Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03403:AU041133'

421483

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

AU041133

Ensembl Gene

ENSMUSG00000078435

Gene Name

expressed sequence AU041133

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL03403

Quality Score

Status

Chromosome

Chromosomal Location

82128013-82153065 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82138344 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 31 (V31A)

Ref Sequence

ENSEMBL: ENSMUSP00000100951 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105314] [ENSMUST00000201286]

AlphaFold

A0A0J9YVH3

Predicted Effect

probably damaging
Transcript: ENSMUST00000105314
AA Change: V31A

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

SMART Domains

Protein: ENSMUSP00000100951
Gene: ENSMUSG00000078435
AA Change: V31A

Domain	Start	End	E-Value	Type
KRAB	3	65	1.77e-15	SMART
ZnF_C2H2	105	127	1.16e-1	SMART
ZnF_C2H2	133	155	3.26e-5	SMART
ZnF_C2H2	161	183	1.26e-2	SMART
ZnF_C2H2	189	211	7.37e-4	SMART
ZnF_C2H2	217	239	3.39e-3	SMART
ZnF_C2H2	245	267	1.26e-2	SMART
ZnF_C2H2	273	295	4.79e-3	SMART
ZnF_C2H2	301	323	6.99e-5	SMART
ZnF_C2H2	329	351	5.9e-3	SMART
ZnF_C2H2	357	379	1.03e-2	SMART
ZnF_C2H2	385	407	6.42e-4	SMART
ZnF_C2H2	413	435	8.94e-3	SMART
ZnF_C2H2	441	463	1.6e-4	SMART
ZnF_C2H2	469	491	5.99e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000201286
AA Change: V32A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000144661
Gene: ENSMUSG00000078435
AA Change: V32A

Domain	Start	End	E-Value	Type
KRAB	4	66	7.7e-18	SMART
ZnF_C2H2	106	128	5e-4	SMART
ZnF_C2H2	134	156	1.4e-7	SMART
ZnF_C2H2	162	184	5.3e-5	SMART
ZnF_C2H2	190	212	3.2e-6	SMART
ZnF_C2H2	218	240	1.4e-5	SMART
ZnF_C2H2	246	268	5.3e-5	SMART
ZnF_C2H2	274	296	2e-5	SMART
ZnF_C2H2	302	324	3.1e-7	SMART
ZnF_C2H2	330	352	2.6e-5	SMART
ZnF_C2H2	358	380	4.5e-5	SMART
ZnF_C2H2	386	408	2.8e-6	SMART
ZnF_C2H2	414	436	3.9e-5	SMART
ZnF_C2H2	442	464	7e-7	SMART
ZnF_C2H2	470	492	2.5e-6	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	C	15: 8,201,342	K1034N	probably damaging	Het
Adamts12	T	A	15: 11,241,488	I382N	probably damaging	Het
Adamts5	T	C	16: 85,863,014	T797A	probably damaging	Het
Ahr	A	T	12: 35,504,326	V598E	possibly damaging	Het
Akap10	A	G	11: 61,915,273	S210P	probably benign	Het
Asb5	G	T	8: 54,583,547		probably benign	Het
Bcar3	T	C	3: 122,512,969	V197A	probably benign	Het
Bptf	A	G	11: 107,099,733	V510A	possibly damaging	Het
Ccar2	A	T	14: 70,140,068	D712E	probably damaging	Het
Cenpt	G	A	8: 105,849,665	Q85*	probably null	Het
Ciita	C	A	16: 10,503,872	H98N	probably damaging	Het
Csn1s1	T	A	5: 87,667,293	M16K	probably benign	Het
Fah	A	G	7: 84,593,209	I297T	probably damaging	Het
Fbxo25	A	G	8: 13,929,423	N214D	probably benign	Het
Frem3	A	C	8: 80,611,090	D4A	probably benign	Het
Gm12800	T	C	4: 101,909,928	S125P	probably benign	Het
Gm3409	A	G	5: 146,539,524	K162E	probably benign	Het
Gxylt1	T	C	15: 93,261,775	D148G	possibly damaging	Het
Hoxd4	A	T	2: 74,728,337	E168V	possibly damaging	Het
Ifna6	A	G	4: 88,827,458	S15G	possibly damaging	Het
Iqck	T	A	7: 118,876,271	H97Q	probably benign	Het
Kif16b	T	A	2: 142,711,869	E1003V	probably damaging	Het
Lrp1b	G	A	2: 40,702,824	P3761L	probably benign	Het
Mc4r	C	T	18: 66,859,526	C172Y	possibly damaging	Het
Olfr373	A	G	8: 72,100,497	T246A	probably benign	Het
Oosp1	T	A	19: 11,687,380	N104I	probably damaging	Het
Pram1	A	T	17: 33,642,143	I513F	probably damaging	Het
Rasef	A	G	4: 73,734,534	S577P	probably damaging	Het
Rfx8	T	C	1: 39,690,173	D144G	possibly damaging	Het
Rreb1	A	C	13: 37,929,574	N303T	possibly damaging	Het
Rrn3	A	T	16: 13,799,945	K351*	probably null	Het
Sox30	A	T	11: 46,017,208	E734V	probably damaging	Het
Spns1	C	T	7: 126,371,536		probably null	Het
Tgfbr2	T	A	9: 116,110,302	E177D	probably benign	Het
Tnfaip8l3	A	G	9: 54,027,457	M78T	possibly damaging	Het
Vmn2r92	C	T	17: 18,166,852	T151I	probably damaging	Het
Wwc1	A	G	11: 35,915,284	Y41H	possibly damaging	Het
Zfp407	A	T	18: 84,560,797	N730K	probably damaging	Het

Other mutations in AU041133

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0755:AU041133	UTSW	10	82150890	nonsense	probably null
R1924:AU041133	UTSW	10	82151267	nonsense	probably null
R2211:AU041133	UTSW	10	82150921	missense	probably damaging	1.00
R2400:AU041133	UTSW	10	82150908	nonsense	probably null
R3845:AU041133	UTSW	10	82151318	missense	probably damaging	1.00
R3914:AU041133	UTSW	10	82151815	missense	probably damaging	0.99
R4214:AU041133	UTSW	10	82151389	missense	probably damaging	1.00
R4414:AU041133	UTSW	10	82151482	missense	probably damaging	1.00
R5315:AU041133	UTSW	10	82151672	nonsense	probably null
R5835:AU041133	UTSW	10	82151212	missense	probably damaging	1.00
R6258:AU041133	UTSW	10	82151158	missense	probably damaging	1.00
R6877:AU041133	UTSW	10	82151571	missense	probably benign	0.24
R7127:AU041133	UTSW	10	82150866	missense	probably benign	0.14
R7200:AU041133	UTSW	10	82151101	missense	possibly damaging	0.94
R7228:AU041133	UTSW	10	82151271	missense	possibly damaging	0.93
R7828:AU041133	UTSW	10	82151220	missense	probably damaging	1.00
R8198:AU041133	UTSW	10	82151415	missense	probably damaging	1.00
R9253:AU041133	UTSW	10	82151386	missense	probably benign	0.01

Posted On

2016-08-02