576,354 (GRCm39)	S112P	possibly damaging	Het
Cir1	A	G	2: 73,134,105 (GRCm39)	S155P	probably damaging	Het
Colq	C	T	14: 31,274,911 (GRCm39)	E76K	possibly damaging	Het
Cthrc1	T	A	15: 38,947,815 (GRCm39)	I104N	probably damaging	Het
D930020B18Rik	A	T	10: 121,503,709 (GRCm39)	I92L	probably benign	Het
Eif3i	C	T	4: 129,494,237 (GRCm39)	E21K	probably damaging	Het
Fam114a1	T	A	5: 65,137,234 (GRCm39)	M59K	probably benign	Het
Fam163b	A	G	2: 27,002,761 (GRCm39)	S79P	probably benign	Het
Fam181b	T	G	7: 92,730,452 (GRCm39)		probably benign	Het
Fsip2	G	A	2: 82,821,460 (GRCm39)	S5731N	probably benign	Het
Fzd9	C	T	5: 135,278,713 (GRCm39)	V391I	probably damaging	Het
Gbp5	A	G	3: 142,207,122 (GRCm39)	D97G	probably damaging	Het
Gm10715	T	C	9: 3,038,157 (GRCm39)		probably benign	Het
Grhl1	A	T	12: 24,653,049 (GRCm39)	K418M	probably damaging	Het
H2-Q4	T	A	17: 35,598,689 (GRCm39)		probably benign	Het
Hmcn1	C	A	1: 150,486,420 (GRCm39)	A4329S	probably damaging	Het
Hspa8	T	C	9: 40,714,197 (GRCm39)		probably benign	Het
Ifi209	T	A	1: 173,472,300 (GRCm39)	N380K	probably benign	Het
Inpp5e	G	T	2: 26,289,537 (GRCm39)	N482K	probably damaging	Het
Iqsec3	C	T	6: 121,363,657 (GRCm39)	V866M	probably damaging	Het
Kbtbd2	A	G	6: 56,756,260 (GRCm39)	V492A	probably benign	Het
Kcnb2	A	G	1: 15,781,068 (GRCm39)	R647G	probably benign	Het
Lcmt1	T	G	7: 123,000,691 (GRCm39)	V75G	probably damaging	Het
Lrp4	A	G	2: 91,316,137 (GRCm39)	I752V	possibly damaging	Het
Mmp17	C	A	5: 129,682,627 (GRCm39)	P422Q	probably damaging	Het
Myo3a	A	T	2: 22,464,254 (GRCm39)	H165L	probably benign	Het
Nos3	C	T	5: 24,576,955 (GRCm39)	T494I	probably damaging	Het
Or1ak2	T	C	2: 36,827,815 (GRCm39)	V228A	possibly damaging	Het
Or4p22	C	T	2: 88,317,646 (GRCm39)	T190I	possibly damaging	Het
Or51q1c	T	C	7: 103,652,667 (GRCm39)	Y68H	probably benign	Het
Or8u8	A	G	2: 86,012,276 (GRCm39)	Y60H	probably damaging	Het
Pkn2	A	C	3: 142,545,092 (GRCm39)	V27G	probably damaging	Het
Scube2	T	C	7: 109,398,451 (GRCm39)		probably benign	Het
Skint7	A	G	4: 111,839,152 (GRCm39)	I149V	probably damaging	Het
Smc4	T	A	3: 68,928,612 (GRCm39)	I412K	probably damaging	Het
Snx19	T	A	9: 30,340,082 (GRCm39)	C407S	probably benign	Het
Speer3	C	G	5: 13,846,394 (GRCm39)	A238G	possibly damaging	Het
Sytl2	T	A	7: 90,025,290 (GRCm39)	I426N	possibly damaging	Het
Tbce	A	T	13: 14,203,990 (GRCm39)		probably benign	Het
Tdpoz2	T	C	3: 93,559,819 (GRCm39)	E51G	possibly damaging	Het
Tmem221	A	G	8: 72,011,353 (GRCm39)	L34P	probably damaging	Het
Tmem92	T	C	11: 94,669,862 (GRCm39)	T90A	probably benign	Het
Tpr	A	G	1: 150,321,953 (GRCm39)	D42G	probably damaging	Het
Wt1	A	G	2: 104,973,470 (GRCm39)	T237A	probably damaging	Het

Other mutations in Ica1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00771:Ica1l	APN	1	60,053,106 (GRCm39)	missense	probably damaging	1.00
IGL01526:Ica1l	APN	1	60,054,916 (GRCm39)	missense	probably damaging	0.99
IGL02538:Ica1l	APN	1	60,049,345 (GRCm39)	missense	probably benign	0.01
IGL02966:Ica1l	APN	1	60,049,298 (GRCm39)	missense	probably damaging	1.00
IGL03379:Ica1l	APN	1	60,036,780 (GRCm39)	missense	probably benign	0.07
PIT4466001:Ica1l	UTSW	1	60,054,995 (GRCm39)	critical splice acceptor site	probably null
R0278:Ica1l	UTSW	1	60,053,155 (GRCm39)	missense	probably benign	0.05
R0780:Ica1l	UTSW	1	60,036,608 (GRCm39)	critical splice donor site	probably null
R0926:Ica1l	UTSW	1	60,045,456 (GRCm39)	missense	probably benign	0.09
R1834:Ica1l	UTSW	1	60,067,395 (GRCm39)	utr 5 prime	probably benign
R2402:Ica1l	UTSW	1	60,045,451 (GRCm39)	missense	probably benign	0.00
R4155:Ica1l	UTSW	1	60,053,052 (GRCm39)	missense	possibly damaging	0.71
R4545:Ica1l	UTSW	1	60,052,977 (GRCm39)	critical splice donor site	probably null
R4754:Ica1l	UTSW	1	60,067,321 (GRCm39)	missense	probably damaging	1.00
R4791:Ica1l	UTSW	1	60,049,360 (GRCm39)	missense	probably damaging	1.00
R5217:Ica1l	UTSW	1	60,054,917 (GRCm39)	missense	probably benign	0.03
R5461:Ica1l	UTSW	1	60,053,010 (GRCm39)	missense	probably damaging	1.00
R5780:Ica1l	UTSW	1	60,067,374 (GRCm39)	missense	probably benign	0.04
R6557:Ica1l	UTSW	1	60,036,784 (GRCm39)	missense	probably benign	0.28
R7400:Ica1l	UTSW	1	60,081,801 (GRCm39)	splice site	probably null
R7560:Ica1l	UTSW	1	60,049,369 (GRCm39)	nonsense	probably null
R7819:Ica1l	UTSW	1	60,054,953 (GRCm39)	missense	possibly damaging	0.79
R7824:Ica1l	UTSW	1	60,047,029 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGCTAAACATCTTGTAGCAAAGCTG -3'
(R):5'- TCAGCTTTGCTTCATAACCAAAAT -3'

Sequencing Primer
(F):5'- CCTTCAGTGATGAACTACAGATGTGG -3'
(R):5'- CATATAAAGCAAGCATTATGCT -3'

Posted On

2016-06-06