Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00429:AW551984'

4908

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 #

IGL00429

Quality Score

Status

Chromosome

Chromosomal Location

39498692-39515699 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39504145 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 607 (D607G)

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: D607G

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000042582
Gene: ENSMUSG00000038112
AA Change: D607G

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: D607G

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113212
Gene: ENSMUSG00000038112
AA Change: D607G

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009J07Rik	G	A	10: 77,729,673 (GRCm39)		probably benign	Het
4933411K16Rik	T	C	19: 42,040,983 (GRCm39)	L38P	probably damaging	Het
Abca1	A	G	4: 53,059,255 (GRCm39)		probably null	Het
Abca15	T	A	7: 119,996,277 (GRCm39)	I1401N	probably damaging	Het
Adam3	A	C	8: 25,184,294 (GRCm39)	Y569D	probably damaging	Het
Ap2a1	T	C	7: 44,555,192 (GRCm39)	S458G	probably damaging	Het
Asxl3	C	T	18: 22,658,280 (GRCm39)	P2097S	probably benign	Het
Ccdc158	C	A	5: 92,805,740 (GRCm39)	M338I	probably benign	Het
Cdh23	A	G	10: 60,256,920 (GRCm39)	S735P	probably damaging	Het
Cdh9	T	C	15: 16,828,448 (GRCm39)	V180A	probably damaging	Het
Cyp4a31	A	T	4: 115,432,171 (GRCm39)		probably benign	Het
Dus4l	A	G	12: 31,691,668 (GRCm39)	V180A	probably benign	Het
Dysf	A	T	6: 84,166,826 (GRCm39)	T1672S	probably damaging	Het
F830016B08Rik	T	A	18: 60,433,340 (GRCm39)	L141Q	probably damaging	Het
Fhod3	A	G	18: 25,127,597 (GRCm39)	E313G	probably damaging	Het
Gm4884	A	G	7: 40,693,809 (GRCm39)	T593A	probably benign	Het
H2bc14	T	C	13: 21,906,310 (GRCm39)	S15P	possibly damaging	Het
Il18r1	G	A	1: 40,537,812 (GRCm39)	E526K	possibly damaging	Het
Lama4	A	T	10: 38,887,022 (GRCm39)	H109L	possibly damaging	Het
Mab21l1	A	C	3: 55,690,557 (GRCm39)	Q48P	probably damaging	Het
Magi3	T	A	3: 103,922,294 (GRCm39)	K1474N	probably damaging	Het
Mre11a	T	C	9: 14,714,109 (GRCm39)	F237L	probably damaging	Het
Mst1r	A	T	9: 107,790,449 (GRCm39)		probably benign	Het
Mtcl2	A	C	2: 156,872,784 (GRCm39)	F909C	probably damaging	Het
Myh2	C	T	11: 67,071,616 (GRCm39)	Q478*	probably null	Het
Mylip	C	A	13: 45,562,043 (GRCm39)	P282T	probably benign	Het
Mymk	T	C	2: 26,952,799 (GRCm39)	Y103C	probably damaging	Het
Necab1	A	T	4: 15,052,656 (GRCm39)	N107K	probably damaging	Het
Pclo	T	C	5: 14,730,753 (GRCm39)		probably benign	Het
Phgdh	T	C	3: 98,235,631 (GRCm39)	K129E	probably damaging	Het
Plxna4	T	C	6: 32,139,026 (GRCm39)	Y1714C	probably damaging	Het
Pm20d2	A	G	4: 33,187,205 (GRCm39)		probably benign	Het
Ppfibp2	A	G	7: 107,296,801 (GRCm39)	T172A	probably benign	Het
Prkca	T	C	11: 108,234,334 (GRCm39)	T54A	probably benign	Het
Prlr	A	G	15: 10,328,410 (GRCm39)	D295G	probably benign	Het
Rdh12	A	G	12: 79,258,176 (GRCm39)	I68V	probably benign	Het
Slc14a2	A	G	18: 78,193,653 (GRCm39)	F850L	possibly damaging	Het
Smad2	A	T	18: 76,431,566 (GRCm39)	S185C	possibly damaging	Het
Trav13n-4	T	A	14: 53,601,288 (GRCm39)	L19Q	probably benign	Het
Ush2a	T	A	1: 188,132,311 (GRCm39)	C844*	probably null	Het
Vwce	T	A	19: 10,641,875 (GRCm39)		probably null	Het
Wdr95	T	C	5: 149,518,709 (GRCm39)		probably benign	Het
Zfp143	T	C	7: 109,690,979 (GRCm39)	I510T	probably damaging	Het
Zfp930	G	T	8: 69,680,634 (GRCm39)	K90N	probably damaging	Het

Other mutations in AW551984

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-04-20