Mutagenetix > Incidental Mutation

Incidental Mutation 'R5041:AW551984'

393217

Institutional Source

Beutler Lab

Gene Symbol

AW551984

Ensembl Gene

ENSMUSG00000038112

Gene Name

expressed sequence AW551984

Synonyms

MMRRC Submission

042631-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R5041 (G1)

Quality Score

189

Status

Validated

Chromosome

Chromosomal Location

39498692-39515699 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39511894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 39 (Y39C)

Ref Sequence

ENSEMBL: ENSMUSP00000117262 (fasta)

Gene Model

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

AlphaFold

Q8BGF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000042485
AA Change: Y39C

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000042582
Gene: ENSMUSG00000038112
AA Change: Y39C

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: Y39C

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113212
Gene: ENSMUSG00000038112
AA Change: Y39C

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: ENSMUST00000130829
AA Change: Y39C

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

SMART Domains

Protein: ENSMUSP00000117262
Gene: ENSMUSG00000038112
AA Change: Y39C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136814

Predicted Effect

probably damaging
Transcript: ENSMUST00000141370
AA Change: Y39C

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117328
Gene: ENSMUSG00000038112
AA Change: Y39C

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

Meta Mutation Damage Score

0.8477

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg7	A	G	16: 56,550,711 (GRCm39)	F667S	probably benign	Het
Akna	A	G	4: 63,305,381 (GRCm39)	Y462H	possibly damaging	Het
Anxa11	G	T	14: 25,875,188 (GRCm39)	E278*	probably null	Het
Ap3s2	T	C	7: 79,570,267 (GRCm39)	Y20C	probably benign	Het
Atxn7	T	C	14: 14,096,317 (GRCm38)		probably null	Het
Becn1	A	T	11: 101,179,662 (GRCm39)	S442T	probably benign	Het
Bhlhe40	C	T	6: 108,639,546 (GRCm39)	T108I	probably damaging	Het
Cnst	A	G	1: 179,432,593 (GRCm39)	D252G	probably damaging	Het
Cpxm1	A	G	2: 130,235,990 (GRCm39)	S391P	probably damaging	Het
Ctnna2	T	A	6: 76,892,746 (GRCm39)	N814Y	probably damaging	Het
Ddx3y	T	A	Y: 1,266,611 (GRCm39)	Y282F	probably benign	Het
Ddx56	A	G	11: 6,214,178 (GRCm39)	V357A	probably damaging	Het
Frmpd1	T	G	4: 45,278,878 (GRCm39)	C534W	probably damaging	Het
Gimap8	A	G	6: 48,636,097 (GRCm39)	N621D	probably damaging	Het
Herc1	T	A	9: 66,336,327 (GRCm39)	I1624N	possibly damaging	Het
Htr7	A	C	19: 36,034,467 (GRCm39)	W63G	probably benign	Het
Ly6g6c	T	A	17: 35,284,428 (GRCm39)		probably null	Het
Macf1	T	C	4: 123,290,839 (GRCm39)		probably null	Het
Mfrp	A	G	9: 44,013,575 (GRCm39)	D62G	probably damaging	Het
Ncam1	T	C	9: 49,478,085 (GRCm39)	Y173C	probably damaging	Het
Nwd1	T	C	8: 73,431,683 (GRCm39)	V1185A	possibly damaging	Het
Or4c113	A	T	2: 88,885,265 (GRCm39)	C168*	probably null	Het
Or51h7	T	C	7: 102,591,785 (GRCm39)		probably null	Het
Pcf11	G	A	7: 92,307,613 (GRCm39)	P852S	probably benign	Het
Pramel25	T	C	4: 143,520,260 (GRCm39)	V4A	probably benign	Het
Ralgapa2	T	C	2: 146,327,071 (GRCm39)	I63V	probably benign	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,132 (GRCm39)		probably benign	Het
Rubcnl	T	C	14: 75,287,572 (GRCm39)	F619L	probably damaging	Het
Sec24d	A	T	3: 123,087,880 (GRCm39)	Q247L	probably damaging	Het
Spmap2l	A	G	5: 77,203,928 (GRCm39)	T319A	probably benign	Het
Spns3	G	T	11: 72,427,373 (GRCm39)	Q306K	possibly damaging	Het
Sstr1	T	C	12: 58,259,941 (GRCm39)	V188A	possibly damaging	Het
Supt5	A	T	7: 28,014,805 (GRCm39)	L1024Q	probably damaging	Het
Tent4b	CCCAACAACGCCAACAA	CCCAACAA	8: 88,981,878 (GRCm39)		probably benign	Het
Unc13b	T	A	4: 43,237,836 (GRCm39)	H3452Q	probably benign	Het
Usp28	A	G	9: 48,949,073 (GRCm39)	Q864R	probably benign	Het
Vmn2r43	T	C	7: 8,247,806 (GRCm39)	T786A	probably damaging	Het
Yy1	TCACCACCACCACCACCACCACCACCACC	TCACCACCACCACCACCACCACCACCACCACC	12: 108,759,557 (GRCm39)		probably benign	Het

Other mutations in AW551984

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:AW551984	APN	9	39,504,145 (GRCm39)	missense	probably benign	0.16
IGL00869:AW551984	APN	9	39,504,730 (GRCm39)	splice site	probably benign
IGL01411:AW551984	APN	9	39,505,087 (GRCm39)	missense	possibly damaging	0.69
IGL01744:AW551984	APN	9	39,502,568 (GRCm39)	missense	probably benign	0.01
IGL02102:AW551984	APN	9	39,500,987 (GRCm39)	missense	probably damaging	1.00
IGL02149:AW551984	APN	9	39,504,220 (GRCm39)	missense	probably benign	0.06
IGL02151:AW551984	APN	9	39,504,241 (GRCm39)	missense	probably benign	0.35
IGL02154:AW551984	APN	9	39,500,398 (GRCm39)	missense	possibly damaging	0.93
IGL02158:AW551984	APN	9	39,510,621 (GRCm39)	missense	probably null	0.99
IGL02574:AW551984	APN	9	39,500,382 (GRCm39)	missense	possibly damaging	0.91
IGL02754:AW551984	APN	9	39,504,624 (GRCm39)	critical splice donor site	probably null
IGL02754:AW551984	APN	9	39,507,922 (GRCm39)	nonsense	probably null
IGL02838:AW551984	APN	9	39,505,939 (GRCm39)	missense	probably damaging	1.00
IGL03240:AW551984	APN	9	39,500,418 (GRCm39)	missense	probably benign	0.00
IGL03328:AW551984	APN	9	39,508,412 (GRCm39)	missense	probably damaging	1.00
IGL03374:AW551984	APN	9	39,511,062 (GRCm39)	missense	possibly damaging	0.52
PIT4260001:AW551984	UTSW	9	39,504,275 (GRCm39)	missense	probably benign	0.08
R0141:AW551984	UTSW	9	39,501,940 (GRCm39)	missense	probably damaging	1.00
R0269:AW551984	UTSW	9	39,511,246 (GRCm39)	missense	probably damaging	1.00
R0365:AW551984	UTSW	9	39,510,617 (GRCm39)	missense	probably benign	0.14
R0453:AW551984	UTSW	9	39,511,937 (GRCm39)	missense	probably damaging	1.00
R0481:AW551984	UTSW	9	39,511,912 (GRCm39)	missense	probably null	1.00
R1005:AW551984	UTSW	9	39,505,029 (GRCm39)	nonsense	probably null
R1585:AW551984	UTSW	9	39,510,632 (GRCm39)	nonsense	probably null
R2177:AW551984	UTSW	9	39,511,111 (GRCm39)	missense	probably benign
R3117:AW551984	UTSW	9	39,504,656 (GRCm39)	missense	probably benign	0.08
R3119:AW551984	UTSW	9	39,504,656 (GRCm39)	missense	probably benign	0.08
R3162:AW551984	UTSW	9	39,504,325 (GRCm39)	missense	probably damaging	1.00
R3162:AW551984	UTSW	9	39,504,325 (GRCm39)	missense	probably damaging	1.00
R3836:AW551984	UTSW	9	39,509,204 (GRCm39)	unclassified	probably benign
R3837:AW551984	UTSW	9	39,509,204 (GRCm39)	unclassified	probably benign
R3839:AW551984	UTSW	9	39,509,204 (GRCm39)	unclassified	probably benign
R4299:AW551984	UTSW	9	39,504,275 (GRCm39)	missense	probably benign	0.08
R4422:AW551984	UTSW	9	39,511,373 (GRCm39)	missense	probably null	0.00
R4713:AW551984	UTSW	9	39,508,449 (GRCm39)	missense	probably benign	0.13
R4905:AW551984	UTSW	9	39,508,454 (GRCm39)	missense	probably damaging	0.99
R4966:AW551984	UTSW	9	39,508,472 (GRCm39)	missense	possibly damaging	0.92
R5022:AW551984	UTSW	9	39,509,261 (GRCm39)	missense	probably benign	0.00
R5342:AW551984	UTSW	9	39,505,847 (GRCm39)	missense	probably damaging	1.00
R5383:AW551984	UTSW	9	39,501,994 (GRCm39)	missense	probably benign
R5443:AW551984	UTSW	9	39,509,325 (GRCm39)	missense	possibly damaging	0.94
R5532:AW551984	UTSW	9	39,508,481 (GRCm39)	missense	probably damaging	1.00
R5536:AW551984	UTSW	9	39,504,169 (GRCm39)	missense	probably benign	0.04
R5586:AW551984	UTSW	9	39,502,559 (GRCm39)	missense	probably benign	0.01
R5601:AW551984	UTSW	9	39,502,563 (GRCm39)	missense	possibly damaging	0.87
R5618:AW551984	UTSW	9	39,502,000 (GRCm39)	missense	probably damaging	1.00
R5701:AW551984	UTSW	9	39,504,118 (GRCm39)	missense	probably benign	0.01
R6122:AW551984	UTSW	9	39,505,051 (GRCm39)	missense	probably benign	0.00
R6142:AW551984	UTSW	9	39,508,410 (GRCm39)	missense	probably benign	0.00
R6272:AW551984	UTSW	9	39,509,333 (GRCm39)	missense	probably benign	0.06
R6429:AW551984	UTSW	9	39,511,910 (GRCm39)	missense	probably damaging	1.00
R6659:AW551984	UTSW	9	39,500,395 (GRCm39)	missense	probably benign	0.00
R6670:AW551984	UTSW	9	39,504,292 (GRCm39)	missense	probably damaging	1.00
R6791:AW551984	UTSW	9	39,511,955 (GRCm39)	missense	probably damaging	1.00
R7000:AW551984	UTSW	9	39,512,085 (GRCm39)	missense	probably benign	0.11
R7077:AW551984	UTSW	9	39,502,723 (GRCm39)	missense	probably benign
R7083:AW551984	UTSW	9	39,508,943 (GRCm39)	missense	probably damaging	1.00
R7352:AW551984	UTSW	9	39,504,221 (GRCm39)	missense	probably benign
R7475:AW551984	UTSW	9	39,509,236 (GRCm39)	missense	probably damaging	1.00
R7534:AW551984	UTSW	9	39,502,777 (GRCm39)	missense	probably benign	0.03
R7542:AW551984	UTSW	9	39,505,927 (GRCm39)	missense	possibly damaging	0.95
R7708:AW551984	UTSW	9	39,505,051 (GRCm39)	missense	probably benign	0.00
R7729:AW551984	UTSW	9	39,511,071 (GRCm39)	missense	possibly damaging	0.89
R7955:AW551984	UTSW	9	39,507,960 (GRCm39)	missense	probably damaging	1.00
R8122:AW551984	UTSW	9	39,510,665 (GRCm39)	missense	probably damaging	1.00
R8358:AW551984	UTSW	9	39,510,651 (GRCm39)	missense	probably damaging	0.99
R8402:AW551984	UTSW	9	39,508,949 (GRCm39)	missense	probably damaging	1.00
R8683:AW551984	UTSW	9	39,511,005 (GRCm39)	missense	possibly damaging	0.86
R8810:AW551984	UTSW	9	39,511,307 (GRCm39)	missense	probably damaging	1.00
R8857:AW551984	UTSW	9	39,511,831 (GRCm39)	missense	probably damaging	1.00
R8871:AW551984	UTSW	9	39,500,998 (GRCm39)	nonsense	probably null
R9019:AW551984	UTSW	9	39,508,973 (GRCm39)	nonsense	probably null
Z1088:AW551984	UTSW	9	39,501,899 (GRCm39)	nonsense	probably null
ZE80:AW551984	UTSW	9	39,504,963 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- TGTCACTGGAGCAGCTACAC -3'
(R):5'- AGCCAAGACTCTTAGTGCTG -3'

Sequencing Primer
(F):5'- CTGTGGATGACAAATTATCTGCACCC -3'
(R):5'- AGCCAAGACTCTTAGTGCTGGATTC -3'

Posted On

2016-06-15