Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02154:AW551984'

282168

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

AW551984

Ensembl Gene

ENSMUSG00000038112

Gene Name

expressed sequence AW551984

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL02154

Quality Score

Status

Chromosome

Chromosomal Location

39498692-39515699 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 39500398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 787 (R787C)

Ref Sequence

ENSEMBL: ENSMUSP00000113212 (fasta)

Gene Model

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

AlphaFold

Q8BGF0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042485
AA Change: R787C

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000042582
Gene: ENSMUSG00000038112
AA Change: R787C

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119722
AA Change: R787C

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113212
Gene: ENSMUSG00000038112
AA Change: R787C

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armc3	G	A	2: 19,290,948 (GRCm39)		probably null	Het
Armh4	G	A	14: 50,010,399 (GRCm39)	T436I	possibly damaging	Het
Cadm1	A	T	9: 47,725,201 (GRCm39)	I321L	probably benign	Het
Cfap57	A	G	4: 118,470,214 (GRCm39)	L222P	probably damaging	Het
Cox20	A	G	1: 178,150,119 (GRCm39)	I98V	probably benign	Het
Dmrta1	A	G	4: 89,580,150 (GRCm39)	N370S	probably benign	Het
Dnah17	A	G	11: 118,015,087 (GRCm39)	F386L	probably benign	Het
Fam135b	T	C	15: 71,320,559 (GRCm39)	I1323V	probably benign	Het
Fndc3b	A	G	3: 27,592,266 (GRCm39)	S211P	probably damaging	Het
Galnt10	T	G	11: 57,675,531 (GRCm39)	L597V	probably damaging	Het
Gtf2e2	T	C	8: 34,245,989 (GRCm39)		probably null	Het
Inpp4b	T	A	8: 82,696,130 (GRCm39)		probably benign	Het
Irag2	T	G	6: 145,083,967 (GRCm39)	M44R	possibly damaging	Het
Lacc1	A	G	14: 77,270,727 (GRCm39)	V269A	probably benign	Het
Mdn1	A	G	4: 32,740,395 (GRCm39)	D3750G	probably benign	Het
Mme	A	T	3: 63,250,976 (GRCm39)	Q339L	probably benign	Het
Mmp3	A	T	9: 7,453,662 (GRCm39)	I428L	probably benign	Het
Myrf	A	T	19: 10,193,482 (GRCm39)	I558N	probably damaging	Het
Or52e8	C	T	7: 104,625,188 (GRCm39)	M1I	probably null	Het
Phb1	A	G	11: 95,565,997 (GRCm39)	I94V	possibly damaging	Het
Prg4	T	A	1: 150,330,613 (GRCm39)		probably benign	Het
Sirpb1a	T	C	3: 15,475,504 (GRCm39)	T344A	probably damaging	Het
Skap2	T	C	6: 51,989,308 (GRCm39)		probably benign	Het
Slc29a1	A	G	17: 45,897,089 (GRCm39)	I399T	probably damaging	Het
Sorl1	C	T	9: 41,915,330 (GRCm39)	V1300I	probably benign	Het
Tas2r117	T	C	6: 132,780,678 (GRCm39)	V272A	probably benign	Het
Tctn2	C	A	5: 124,746,624 (GRCm39)		noncoding transcript	Het
Tmem51	T	C	4: 141,759,089 (GRCm39)	N220D	probably damaging	Het
Trak2	T	C	1: 58,947,888 (GRCm39)	D584G	probably damaging	Het
Vmn1r78	A	G	7: 11,886,472 (GRCm39)	I28V	probably benign	Het
Vmn2r95	A	C	17: 18,672,248 (GRCm39)	I662L	probably benign	Het
Vwa8	C	A	14: 79,086,733 (GRCm39)	R4S	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
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
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

Posted On

2015-04-16