Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03366:Spin1'

420094

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spin1

Ensembl Gene

ENSMUSG00000021395

Gene Name

spindlin 1

Synonyms

Spin

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03366

Quality Score

Status

Chromosome

Chromosomal Location

51100880-51152546 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51127937 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 22 (V22A)

Ref Sequence

ENSEMBL: ENSMUSP00000093473 (fasta)

Gene Model

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

AlphaFold

Q61142

Predicted Effect

probably benign
Transcript: ENSMUST00000095797
AA Change: V22A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000093473
Gene: ENSMUSG00000021395
AA Change: V22A

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

Coding Region Coverage

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap2a2	T	A	7: 141,629,273	S793T	probably benign	Het
Btnl6	T	C	17: 34,508,179	D459G	probably damaging	Het
Cacna1g	C	A	11: 94,457,151	D704Y	probably damaging	Het
Cry2	A	G	2: 92,413,715	I371T	probably damaging	Het
Dock3	A	T	9: 107,005,433	F384I	probably benign	Het
Dpp4	T	C	2: 62,356,957		probably null	Het
Hecw1	G	T	13: 14,377,797	D72E	probably damaging	Het
Htt	T	A	5: 34,907,580	W3046R	probably damaging	Het
Hydin	A	T	8: 110,267,363	N10Y	unknown	Het
Ighv8-8	T	A	12: 115,294,140	T94S	probably benign	Het
Igkv4-58	A	G	6: 69,500,554	S20P	probably damaging	Het
Il4i1	T	C	7: 44,837,495		probably benign	Het
Kif13a	A	T	13: 46,764,623	S403T	probably benign	Het
Klhl40	T	C	9: 121,783,380	L616P	probably damaging	Het
Krt7	T	C	15: 101,427,610	L440P	possibly damaging	Het
Lpin1	A	G	12: 16,544,677	L755P	probably damaging	Het
Magee2	C	A	X: 104,855,528	E506*	probably null	Het
Mast3	G	A	8: 70,781,563	R143*	probably null	Het
Med12	T	A	X: 101,278,089	H459Q	probably benign	Het
Mmp3	T	C	9: 7,450,149	S294P	probably benign	Het
Muc6	T	C	7: 141,648,082	Y714C	probably damaging	Het
Myh2	T	C	11: 67,183,523	L662S	probably damaging	Het
Notch4	G	T	17: 34,572,568	C567F	probably damaging	Het
Nprl3	A	G	11: 32,250,256	I20T	probably damaging	Het
Olfr1123	A	T	2: 87,418,243	D65V	possibly damaging	Het
Pcdhb19	A	G	18: 37,498,612	T487A	possibly damaging	Het
Phlpp2	A	G	8: 109,940,835	E1332G	probably benign	Het
Pick1	T	C	15: 79,241,281	S113P	probably damaging	Het
Ptpru	T	C	4: 131,779,867	E1023G	probably damaging	Het
Rspry1	A	C	8: 94,650,334	I382L	probably benign	Het
Sf3b3	A	C	8: 110,839,954	V248G	probably damaging	Het
Smg5	T	A	3: 88,346,452	Y126*	probably null	Het
Spert	A	G	14: 75,583,389	S299P	probably benign	Het
Stab1	C	T	14: 31,150,263	R1189Q	possibly damaging	Het
Sytl5	A	G	X: 9,963,700	D538G	probably damaging	Het
Taar7e	T	A	10: 24,037,915	M101K	probably damaging	Het
Taf4	A	G	2: 179,935,054	V578A	probably damaging	Het
Tmem266	G	T	9: 55,437,233	C383F	probably benign	Het
Trim34a	T	C	7: 104,260,933		probably null	Het
Vmn2r104	T	C	17: 20,029,604	T802A	probably damaging	Het
Vmn2r32	A	C	7: 7,464,030	I833S	probably damaging	Het
Vmn2r85	T	C	10: 130,426,459	D137G	probably benign	Het
Vps13c	C	T	9: 67,946,026	S2467L	probably benign	Het

Other mutations in Spin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00955:Spin1	APN	13	51144541	splice site	probably null
IGL02825:Spin1	APN	13	51123296	splice site	probably benign
R0050:Spin1	UTSW	13	51150418	utr 3 prime	probably benign
R0139:Spin1	UTSW	13	51149012	missense	probably benign	0.01
R0745:Spin1	UTSW	13	51139515	missense	probably damaging	0.96
R1394:Spin1	UTSW	13	51144481	missense	probably damaging	1.00
R1674:Spin1	UTSW	13	51149099	missense	probably damaging	1.00
R1980:Spin1	UTSW	13	51144470	missense	probably damaging	1.00
R2070:Spin1	UTSW	13	51144537	critical splice donor site	probably null
R5326:Spin1	UTSW	13	51139527	missense	probably damaging	1.00
R5741:Spin1	UTSW	13	51149135	missense	possibly damaging	0.81
R6030:Spin1	UTSW	13	51139516	nonsense	probably null
R6030:Spin1	UTSW	13	51139516	nonsense	probably null
R6182:Spin1	UTSW	13	51144338	missense	probably benign
R7423:Spin1	UTSW	13	51123290	critical splice donor site	probably null
R7555:Spin1	UTSW	13	51149049	missense	probably benign	0.02
R8912:Spin1	UTSW	13	51144397	missense	probably damaging	1.00
R9014:Spin1	UTSW	13	51127974	critical splice donor site	probably null

Posted On

2016-08-02