Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02102:AW551984'

279804

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

AW551984

Ensembl Gene

ENSMUSG00000038112

Gene Name

expressed sequence AW551984

Synonyms

Accession Numbers

Genbank: NM_178737; MGI: 2143322

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

IGL02102

Quality Score

Status

Chromosome

Chromosomal Location

39587396-39604403 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 39589691 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 763 (W763R)

Ref Sequence

ENSEMBL: ENSMUSP00000113212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042485] [ENSMUST00000119722]

AlphaFold

Q8BGF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000042485
AA Change: W763R

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

SMART Domains

Protein: ENSMUSP00000042582
Gene: ENSMUSG00000038112
AA Change: W763R

Domain	Start	End	E-Value	Type
VIT	1	131	1.59e-47	SMART
VWA	279	460	1.04e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000119722
AA Change: W763R

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

SMART Domains

Protein: ENSMUSP00000113212
Gene: ENSMUSG00000038112
AA Change: W763R

Domain	Start	End	E-Value	Type
VIT	1	131	1.59e-47	SMART
VWA	279	460	1.04e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147753

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,777,439	T1338A	probably benign	Het
Adcy3	G	A	12: 4,134,699	C125Y	probably damaging	Het
Aoc1	A	T	6: 48,905,962	K257N	probably damaging	Het
Apob	T	C	12: 7,989,407	V497A	possibly damaging	Het
Atp8b5	T	A	4: 43,364,167	V684D	probably benign	Het
Blm	G	A	7: 80,469,756	T1026M	probably damaging	Het
Cd160	A	G	3: 96,805,570	I126T	possibly damaging	Het
Cdk14	T	C	5: 5,380,083	K15E	probably benign	Het
Cnot6l	T	C	5: 96,091,659	K261R	probably damaging	Het
Cyp3a13	T	G	5: 137,911,603	T153P	probably benign	Het
Ddx24	A	G	12: 103,408,484		probably benign	Het
Dido1	G	A	2: 180,662,247	T1288I	possibly damaging	Het
Dnajc13	A	G	9: 104,229,009	V322A	possibly damaging	Het
Dnajc25	T	A	4: 59,017,693	Y117*	probably null	Het
Dsg1a	A	G	18: 20,332,032	N427D	probably benign	Het
Gabrq	T	G	X: 72,827,545		probably null	Het
Glce	A	G	9: 62,070,601		probably benign	Het
Gm10477	T	C	X: 56,525,401	L45P	probably damaging	Het
Htt	T	A	5: 34,891,481		probably benign	Het
Ift140	A	G	17: 25,033,130	E317G	probably benign	Het
Jak1	A	G	4: 101,159,086	M827T	probably benign	Het
Kalrn	A	G	16: 34,220,222	V932A	probably damaging	Het
Mdm2	A	C	10: 117,692,717	S227R	possibly damaging	Het
Olfr1216	A	G	2: 89,013,126		probably benign	Het
Olfr153	T	C	2: 87,532,461	F143L	probably benign	Het
Olfr305	T	C	7: 86,363,866	Y157C	probably benign	Het
Olfr995	A	G	2: 85,438,267	V297A	probably damaging	Het
Olfr996	G	A	2: 85,579,673	V145I	probably damaging	Het
Pdilt	T	G	7: 119,486,950	E514A	probably benign	Het
Pepd	A	G	7: 34,945,603	D153G	probably damaging	Het
Ptgis	A	T	2: 167,225,447	V70E	probably damaging	Het
Rnf112	T	C	11: 61,452,015	K262E	probably benign	Het
Setd5	G	T	6: 113,150,985	G1300*	probably null	Het
Snx15	A	G	19: 6,122,074	L113P	possibly damaging	Het
Sptbn1	T	C	11: 30,137,427	D1004G	probably damaging	Het
Ston2	A	C	12: 91,639,724	*896G	probably null	Het
Suco	A	G	1: 161,827,705	S1073P	probably damaging	Het
Susd1	A	C	4: 59,369,636	D344E	possibly damaging	Het
Trnt1	G	T	6: 106,778,112		probably null	Het
Ttll12	A	G	15: 83,582,063	F399S	probably damaging	Het
Vmn1r124	C	T	7: 21,260,542	V26I	probably benign	Het
Vmn1r52	T	A	6: 90,179,207	N164K	possibly damaging	Het
Vmn1r56	A	T	7: 5,196,336	M94K	possibly damaging	Het
Vmn1r80	T	C	7: 12,193,691	F243L	probably damaging	Het
Zdhhc8	G	A	16: 18,225,199	S379F	possibly damaging	Het

Other mutations in AW551984

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:AW551984	APN	9	39592849	missense	probably benign	0.16
IGL00869:AW551984	APN	9	39593434	splice site	probably benign
IGL01411:AW551984	APN	9	39593791	missense	possibly damaging	0.69
IGL01744:AW551984	APN	9	39591272	missense	probably benign	0.01
IGL02149:AW551984	APN	9	39592924	missense	probably benign	0.06
IGL02151:AW551984	APN	9	39592945	missense	probably benign	0.35
IGL02154:AW551984	APN	9	39589102	missense	possibly damaging	0.93
IGL02158:AW551984	APN	9	39599325	missense	probably null	0.99
IGL02574:AW551984	APN	9	39589086	missense	possibly damaging	0.91
IGL02754:AW551984	APN	9	39596626	nonsense	probably null
IGL02754:AW551984	APN	9	39593328	critical splice donor site	probably null
IGL02838:AW551984	APN	9	39594643	missense	probably damaging	1.00
IGL03240:AW551984	APN	9	39589122	missense	probably benign	0.00
IGL03328:AW551984	APN	9	39597116	missense	probably damaging	1.00
IGL03374:AW551984	APN	9	39599766	missense	possibly damaging	0.52
PIT4260001:AW551984	UTSW	9	39592979	missense	probably benign	0.08
R0141:AW551984	UTSW	9	39590644	missense	probably damaging	1.00
R0269:AW551984	UTSW	9	39599950	missense	probably damaging	1.00
R0365:AW551984	UTSW	9	39599321	missense	probably benign	0.14
R0453:AW551984	UTSW	9	39600641	missense	probably damaging	1.00
R0481:AW551984	UTSW	9	39600616	missense	probably null	1.00
R1005:AW551984	UTSW	9	39593733	nonsense	probably null
R1585:AW551984	UTSW	9	39599336	nonsense	probably null
R2177:AW551984	UTSW	9	39599815	missense	probably benign
R3117:AW551984	UTSW	9	39593360	missense	probably benign	0.08
R3119:AW551984	UTSW	9	39593360	missense	probably benign	0.08
R3162:AW551984	UTSW	9	39593029	missense	probably damaging	1.00
R3162:AW551984	UTSW	9	39593029	missense	probably damaging	1.00
R3836:AW551984	UTSW	9	39597908	unclassified	probably benign
R3837:AW551984	UTSW	9	39597908	unclassified	probably benign
R3839:AW551984	UTSW	9	39597908	unclassified	probably benign
R4299:AW551984	UTSW	9	39592979	missense	probably benign	0.08
R4422:AW551984	UTSW	9	39600077	missense	probably null	0.00
R4713:AW551984	UTSW	9	39597153	missense	probably benign	0.13
R4905:AW551984	UTSW	9	39597158	missense	probably damaging	0.99
R4966:AW551984	UTSW	9	39597176	missense	possibly damaging	0.92
R5022:AW551984	UTSW	9	39597965	missense	probably benign	0.00
R5041:AW551984	UTSW	9	39600598	missense	probably damaging	1.00
R5342:AW551984	UTSW	9	39594551	missense	probably damaging	1.00
R5383:AW551984	UTSW	9	39590698	missense	probably benign
R5443:AW551984	UTSW	9	39598029	missense	possibly damaging	0.94
R5532:AW551984	UTSW	9	39597185	missense	probably damaging	1.00
R5536:AW551984	UTSW	9	39592873	missense	probably benign	0.04
R5586:AW551984	UTSW	9	39591263	missense	probably benign	0.01
R5601:AW551984	UTSW	9	39591267	missense	possibly damaging	0.87
R5618:AW551984	UTSW	9	39590704	missense	probably damaging	1.00
R5701:AW551984	UTSW	9	39592822	missense	probably benign	0.01
R6122:AW551984	UTSW	9	39593755	missense	probably benign	0.00
R6142:AW551984	UTSW	9	39597114	missense	probably benign	0.00
R6272:AW551984	UTSW	9	39598037	missense	probably benign	0.06
R6429:AW551984	UTSW	9	39600614	missense	probably damaging	1.00
R6659:AW551984	UTSW	9	39589099	missense	probably benign	0.00
R6670:AW551984	UTSW	9	39592996	missense	probably damaging	1.00
R6791:AW551984	UTSW	9	39600659	missense	probably damaging	1.00
R7000:AW551984	UTSW	9	39600789	missense	probably benign	0.11
R7077:AW551984	UTSW	9	39591427	missense	probably benign
R7083:AW551984	UTSW	9	39597647	missense	probably damaging	1.00
R7352:AW551984	UTSW	9	39592925	missense	probably benign
R7475:AW551984	UTSW	9	39597940	missense	probably damaging	1.00
R7534:AW551984	UTSW	9	39591481	missense	probably benign	0.03
R7542:AW551984	UTSW	9	39594631	missense	possibly damaging	0.95
R7708:AW551984	UTSW	9	39593755	missense	probably benign	0.00
R7729:AW551984	UTSW	9	39599775	missense	possibly damaging	0.89
R7955:AW551984	UTSW	9	39596664	missense	probably damaging	1.00
R8122:AW551984	UTSW	9	39599369	missense	probably damaging	1.00
R8358:AW551984	UTSW	9	39599355	missense	probably damaging	0.99
R8402:AW551984	UTSW	9	39597653	missense	probably damaging	1.00
R8683:AW551984	UTSW	9	39599709	missense	possibly damaging	0.86
R8810:AW551984	UTSW	9	39600011	missense	probably damaging	1.00
R8857:AW551984	UTSW	9	39600535	missense	probably damaging	1.00
R8871:AW551984	UTSW	9	39589702	nonsense	probably null
R9019:AW551984	UTSW	9	39597677	nonsense	probably null
Z1088:AW551984	UTSW	9	39590603	nonsense	probably null
ZE80:AW551984	UTSW	9	39593667	splice site	probably null

Posted On

2015-04-16