Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02647:AF366264'

301974

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

AF366264

Ensembl Gene

ENSMUSG00000057116

Gene Name

cDNA sequence AF366264

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.489) question?

Stock #

IGL02647

Quality Score

Status

Chromosome

Chromosomal Location

13835233-13838389 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13836979 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 371 (T371A)

Ref Sequence

ENSEMBL: ENSMUSP00000096518 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071308]

AlphaFold

G3X9P9

Predicted Effect

probably damaging
Transcript: ENSMUST00000071308
AA Change: T371A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096518
Gene: ENSMUSG00000057116
AA Change: T371A

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C48	322	501	1.9e-45	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	A	T	14: 29,990,890	R497W	probably damaging	Het
Als2cr12	T	C	1: 58,670,454	T181A	probably benign	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Bmx	T	C	X: 164,205,235	E495G	probably damaging	Het
Cbx5	T	C	15: 103,200,903		probably null	Het
Cenpj	C	T	14: 56,530,079	V1203M	probably damaging	Het
Ces1b	T	C	8: 93,057,044	H516R	probably benign	Het
D430041D05Rik	T	C	2: 104,248,266	N1235S	probably damaging	Het
Depdc1a	A	T	3: 159,522,866	K418N	probably damaging	Het
Dysf	G	A	6: 84,137,373	V1215M	probably damaging	Het
Foxf2	A	T	13: 31,627,235	N386Y	probably damaging	Het
Frem1	A	T	4: 83,001,754	V455E	probably damaging	Het
Fzd7	C	A	1: 59,484,395	P479Q	probably damaging	Het
Hnmt	G	A	2: 24,014,307	S114F	possibly damaging	Het
Irf3	A	G	7: 45,000,376	N6S	probably benign	Het
Krt26	C	T	11: 99,333,645	R349Q	probably benign	Het
Lrba	A	G	3: 86,359,731	D1576G	probably benign	Het
Lsg1	A	T	16: 30,585,552		probably null	Het
Mal2	T	C	15: 54,588,437	F85L	probably damaging	Het
Me2	A	C	18: 73,797,903	S106R	probably benign	Het
Med21	T	C	6: 146,649,233	S81P	probably benign	Het
Mos	T	C	4: 3,870,961	Y285C	probably damaging	Het
Mtmr1	A	G	X: 71,393,333	N256S	probably damaging	Het
Olfr868	T	A	9: 20,101,209	M150K	probably benign	Het
Prl3d2	A	C	13: 27,126,016	T155P	probably benign	Het
R3hdm2	C	T	10: 127,459,484	S240L	probably damaging	Het
Skint6	A	T	4: 113,127,891		probably benign	Het
Ubr5	A	G	15: 37,992,082	S1933P	probably damaging	Het
Veph1	A	T	3: 66,159,448		probably benign	Het
Xpo7	A	G	14: 70,685,465	F557S	probably damaging	Het
Zfp647	T	C	15: 76,917,715	E30G	probably damaging	Het
Zfp655	A	T	5: 145,243,006	I75L	probably benign	Het
Zfp981	C	A	4: 146,537,252	Y211*	probably null	Het

Other mutations in AF366264

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02291:AF366264	APN	8	13837704	missense	probably benign	0.03
IGL03118:AF366264	APN	8	13838096	utr 5 prime	probably benign
FR4342:AF366264	UTSW	8	13837613	missense	probably benign	0.00
R0636:AF366264	UTSW	8	13837870	missense	probably benign	0.00
R1796:AF366264	UTSW	8	13836816	nonsense	probably null
R1913:AF366264	UTSW	8	13837143	missense	probably benign	0.16
R2353:AF366264	UTSW	8	13836951	missense	probably damaging	1.00
R2944:AF366264	UTSW	8	13837212	missense	probably damaging	1.00
R3714:AF366264	UTSW	8	13836736	missense	probably benign	0.04
R4222:AF366264	UTSW	8	13838061	missense	probably benign
R4628:AF366264	UTSW	8	13836625	missense	probably damaging	1.00
R4801:AF366264	UTSW	8	13836970	missense	possibly damaging	0.93
R4802:AF366264	UTSW	8	13836970	missense	possibly damaging	0.93
R4836:AF366264	UTSW	8	13838007	missense	probably benign
R5143:AF366264	UTSW	8	13836844	missense	possibly damaging	0.87
R5637:AF366264	UTSW	8	13837713	missense	possibly damaging	0.46
R5930:AF366264	UTSW	8	13837263	missense	probably benign	0.06
R6540:AF366264	UTSW	8	13837573	missense	probably benign	0.07
R6556:AF366264	UTSW	8	13837690	nonsense	probably null
R6724:AF366264	UTSW	8	13837083	missense	probably damaging	1.00
R7131:AF366264	UTSW	8	13836982	missense	probably damaging	0.98
R7148:AF366264	UTSW	8	13837996	missense	probably benign	0.01
R7660:AF366264	UTSW	8	13837995	missense	probably benign	0.06
R8198:AF366264	UTSW	8	13837056	missense	probably benign	0.11
R8483:AF366264	UTSW	8	13838229	start gained	probably benign
R9090:AF366264	UTSW	8	13836697	missense	possibly damaging	0.53
R9271:AF366264	UTSW	8	13836697	missense	possibly damaging	0.53
X0020:AF366264	UTSW	8	13836847	nonsense	probably null

Posted On

2015-04-16