Mutagenetix > Incidental Mutation

Incidental Mutation 'R0745:Spin1'

70932

Institutional Source

Beutler Lab

Gene Symbol

Spin1

Ensembl Gene

ENSMUSG00000021395

Gene Name

spindlin 1

Synonyms

Spin

MMRRC Submission

038926-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0745 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51254916-51306582 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51293551 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 87 (Y87C)

Ref Sequence

ENSEMBL: ENSMUSP00000093473 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095797]

AlphaFold

Q61142

Predicted Effect

probably damaging
Transcript: ENSMUST00000095797
AA Change: Y87C

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000093473
Gene: ENSMUSG00000021395
AA Change: Y87C

Domain	Start	End	E-Value	Type
Pfam:Spin-Ssty	54	103	7.3e-30	PFAM
Pfam:Spin-Ssty	133	182	1.2e-26	PFAM
Pfam:Spin-Ssty	214	259	1.2e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223152

Meta Mutation Damage Score

0.7806

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.4%
20x: 95.0%

Validation Efficiency

100% (40/40)

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trapped allele display complete postnatal lethality. Although mutant female mice exhibit normal follicular development and oocyte growth, fully grown oocytes are defective in resuming meiosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	A	T	2: 150,675,068 (GRCm39)		probably null	Het
Adam17	A	G	12: 21,382,222 (GRCm39)		probably benign	Het
Aldh1l2	T	A	10: 83,354,494 (GRCm39)		probably null	Het
Bltp1	A	G	3: 36,982,612 (GRCm39)	Y759C	probably damaging	Het
Brca2	A	T	5: 150,468,347 (GRCm39)		probably benign	Het
Capn13	A	C	17: 73,658,503 (GRCm39)	D188E	probably benign	Het
Col14a1	A	T	15: 55,201,813 (GRCm39)	T34S	unknown	Het
Col5a2	A	G	1: 45,446,387 (GRCm39)		probably null	Het
Cyp4v3	A	G	8: 45,761,688 (GRCm39)		probably benign	Het
Dlat	G	A	9: 50,565,008 (GRCm39)	T233M	probably damaging	Het
Eef2	C	T	10: 81,017,830 (GRCm39)	P831S	probably benign	Het
Endod1	A	T	9: 14,268,413 (GRCm39)	N357K	possibly damaging	Het
Evc	A	T	5: 37,476,403 (GRCm39)	V205E	probably damaging	Het
Fryl	A	G	5: 73,228,469 (GRCm39)	L1754P	probably damaging	Het
Gabra6	A	T	11: 42,207,394 (GRCm39)	M230K	probably damaging	Het
Hsd3b5	A	G	3: 98,526,855 (GRCm39)	V197A	probably benign	Het
Kmt2c	A	T	5: 25,564,696 (GRCm39)		probably null	Het
Mthfsd	A	T	8: 121,829,688 (GRCm39)	L116Q	probably damaging	Het
Mug1	A	G	6: 121,864,386 (GRCm39)	T1428A	probably benign	Het
Obscn	A	G	11: 58,973,065 (GRCm39)	V2312A	probably benign	Het
Or1i2	T	C	10: 78,447,956 (GRCm39)	E173G	probably benign	Het
Palld	G	A	8: 62,330,737 (GRCm39)	R47C	probably damaging	Het
Pds5b	A	G	5: 150,729,136 (GRCm39)	T1424A	probably benign	Het
Ppp6r2	G	A	15: 89,149,445 (GRCm39)		probably null	Het
Sik3	A	G	9: 46,109,537 (GRCm39)	N505S	probably benign	Het
Tcp11	T	C	17: 28,286,134 (GRCm39)	I494V	possibly damaging	Het
Tgfa	G	A	6: 86,248,417 (GRCm39)	E140K	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trmo	A	G	4: 46,382,104 (GRCm39)	F338L	probably damaging	Het
Tspan17	T	C	13: 54,937,487 (GRCm39)	V27A	possibly damaging	Het
Tut4	C	G	4: 108,360,152 (GRCm39)		probably benign	Het
Uba5	A	G	9: 103,926,710 (GRCm39)		probably benign	Het
Unc5a	CTGTGTGTGTGTGTGT	CTGTGTGTGTGTGT	13: 55,153,068 (GRCm39)		probably null	Het
Zbbx	C	T	3: 75,062,734 (GRCm39)	V8I	probably damaging	Het
Zfp451	A	T	1: 33,809,929 (GRCm39)	L931*	probably null	Het
Zmym4	A	T	4: 126,796,496 (GRCm39)		probably benign	Het

Other mutations in Spin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00955:Spin1	APN	13	51,298,577 (GRCm39)	splice site	probably null
IGL02825:Spin1	APN	13	51,277,332 (GRCm39)	splice site	probably benign
IGL03366:Spin1	APN	13	51,281,973 (GRCm39)	missense	probably benign	0.03
R0050:Spin1	UTSW	13	51,304,454 (GRCm39)	utr 3 prime	probably benign
R0139:Spin1	UTSW	13	51,303,048 (GRCm39)	missense	probably benign	0.01
R1394:Spin1	UTSW	13	51,298,517 (GRCm39)	missense	probably damaging	1.00
R1674:Spin1	UTSW	13	51,303,135 (GRCm39)	missense	probably damaging	1.00
R1980:Spin1	UTSW	13	51,298,506 (GRCm39)	missense	probably damaging	1.00
R2070:Spin1	UTSW	13	51,298,573 (GRCm39)	critical splice donor site	probably null
R5326:Spin1	UTSW	13	51,293,563 (GRCm39)	missense	probably damaging	1.00
R5741:Spin1	UTSW	13	51,303,171 (GRCm39)	missense	possibly damaging	0.81
R6030:Spin1	UTSW	13	51,293,552 (GRCm39)	nonsense	probably null
R6030:Spin1	UTSW	13	51,293,552 (GRCm39)	nonsense	probably null
R6182:Spin1	UTSW	13	51,298,374 (GRCm39)	missense	probably benign
R7423:Spin1	UTSW	13	51,277,326 (GRCm39)	critical splice donor site	probably null
R7555:Spin1	UTSW	13	51,303,085 (GRCm39)	missense	probably benign	0.02
R8912:Spin1	UTSW	13	51,298,433 (GRCm39)	missense	probably damaging	1.00
R9014:Spin1	UTSW	13	51,282,010 (GRCm39)	critical splice donor site	probably null
R9735:Spin1	UTSW	13	51,293,521 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAACATCGGACCAGTGTGGGACC -3'
(R):5'- AAGGCTCTTCATCACGCCCTGAAC -3'

Sequencing Primer
(F):5'- GACCAAGCAAGCCTGTGTC -3'
(R):5'- ATGGTTTCAGAACATCTGCCTG -3'

Posted On

2013-09-30