Mutagenetix > Incidental Mutation

Incidental Mutation 'R5701:AW551984'

450892

Institutional Source

Beutler Lab

Gene Symbol

AW551984

Ensembl Gene

ENSMUSG00000038112

Gene Name

expressed sequence AW551984

Synonyms

MMRRC Submission

043181-MU

Accession Numbers

Essential gene?

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

Stock #

R5701 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39498692-39515699 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 39504118 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 616 (A616V)

Ref Sequence

ENSEMBL: ENSMUSP00000113212 (fasta)

Gene Model

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

AlphaFold

Q8BGF0

Predicted Effect

probably benign
Transcript: ENSMUST00000042485
AA Change: A616V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000042582
Gene: ENSMUSG00000038112
AA Change: A616V

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: ENSMUST00000119722
AA Change: A616V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000113212
Gene: ENSMUSG00000038112
AA Change: A616V

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: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armc8	A	G	9: 99,378,202 (GRCm39)		probably null	Het
Asxl1	A	G	2: 153,241,409 (GRCm39)	E653G	probably damaging	Het
Birc6	T	C	17: 75,004,420 (GRCm39)	M4763T	possibly damaging	Het
Bltp1	T	A	3: 36,975,509 (GRCm39)	M727K	probably benign	Het
Cand2	T	G	6: 115,774,893 (GRCm39)	F1034V	probably damaging	Het
Ccdc80	T	C	16: 44,936,741 (GRCm39)	V722A	possibly damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Chrnd	G	A	1: 87,125,380 (GRCm39)	V340I	possibly damaging	Het
Clip1	T	C	5: 123,751,366 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 47,513,617 (GRCm39)	E1920G	probably damaging	Het
Csmd3	A	T	15: 48,403,729 (GRCm39)	F194I	probably damaging	Het
D930048N14Rik	T	A	11: 51,544,556 (GRCm39)		probably null	Het
Defa28	T	C	8: 22,073,863 (GRCm39)	Y89H	probably benign	Het
Dnah1	C	T	14: 30,996,001 (GRCm39)	G2705E	probably damaging	Het
Eci2	A	T	13: 35,174,250 (GRCm39)	S104T	possibly damaging	Het
Ep300	T	C	15: 81,485,696 (GRCm39)	S228P	unknown	Het
Gabrb2	T	A	11: 42,378,201 (GRCm39)	M139K	probably damaging	Het
Gbp4	T	A	5: 105,266,265 (GRCm39)	N592I	possibly damaging	Het
Gpr158	C	T	2: 21,751,520 (GRCm39)	R480C	probably damaging	Het
Gps1	A	G	11: 120,676,008 (GRCm39)	D71G	probably benign	Het
Hoxc9	T	C	15: 102,890,313 (GRCm39)	Y77H	possibly damaging	Het
Il9r	T	A	11: 32,143,263 (GRCm39)	Y231F	probably benign	Het
Klhl1	A	G	14: 96,438,816 (GRCm39)	M494T	probably benign	Het
Kmt2c	A	G	5: 25,519,015 (GRCm39)	V2365A	probably benign	Het
Kri1	T	A	9: 21,192,425 (GRCm39)	K241M	possibly damaging	Het
Macf1	A	T	4: 123,397,018 (GRCm39)	C928S	probably damaging	Het
Mcm2	T	C	6: 88,870,073 (GRCm39)	D32G	probably damaging	Het
Mex3d	T	C	10: 80,217,379 (GRCm39)	T613A	probably benign	Het
Mptx2	G	A	1: 173,102,414 (GRCm39)	L92F	probably benign	Het
Myh9	T	C	15: 77,675,964 (GRCm39)	I241V	probably benign	Het
Myo6	C	T	9: 80,165,809 (GRCm39)	T398I	probably damaging	Het
Nckap1l	G	A	15: 103,381,195 (GRCm39)	A366T	probably benign	Het
Or5m11	A	G	2: 85,782,168 (GRCm39)	T254A	possibly damaging	Het
Plscr5	A	T	9: 92,087,564 (GRCm39)	K178*	probably null	Het
Rapgef6	T	C	11: 54,567,220 (GRCm39)	W857R	possibly damaging	Het
Raxos1	G	A	18: 66,071,059 (GRCm39)		probably benign	Het
Rnf145	G	A	11: 44,422,120 (GRCm39)	V68M	possibly damaging	Het
Slc66a2	T	A	18: 80,315,693 (GRCm39)	D118E	possibly damaging	Het
Synpo2	C	G	3: 122,873,879 (GRCm39)	G1029A	probably damaging	Het
Tbc1d5	TTGCTGCTGCTGCTGCTGCTGGTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGGTGCTGCTGCTGCTG	17: 51,106,983 (GRCm39)		probably benign	Het
Vmn2r14	T	C	5: 109,367,816 (GRCm39)	Y392C	probably damaging	Het
Vmn2r55	A	G	7: 12,404,492 (GRCm39)	F304L	probably benign	Het
Zfp316	C	T	5: 143,240,132 (GRCm39)	G629D	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
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
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'- TCCTTGGAAGAGGAAAGTTTAAGAC -3'
(R):5'- AAAGGCATGCAGGTTGGTTTTC -3'

Sequencing Primer
(F):5'- AGACTAGTCATAAATCCTGTATGTGG -3'
(R):5'- TTGCTGCAAAGTCCATGATCCAG -3'

Posted On

2017-01-03