Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03374:AW551984'

420412

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: 0.065) question?

Stock #

IGL03374

Quality Score

Status

Chromosome

Chromosomal Location

39498692-39515699 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 39511062 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 175 (E175G)

Ref Sequence

ENSEMBL: ENSMUSP00000117328 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042485] [ENSMUST00000119722] [ENSMUST00000130829] [ENSMUST00000141370]

AlphaFold

Q8BGF0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042485
AA Change: E175G

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000042582
Gene: ENSMUSG00000038112
AA Change: E175G

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: E175G

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113212
Gene: ENSMUSG00000038112
AA Change: E175G

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: ENSMUST00000130829

SMART Domains

Protein: ENSMUSP00000117262
Gene: ENSMUSG00000038112

Domain	Start	End	E-Value	Type
Pfam:VIT_2	5	52	1.4e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136814

Predicted Effect

possibly damaging
Transcript: ENSMUST00000141370
AA Change: E175G

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117328
Gene: ENSMUSG00000038112
AA Change: E175G

Domain	Start	End	E-Value	Type
VIT	1	131	1.59e-47	SMART

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
Aox3	G	A	1: 58,211,007 (GRCm39)	R917Q	probably damaging	Het
Atl1	T	C	12: 70,002,141 (GRCm39)	Y367H	probably damaging	Het
Cacna2d1	T	A	5: 16,561,821 (GRCm39)	D800E	probably damaging	Het
Cdon	T	A	9: 35,389,299 (GRCm39)	F801L	possibly damaging	Het
Dcaf13	C	T	15: 39,008,543 (GRCm39)	Q382*	probably null	Het
Dpy19l3	T	C	7: 35,411,633 (GRCm39)	N367S	possibly damaging	Het
F11	A	G	8: 45,714,111 (GRCm39)	S3P	possibly damaging	Het
Fhip1b	T	C	7: 105,033,158 (GRCm39)	E57G	probably damaging	Het
Fryl	A	T	5: 73,267,624 (GRCm39)		probably benign	Het
Gcnt3	A	T	9: 69,941,695 (GRCm39)	M291K	possibly damaging	Het
Glg1	T	C	8: 111,889,412 (GRCm39)	D927G	probably damaging	Het
Gm5862	C	A	5: 26,224,510 (GRCm39)	R153L	probably damaging	Het
Gucy2c	T	C	6: 136,742,628 (GRCm39)	T237A	probably benign	Het
Helz	A	T	11: 107,510,973 (GRCm39)	I610F	probably damaging	Het
Hpd	T	C	5: 123,310,108 (GRCm39)	E372G	probably damaging	Het
Hsd17b13	A	G	5: 104,124,964 (GRCm39)		probably benign	Het
Klhl32	G	A	4: 24,649,533 (GRCm39)		probably benign	Het
Krt74	T	A	15: 101,668,937 (GRCm39)		noncoding transcript	Het
Nopchap1	G	A	10: 83,201,571 (GRCm39)	V115M	probably damaging	Het
Or14a258	T	A	7: 86,035,574 (GRCm39)	Q98L	probably damaging	Het
Or9g4b	T	C	2: 85,616,053 (GRCm39)	L66P	probably damaging	Het
Phyhipl	A	G	10: 70,401,109 (GRCm39)	V163A	possibly damaging	Het
Pknox2	T	A	9: 36,834,966 (GRCm39)	T168S	probably damaging	Het
Pmfbp1	T	C	8: 110,269,046 (GRCm39)		probably benign	Het
Sgce	G	A	6: 4,689,718 (GRCm39)	R372*	probably null	Het
Stard5	T	C	7: 83,285,980 (GRCm39)	S102P	possibly damaging	Het
Syne2	A	G	12: 76,121,360 (GRCm39)	K5941R	possibly damaging	Het
Tas2r124	A	T	6: 132,732,081 (GRCm39)	H130L	probably benign	Het
Ttn	T	C	2: 76,546,027 (GRCm39)	E32462G	probably damaging	Het
Tut4	T	C	4: 108,415,974 (GRCm39)	S1647P	probably damaging	Het
Ube2d3	A	G	3: 135,165,844 (GRCm39)		probably null	Het
Vps13d	G	T	4: 144,835,145 (GRCm39)	H1561Q	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
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

2016-08-02