Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02423:Wdr38'

292756

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr38

Ensembl Gene

ENSMUSG00000035295

Gene Name

WD repeat domain 38

Synonyms

1700123D08Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02423

Quality Score

Status

Chromosome

Chromosomal Location

38888287-38891600 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 38888424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 7 (N7I)

Ref Sequence

ENSEMBL: ENSMUSP00000108493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039535] [ENSMUST00000080861] [ENSMUST00000112872]

AlphaFold

Q9D994

Predicted Effect

probably damaging
Transcript: ENSMUST00000039535
AA Change: N7I

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043834
Gene: ENSMUSG00000035295
AA Change: N7I

Domain	Start	End	E-Value	Type
WD40	15	54	9.67e-7	SMART
WD40	57	96	9.22e-13	SMART
WD40	99	138	4.4e-10	SMART
WD40	141	180	1.21e-7	SMART
WD40	186	224	9.97e-9	SMART
WD40	227	266	4.34e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000080861

SMART Domains

Protein: ENSMUSP00000079672
Gene: ENSMUSG00000062997

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L29	7	63	2.7e-22	PFAM
low complexity region	95	108	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112872
AA Change: N7I

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108493
Gene: ENSMUSG00000035295
AA Change: N7I

Domain	Start	End	E-Value	Type
WD40	15	54	9.67e-7	SMART
WD40	57	96	9.22e-13	SMART
WD40	99	138	4.4e-10	SMART
WD40	141	180	1.21e-7	SMART
WD40	186	224	9.97e-9	SMART
WD40	227	266	4.34e-9	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124062

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141133

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152441

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Abca6	A	G	11: 110,109,832 (GRCm39)		probably benign	Het
Adarb2	A	T	13: 8,619,756 (GRCm39)	R81W	probably damaging	Het
Adgrf4	T	C	17: 42,983,467 (GRCm39)	I72V	probably benign	Het
Banp	A	G	8: 122,733,830 (GRCm39)	I360V	probably benign	Het
Bmp8a	C	A	4: 123,210,220 (GRCm39)	G289C	possibly damaging	Het
Car3	A	T	3: 14,931,911 (GRCm39)	H94L	probably damaging	Het
Ccdc137	G	A	11: 120,350,927 (GRCm39)	R108H	possibly damaging	Het
Cdk14	T	C	5: 4,938,905 (GRCm39)	N411S	probably benign	Het
Col4a2	A	G	8: 11,483,800 (GRCm39)	M907V	probably benign	Het
Cyp4f17	T	A	17: 32,725,923 (GRCm39)	W19R	possibly damaging	Het
Dmxl2	A	G	9: 54,301,032 (GRCm39)	S2360P	possibly damaging	Het
Eif2d	T	G	1: 131,081,097 (GRCm39)		probably benign	Het
Epx	A	G	11: 87,762,144 (GRCm39)	I369T	possibly damaging	Het
Fcgbp	A	G	7: 27,789,378 (GRCm39)	E648G	probably benign	Het
Fer1l4	G	A	2: 155,894,827 (GRCm39)	P14L	probably benign	Het
Folr1	A	G	7: 101,507,732 (GRCm39)	F236S	probably benign	Het
Foxj2	T	G	6: 122,819,732 (GRCm39)	M540R	possibly damaging	Het
Gtf2h1	A	G	7: 46,464,824 (GRCm39)	T420A	probably benign	Het
H2-T3	T	A	17: 36,498,248 (GRCm39)	T222S	probably damaging	Het
Ice1	A	T	13: 70,740,718 (GRCm39)	M2163K	probably damaging	Het
Inppl1	A	G	7: 101,481,450 (GRCm39)	V244A	probably benign	Het
Kansl3	A	T	1: 36,391,050 (GRCm39)	V373D	probably damaging	Het
Kdm3a	A	G	6: 71,590,987 (GRCm39)		probably benign	Het
Krtap1-3	A	T	11: 99,481,680 (GRCm39)	C156S	unknown	Het
Mab21l3	T	C	3: 101,726,045 (GRCm39)	D317G	probably damaging	Het
Nherf1	A	G	11: 115,054,539 (GRCm39)		probably null	Het
Nox3	T	C	17: 3,733,191 (GRCm39)	H240R	probably damaging	Het
Nxn	A	T	11: 76,164,858 (GRCm39)	S218T	probably benign	Het
Or5h22	A	T	16: 58,894,630 (GRCm39)	I271K	probably benign	Het
Or6c35	G	A	10: 129,169,397 (GRCm39)	V216I	probably benign	Het
Pcdhb13	T	C	18: 37,577,392 (GRCm39)	V590A	possibly damaging	Het
Pim3	T	C	15: 88,747,734 (GRCm39)	V200A	probably benign	Het
Plekha3	T	C	2: 76,510,524 (GRCm39)	F20L	probably damaging	Het
Pmp22	G	T	11: 63,049,118 (GRCm39)	R120S	possibly damaging	Het
Ppp1r9a	A	C	6: 4,906,537 (GRCm39)	D364A	probably benign	Het
Psd	A	G	19: 46,302,943 (GRCm39)	F155L	possibly damaging	Het
Rbm22	T	C	18: 60,704,891 (GRCm39)		probably benign	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Ryr2	A	T	13: 11,760,084 (GRCm39)	F1556I	probably damaging	Het
Scap	G	A	9: 110,207,685 (GRCm39)	A465T	probably benign	Het
Sdf2	A	G	11: 78,141,844 (GRCm39)	S60G	probably damaging	Het
Sema3a	T	C	5: 13,615,776 (GRCm39)	I400T	probably damaging	Het
Ski	T	C	4: 155,244,191 (GRCm39)	D478G	probably damaging	Het
Slc12a7	A	T	13: 73,911,882 (GRCm39)		probably benign	Het
Sned1	A	G	1: 93,211,322 (GRCm39)	T1074A	probably benign	Het
Srebf2	A	G	15: 82,059,298 (GRCm39)	T239A	probably damaging	Het
Stk4	C	T	2: 163,928,419 (GRCm39)	H84Y	probably benign	Het
Syne1	G	T	10: 5,318,295 (GRCm39)	Q444K	probably benign	Het
Tecpr1	T	A	5: 144,140,305 (GRCm39)	I817F	possibly damaging	Het
Tep1	G	T	14: 51,082,077 (GRCm39)	Q1159K	possibly damaging	Het
Tmem39b	G	A	4: 129,572,442 (GRCm39)	H387Y	probably damaging	Het
Tpp1	T	C	7: 105,398,907 (GRCm39)	H174R	probably damaging	Het
Ttn	C	T	2: 76,535,617 (GRCm39)	V35134I	probably benign	Het
Usp34	A	G	11: 23,304,900 (GRCm39)	I378V	probably benign	Het
Vinac1	T	C	2: 128,889,968 (GRCm39)	E42G	probably benign	Het
Vmn2r1	T	A	3: 63,997,665 (GRCm39)	H440Q	probably benign	Het
Zcchc7	T	A	4: 44,931,244 (GRCm39)	D144E	possibly damaging	Het
Zic4	C	A	9: 91,266,228 (GRCm39)	H284N	probably damaging	Het
Zkscan6	A	G	11: 65,719,120 (GRCm39)	H380R	probably benign	Het

Other mutations in Wdr38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01549:Wdr38	APN	2	38,890,730 (GRCm39)	missense	probably damaging	1.00
IGL02019:Wdr38	APN	2	38,888,424 (GRCm39)	missense	probably damaging	0.97
IGL02020:Wdr38	APN	2	38,888,424 (GRCm39)	missense	probably damaging	0.97
IGL02137:Wdr38	APN	2	38,888,424 (GRCm39)	missense	probably damaging	0.97
IGL02138:Wdr38	APN	2	38,888,424 (GRCm39)	missense	probably damaging	0.97
IGL02172:Wdr38	APN	2	38,888,424 (GRCm39)	missense	probably damaging	0.97
IGL02178:Wdr38	APN	2	38,888,424 (GRCm39)	missense	probably damaging	0.97
IGL02422:Wdr38	APN	2	38,888,424 (GRCm39)	missense	probably damaging	0.97
IGL02525:Wdr38	APN	2	38,888,424 (GRCm39)	missense	probably damaging	0.97
IGL02526:Wdr38	APN	2	38,888,424 (GRCm39)	missense	probably damaging	0.97
IGL02621:Wdr38	APN	2	38,888,424 (GRCm39)	missense	probably damaging	0.97
IGL02623:Wdr38	APN	2	38,888,424 (GRCm39)	missense	probably damaging	0.97
IGL02624:Wdr38	APN	2	38,888,424 (GRCm39)	missense	probably damaging	0.97
IGL02625:Wdr38	APN	2	38,888,424 (GRCm39)	missense	probably damaging	0.97
PIT4696001:Wdr38	UTSW	2	38,889,984 (GRCm39)	critical splice acceptor site	probably null
R1473:Wdr38	UTSW	2	38,890,991 (GRCm39)	missense	probably benign	0.03
R1794:Wdr38	UTSW	2	38,890,741 (GRCm39)	missense	probably damaging	1.00
R3964:Wdr38	UTSW	2	38,889,362 (GRCm39)	missense	probably damaging	1.00
R6005:Wdr38	UTSW	2	38,891,333 (GRCm39)	missense	possibly damaging	0.57
R6432:Wdr38	UTSW	2	38,890,723 (GRCm39)	missense	probably damaging	1.00
R6513:Wdr38	UTSW	2	38,889,970 (GRCm39)	splice site	probably null
R7266:Wdr38	UTSW	2	38,890,276 (GRCm39)	missense	probably damaging	1.00
R7454:Wdr38	UTSW	2	38,888,352 (GRCm39)	start gained	probably benign
R7834:Wdr38	UTSW	2	38,890,196 (GRCm39)	missense	possibly damaging	0.84
R8333:Wdr38	UTSW	2	38,889,361 (GRCm39)	missense	probably damaging	1.00
R9542:Wdr38	UTSW	2	38,890,210 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16