Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02138:Wdr38'

281407

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 #

IGL02138

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	G	14: 32,384,672 (GRCm39)	D431A	possibly damaging	Het
Adgrb1	T	C	15: 74,401,631 (GRCm39)	M209T	probably damaging	Het
Ano8	T	C	8: 71,937,486 (GRCm39)	H86R	probably damaging	Het
Camk1d	G	T	2: 5,449,895 (GRCm39)	Y87*	probably null	Het
Capza3	A	G	6: 139,987,872 (GRCm39)	D157G	probably benign	Het
Ckmt2	A	T	13: 92,009,947 (GRCm39)	D124E	probably benign	Het
Col14a1	C	A	15: 55,284,231 (GRCm39)	Q831K	unknown	Het
Copb2	C	T	9: 98,469,605 (GRCm39)	P829S	probably benign	Het
Dlg5	A	G	14: 24,208,419 (GRCm39)	V929A	probably benign	Het
Dolk	A	G	2: 30,175,991 (GRCm39)	V18A	probably benign	Het
Ecm2	G	T	13: 49,676,304 (GRCm39)	L340F	probably damaging	Het
Hacl1	A	G	14: 31,352,940 (GRCm39)	L149P	probably benign	Het
Higd2a	A	T	13: 54,738,235 (GRCm39)		probably null	Het
Hspa12a	A	T	19: 58,816,730 (GRCm39)	S28R	probably benign	Het
Igkv5-37	A	G	6: 69,940,435 (GRCm39)	Y70H	probably damaging	Het
Iho1	G	A	9: 108,283,820 (GRCm39)	T208I	probably benign	Het
Kif11	T	C	19: 37,373,057 (GRCm39)	V92A	probably damaging	Het
Kif26a	T	C	12: 112,141,284 (GRCm39)	S696P	probably damaging	Het
Kng1	A	T	16: 22,886,558 (GRCm39)	N168Y	probably damaging	Het
Krt26	C	T	11: 99,224,471 (GRCm39)	R349Q	probably benign	Het
Lepr	A	G	4: 101,625,264 (GRCm39)	D473G	probably damaging	Het
Lipt1	G	A	1: 37,914,867 (GRCm39)	E308K	possibly damaging	Het
Luc7l3	A	T	11: 94,194,792 (GRCm39)	F76Y	probably benign	Het
Mapk1	A	G	16: 16,841,316 (GRCm39)	I163V	probably benign	Het
Matn3	A	G	12: 9,017,638 (GRCm39)	E430G	possibly damaging	Het
Med13	A	T	11: 86,177,591 (GRCm39)	S1502T	probably damaging	Het
Mlf1	A	T	3: 67,307,046 (GRCm39)	H237L	probably benign	Het
Mss51	A	C	14: 20,534,923 (GRCm39)	Y282*	probably null	Het
Ncoa3	A	G	2: 165,897,182 (GRCm39)	T658A	probably benign	Het
Or1p1c	A	T	11: 74,160,544 (GRCm39)	M110L	probably benign	Het
Or7d11	A	T	9: 19,966,196 (GRCm39)	S188T	probably benign	Het
Phrf1	T	A	7: 140,839,196 (GRCm39)		probably benign	Het
Ppme1	C	T	7: 99,983,139 (GRCm39)	M335I	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Sntg2	T	A	12: 30,357,230 (GRCm39)		probably null	Het
Spryd3	T	C	15: 102,027,354 (GRCm39)		probably benign	Het
Srpx	A	G	X: 9,933,662 (GRCm39)		probably null	Het
St8sia1	G	T	6: 142,909,504 (GRCm39)		probably benign	Het
Stab1	A	G	14: 30,865,470 (GRCm39)		probably null	Het
Sycp2	A	T	2: 178,000,047 (GRCm39)	S976R	probably benign	Het
Sycp2	T	A	2: 178,043,783 (GRCm39)	K108*	probably null	Het
Tagap1	T	C	17: 7,223,485 (GRCm39)	T404A	probably damaging	Het
Tg	C	T	15: 66,589,082 (GRCm39)	T21I	probably benign	Het
Tlr4	A	T	4: 66,759,202 (GRCm39)	Y665F	probably damaging	Het
Tmc8	T	G	11: 117,682,081 (GRCm39)	S525A	probably benign	Het
Tor4a	A	T	2: 25,084,810 (GRCm39)	D364E	probably benign	Het
Trim44	T	C	2: 102,211,253 (GRCm39)	I236V	probably benign	Het
Ube2o	A	G	11: 116,434,226 (GRCm39)		probably benign	Het
Xirp2	A	T	2: 67,347,300 (GRCm39)	R3180S	probably benign	Het
Zfp335	A	G	2: 164,735,724 (GRCm39)	C1077R	probably damaging	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
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
IGL02423: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