Mutagenetix > Incidental Mutation

Incidental Mutation 'R3119:AW551984'

263151

Institutional Source

Beutler Lab

Gene Symbol

AW551984

Ensembl Gene

ENSMUSG00000038112

Gene Name

expressed sequence AW551984

Synonyms

MMRRC Submission

040592-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R3119 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39498692-39515699 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39504656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 532 (T532A)

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: T532A

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000042582
Gene: ENSMUSG00000038112
AA Change: T532A

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: T532A

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000113212
Gene: ENSMUSG00000038112
AA Change: T532A

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: 98.6%
10x: 97.2%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp1a4	A	G	1: 172,067,393 (GRCm39)	F580L	probably damaging	Het
Cstf1	A	G	2: 172,214,990 (GRCm39)	E37G	possibly damaging	Het
Cubn	A	C	2: 13,362,973 (GRCm39)	F1679L	possibly damaging	Het
Dqx1	C	A	6: 83,043,216 (GRCm39)	S651*	probably null	Het
Fhad1	CG	C	4: 141,645,618 (GRCm39)		probably null	Het
Gata3	T	C	2: 9,882,396 (GRCm39)		probably null	Het
L3mbtl4	G	A	17: 68,732,669 (GRCm39)	E50K	probably benign	Het
Man1a	T	A	10: 53,906,890 (GRCm39)	M295L	probably damaging	Het
Mbip	A	G	12: 56,392,488 (GRCm39)	V33A	probably benign	Het
Mrpl9	A	T	3: 94,355,097 (GRCm39)	N223I	probably damaging	Het
Nrxn1	G	A	17: 90,904,947 (GRCm39)	Q219*	probably null	Het
Or8g51	T	A	9: 38,608,955 (GRCm39)	K236*	probably null	Het
Prss12	A	T	3: 123,298,976 (GRCm39)	T583S	possibly damaging	Het
Rgs10	T	C	7: 128,004,955 (GRCm39)	E65G	probably damaging	Het
Spata31e3	A	T	13: 50,401,005 (GRCm39)	Y440*	probably null	Het
Syne2	T	A	12: 75,956,058 (GRCm39)	M588K	probably benign	Het
Tmem135	A	G	7: 88,797,005 (GRCm39)	S364P	probably benign	Het
Ttc41	T	C	10: 86,560,184 (GRCm39)	M369T	possibly damaging	Het
Vwa3b	G	A	1: 37,148,158 (GRCm39)	V437I	possibly damaging	Het
Zfp418	A	G	7: 7,184,688 (GRCm39)	H217R	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
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
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'- GCATGCCTTTTCATTGGACC -3'
(R):5'- CCTGAACACATGGCTTCTGG -3'

Sequencing Primer
(F):5'- GCCTTTTCATTGGACCCTATAAAAGC -3'
(R):5'- ACACATGGCTTCTGGATAGATAG -3'

Posted On

2015-02-05