Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01400:Spin2c'

79603

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spin2c

Ensembl Gene

ENSMUSG00000046550

Gene Name

spindlin family, member 2C

Synonyms

Spin2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

IGL01400

Quality Score

Status

Chromosome

Chromosomal Location

152615246-152617239 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 152616621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 145 (W145R)

Ref Sequence

ENSEMBL: ENSMUSP00000059499 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049999] [ENSMUST00000123264] [ENSMUST00000148708]

AlphaFold

Q6NVE3

Predicted Effect

probably damaging
Transcript: ENSMUST00000049999
AA Change: W145R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059499
Gene: ENSMUSG00000046550
AA Change: W145R

Domain	Start	End	E-Value	Type
low complexity region	28	46	N/A	INTRINSIC
Pfam:Spin-Ssty	48	97	1.6e-30	PFAM
Pfam:Spin-Ssty	127	176	6.5e-27	PFAM
Pfam:Spin-Ssty	208	253	7.5e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123264

SMART Domains

Protein: ENSMUSP00000115368
Gene: ENSMUSG00000046550

Domain	Start	End	E-Value	Type
low complexity region	28	46	N/A	INTRINSIC
Pfam:Spin-Ssty	48	97	1.2e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148708

SMART Domains

Protein: ENSMUSP00000120680
Gene: ENSMUSG00000046550

Domain	Start	End	E-Value	Type
low complexity region	28	46	N/A	INTRINSIC
Pfam:Spin-Ssty	48	97	1.1e-29	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	T	5: 99,390,960 (GRCm39)	I133N	probably damaging	Het
Abl2	T	G	1: 156,462,754 (GRCm39)	C510G	probably damaging	Het
Ambp	T	C	4: 63,070,959 (GRCm39)	Y40C	probably damaging	Het
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Arfgef3	G	A	10: 18,528,454 (GRCm39)	A311V	probably damaging	Het
Cass4	A	G	2: 172,269,220 (GRCm39)	D434G	probably damaging	Het
Cep250	A	C	2: 155,840,211 (GRCm39)	T2390P	possibly damaging	Het
Cpm	C	A	10: 117,495,680 (GRCm39)	N56K	probably benign	Het
Cspp1	T	C	1: 10,156,156 (GRCm39)	L455P	probably damaging	Het
Dcx	T	C	X: 142,714,150 (GRCm39)	K51E	possibly damaging	Het
Ehd3	T	C	17: 74,135,089 (GRCm39)	F322L	probably benign	Het
Ell	A	G	8: 71,031,563 (GRCm39)	D87G	probably damaging	Het
Epor	C	T	9: 21,870,735 (GRCm39)		probably null	Het
Exosc10	T	G	4: 148,649,728 (GRCm39)	M386R	probably damaging	Het
Gpr152	T	C	19: 4,193,626 (GRCm39)	I389T	probably benign	Het
Gvin3	T	A	7: 106,201,242 (GRCm39)	E667D	probably benign	Het
Kmo	T	A	1: 175,482,661 (GRCm39)	D328E	possibly damaging	Het
Llgl1	A	G	11: 60,597,316 (GRCm39)	H255R	probably damaging	Het
Lrch3	T	A	16: 32,799,911 (GRCm39)	H416Q	probably damaging	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Mdm1	T	G	10: 117,993,156 (GRCm39)	H320Q	probably damaging	Het
Nol4	T	A	18: 22,956,555 (GRCm39)	H209L	probably damaging	Het
Or5p58	A	T	7: 107,694,046 (GRCm39)	C244S	probably damaging	Het
Pcdhac2	T	C	18: 37,279,339 (GRCm39)	V773A	possibly damaging	Het
Pde3a	A	G	6: 141,404,954 (GRCm39)	N393S	probably benign	Het
Pik3r5	A	G	11: 68,385,373 (GRCm39)	K700R	probably benign	Het
Prob1	G	A	18: 35,786,386 (GRCm39)	R623C	possibly damaging	Het
Slc14a2	T	C	18: 78,235,428 (GRCm39)	N112D	probably damaging	Het
Snapc3	C	T	4: 83,368,414 (GRCm39)	P304S	probably damaging	Het
Tmem131l	T	C	3: 83,829,429 (GRCm39)	E1075G	probably damaging	Het
Trip12	C	T	1: 84,729,699 (GRCm39)	R995Q	probably damaging	Het
Trpm6	T	A	19: 18,803,158 (GRCm39)	L867*	probably null	Het
Vmn1r87	T	G	7: 12,866,230 (GRCm39)	H19P	probably damaging	Het
Vps16	A	G	2: 130,280,273 (GRCm39)	E139G	possibly damaging	Het

Other mutations in Spin2c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2237:Spin2c	UTSW	X	152,616,672 (GRCm39)	missense	probably damaging	0.99
R2238:Spin2c	UTSW	X	152,616,672 (GRCm39)	missense	probably damaging	0.99
R2239:Spin2c	UTSW	X	152,616,672 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-11-05