Mutagenetix > Incidental Mutations

Incidental Mutation 'R8402:AW551984'

652239

Institutional Source

Beutler Lab

Gene Symbol

AW551984

Ensembl Gene

ENSMUSG00000038112

Gene Name

expressed sequence AW551984

Synonyms

MMRRC Submission

Accession Numbers

Genbank: NM_178737; MGI: 2143322

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R8402 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39587396-39604403 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39597653 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 325 (Y325C)

Ref Sequence

ENSEMBL: ENSMUSP00000042582 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042485] [ENSMUST00000119722] [ENSMUST00000130829] [ENSMUST00000141370]

AlphaFold

Q8BGF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000042485
AA Change: Y325C

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

SMART Domains

Protein: ENSMUSP00000042582
Gene: ENSMUSG00000038112
AA Change: Y325C

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: Y325C

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

SMART Domains

Protein: ENSMUSP00000113212
Gene: ENSMUSG00000038112
AA Change: Y325C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000130829

SMART Domains

Protein: ENSMUSP00000117262
Gene: ENSMUSG00000038112

Domain	Start	End	E-Value	Type
Pfam:VIT_2	5	52	1.4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141370

SMART Domains

Protein: ENSMUSP00000117328
Gene: ENSMUSG00000038112

Domain	Start	End	E-Value	Type
VIT	1	131	1.59e-47	SMART

Meta Mutation Damage Score

0.7158

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	T	A	6: 129,323,044	D157V	possibly damaging	Het
Adamts12	A	T	15: 11,263,290	K579N	probably damaging	Het
Adcy7	T	C	8: 88,308,735	V89A	probably benign	Het
Anapc1	G	A	2: 128,630,228	S1458L	probably benign	Het
Btnl4	T	C	17: 34,469,493	Y437C	probably damaging	Het
Ccdc88a	T	A	11: 29,463,879	S806T	probably damaging	Het
Ddit4l	A	G	3: 137,626,127	T85A	probably damaging	Het
Dmxl1	G	A	18: 49,878,326	W1183*	probably null	Het
Dmxl1	G	C	18: 49,878,327	D1184H	probably benign	Het
Dmxl1	G	T	18: 49,878,342	V1189L	probably benign	Het
Evpl	T	C	11: 116,225,371	D820G	probably benign	Het
Fam76b	T	C	9: 13,839,676	S289P	probably damaging	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Gabrb2	T	C	11: 42,487,304	W116R	probably damaging	Het
Galnt7	G	A	8: 57,542,919	A355V	probably damaging	Het
Klk1b5	T	G	7: 44,218,538	F45V	probably benign	Het
Nav2	T	C	7: 49,453,437	V661A	probably benign	Het
Nfkbiz	T	C	16: 55,816,387	N517S	probably damaging	Het
Olfr1330	A	G	4: 118,893,519	I145M	probably benign	Het
Olfr975	T	A	9: 39,950,417	Y118F	probably benign	Het
P2rx1	T	C	11: 73,013,889	F368L	probably damaging	Het
Palld	A	T	8: 61,711,406	V417E	probably damaging	Het
Robo1	C	A	16: 73,024,497	A1375E	probably benign	Het
Rps24	G	T	14: 24,490,761		probably benign	Het
Serpind1	A	G	16: 17,337,085	N259D	probably benign	Het
Sh3bp4	C	A	1: 89,145,315	N628K	probably benign	Het
Tada3	A	T	6: 113,374,813	L177Q	probably damaging	Het
Tcam1	T	A	11: 106,286,905	L508Q	probably damaging	Het
Thbs1	T	C	2: 118,115,878	S360P	possibly damaging	Het
Tmem33	T	C	5: 67,267,375		probably benign	Het
Vmn2r3	A	G	3: 64,271,196		probably benign	Het
Vwa3b	A	G	1: 37,165,798	E121G	probably damaging	Het
Zfp607b	T	A	7: 27,702,702	H194Q	probably damaging	Het
Zfp729b	G	A	13: 67,592,577	P523L	probably 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
IGL02102:AW551984	APN	9	39589691	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- GGTCAGCTTTACACCTACCC -3'
(R):5'- CTTGGGGTTTCCTTAGAGTACAAG -3'

Sequencing Primer
(F):5'- TGTGTGATAGCTACCTGTGAAAG -3'
(R):5'- GATGGAATAAAGTAGTGTGACAGACC -3'

Posted On

2020-10-20