Mutagenetix > Incidental Mutation

Incidental Mutation 'R6670:AW551984'

527099

Institutional Source

Beutler Lab

Gene Symbol

AW551984

Ensembl Gene

ENSMUSG00000038112

Gene Name

expressed sequence AW551984

Synonyms

MMRRC Submission

044790-MU

Accession Numbers

Essential gene?

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

Stock #

R6670 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39498692-39515699 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39504292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 558 (D558G)

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: D558G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000042582
Gene: ENSMUSG00000038112
AA Change: D558G

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: D558G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113212
Gene: ENSMUSG00000038112
AA Change: D558G

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

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

100% (38/38)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	G	19: 43,827,850 (GRCm39)	1544	probably benign	Het
Acsm3	T	A	7: 119,379,978 (GRCm39)		probably null	Het
Bcl9l	GTGAACATGAACATGAACATGAAC	GTGAACATGAACATGAACATGAACATGAAC	9: 44,418,369 (GRCm39)		probably benign	Het
Brd8dc	A	G	18: 34,719,319 (GRCm39)	V167A	possibly damaging	Het
Ccdc12	T	G	9: 110,537,595 (GRCm39)		probably null	Het
Ctsl	T	C	13: 64,511,916 (GRCm39)		probably null	Het
Cul1	T	A	6: 47,494,068 (GRCm39)	D460E	probably damaging	Het
Dnttip2	T	A	3: 122,069,870 (GRCm39)	S362T	probably damaging	Het
Fbxw16	T	A	9: 109,267,280 (GRCm39)	D317V	probably damaging	Het
Fbxw9	T	A	8: 85,788,839 (GRCm39)	N196K	possibly damaging	Het
Grap	A	G	11: 61,551,064 (GRCm39)	D32G	probably damaging	Het
Hhatl	T	C	9: 121,618,137 (GRCm39)	D206G	probably damaging	Het
Hrnr	A	T	3: 93,239,192 (GRCm39)	Q3143H	unknown	Het
Ighv1-62-1	T	C	12: 115,350,529 (GRCm39)	Y46C	probably damaging	Het
Krtap16-3	A	T	16: 88,759,540 (GRCm39)	Y58N	unknown	Het
Mef2c	A	G	13: 83,810,716 (GRCm39)	K384R	probably damaging	Het
Nalcn	A	G	14: 123,702,084 (GRCm39)	Y476H	possibly damaging	Het
Oxgr1	A	T	14: 120,259,669 (GRCm39)	N179K	probably damaging	Het
Polk	G	A	13: 96,633,138 (GRCm39)	Q302*	probably null	Het
Rab3gap1	T	A	1: 127,858,512 (GRCm39)	S540R	probably benign	Het
Samd5	A	T	10: 9,504,808 (GRCm39)		probably null	Het
Sema6d	GTGATAC	G	2: 124,496,762 (GRCm39)		probably benign	Het
Slc1a6	C	A	10: 78,623,646 (GRCm39)	A15D	probably benign	Het
Slc8a1	A	G	17: 81,956,883 (GRCm39)	C52R	probably damaging	Het
Sod2	T	A	17: 13,227,252 (GRCm39)	Y69N	possibly damaging	Het
Tank	T	C	2: 61,474,768 (GRCm39)		probably null	Het
Tbc1d23	A	T	16: 57,034,580 (GRCm39)	I73N	probably benign	Het
Tnf	A	C	17: 35,420,800 (GRCm39)	M6R	possibly damaging	Het
Trmt2a	C	T	16: 18,068,341 (GRCm39)	A16V	possibly damaging	Het
Ttn	A	G	2: 76,556,055 (GRCm39)	Y21990H	probably damaging	Het
Uaca	C	T	9: 60,779,306 (GRCm39)	S1231L	probably benign	Het
Ubr1	A	G	2: 120,754,611 (GRCm39)		probably null	Het
Unc13b	A	G	4: 43,255,562 (GRCm39)	D3849G	probably damaging	Het
Vmn2r75	T	A	7: 85,797,644 (GRCm39)	D723V	probably damaging	Het
Wnt2	C	A	6: 18,028,091 (GRCm39)	V48L	possibly damaging	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
R5041:AW551984	UTSW	9	39,511,894 (GRCm39)	missense	probably damaging	1.00
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
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'- CCAAGAGAATAGGCCTTGGG -3'
(R):5'- TGAACAGAATTGTGTCCCCAC -3'

Sequencing Primer
(F):5'- CCAAGAGAATAGGCCTTGGGATATCC -3'
(R):5'- GCTCACTCACCTATTGCCCAG -3'

Posted On

2018-07-23