Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01511:Wdr78'

89209

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr78

Ensembl Gene

ENSMUSG00000035126

Gene Name

WD repeat domain 78

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

IGL01511

Quality Score

Status

Chromosome

Chromosomal Location

103038065-103114555 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103048361 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 741 (D741G)

Ref Sequence

ENSEMBL: ENSMUSP00000102481 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036451] [ENSMUST00000036557] [ENSMUST00000106868] [ENSMUST00000116316]

AlphaFold

E9PYY5

Predicted Effect

probably benign
Transcript: ENSMUST00000036451

SMART Domains

Protein: ENSMUSP00000037588
Gene: ENSMUSG00000035126

Domain	Start	End	E-Value	Type
low complexity region	12	20	N/A	INTRINSIC
low complexity region	32	43	N/A	INTRINSIC
low complexity region	138	157	N/A	INTRINSIC
low complexity region	189	206	N/A	INTRINSIC
low complexity region	219	234	N/A	INTRINSIC
low complexity region	382	390	N/A	INTRINSIC
low complexity region	399	423	N/A	INTRINSIC
internal_repeat_1	447	466	2.11e-5	PROSPERO
WD40	485	524	1.85e-3	SMART
WD40	534	581	5.7e1	SMART

Predicted Effect

silent
Transcript: ENSMUST00000036557

SMART Domains

Protein: ENSMUSP00000042272
Gene: ENSMUSG00000035126

Domain	Start	End	E-Value	Type
low complexity region	59	67	N/A	INTRINSIC
low complexity region	76	100	N/A	INTRINSIC
WD40	133	172	9.24e-4	SMART
WD40	182	229	5.7e1	SMART
low complexity region	249	261	N/A	INTRINSIC
Blast:WD40	262	296	2e-12	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106868
AA Change: D741G

PolyPhen 2 Score 0.809 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102481
Gene: ENSMUSG00000035126
AA Change: D741G

Domain	Start	End	E-Value	Type
low complexity region	12	20	N/A	INTRINSIC
low complexity region	32	43	N/A	INTRINSIC
low complexity region	138	157	N/A	INTRINSIC
low complexity region	189	206	N/A	INTRINSIC
low complexity region	219	234	N/A	INTRINSIC
low complexity region	382	390	N/A	INTRINSIC
low complexity region	399	423	N/A	INTRINSIC
internal_repeat_1	447	466	8.61e-5	PROSPERO
WD40	485	524	1.85e-3	SMART
WD40	534	581	5.7e1	SMART
low complexity region	601	613	N/A	INTRINSIC
Blast:WD40	614	648	3e-12	BLAST
WD40	652	692	2.38e-6	SMART
WD40	695	734	1.48e-2	SMART
WD40	739	779	6.14e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000116316

SMART Domains

Protein: ENSMUSP00000112018
Gene: ENSMUSG00000035126

Domain	Start	End	E-Value	Type
low complexity region	12	20	N/A	INTRINSIC
low complexity region	32	43	N/A	INTRINSIC
low complexity region	138	157	N/A	INTRINSIC
low complexity region	189	206	N/A	INTRINSIC
low complexity region	219	234	N/A	INTRINSIC
low complexity region	382	390	N/A	INTRINSIC
low complexity region	399	423	N/A	INTRINSIC
internal_repeat_1	447	466	2.11e-5	PROSPERO
WD40	485	524	1.85e-3	SMART
WD40	534	581	5.7e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136355

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138960

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,244,310	D216E	probably benign	Het
Abcc4	C	A	14: 118,599,341	L669F	probably benign	Het
Adam29	C	T	8: 55,871,421	G666D	probably damaging	Het
Adat2	T	G	10: 13,560,238	M109R	probably null	Het
Atf3	T	A	1: 191,171,496	T178S	probably benign	Het
Birc6	T	A	17: 74,627,003	Y2522*	probably null	Het
Ccr8	G	A	9: 120,094,625	G269R	probably damaging	Het
Ces1a	G	T	8: 93,045,098	P24T	probably damaging	Het
Chrna4	C	T	2: 181,028,668	V432I	probably benign	Het
Commd8	A	G	5: 72,165,379	V65A	probably benign	Het
Cyp2j13	A	G	4: 96,077,315	F52L	possibly damaging	Het
Desi1	T	A	15: 82,002,588	K45*	probably null	Het
Dmbt1	T	A	7: 131,116,728	M1552K	possibly damaging	Het
Dna2	G	A	10: 62,955,314	M197I	possibly damaging	Het
Dnah7a	A	C	1: 53,419,595	L3795V	probably damaging	Het
Fam221b	T	C	4: 43,660,135		probably null	Het
Fbxw18	A	T	9: 109,688,821	S366T	possibly damaging	Het
Fzd8	A	G	18: 9,213,293	Y125C	unknown	Het
Gcsam	T	C	16: 45,615,952	Y11H	probably damaging	Het
Gucy2f	G	T	X: 142,161,734	D410E	probably damaging	Het
Hdac3	C	T	18: 37,952,595	A53T	probably benign	Het
Lamp2	A	G	X: 38,431,875	L244P	probably damaging	Het
Lrrk1	A	T	7: 66,265,450	F1630Y	possibly damaging	Het
M1ap	C	A	6: 83,028,412	D434E	probably benign	Het
Mcmbp	A	G	7: 128,707,164	Y378H	probably damaging	Het
Mvb12a	T	A	8: 71,545,302	V120E	probably damaging	Het
Nbeal2	A	C	9: 110,629,234	W2063G	probably damaging	Het
Neto1	A	C	18: 86,395,908	H9P	possibly damaging	Het
Nmu	C	T	5: 76,340,821	V126M	probably damaging	Het
Odf2	T	C	2: 29,914,309		probably benign	Het
Olfr1387	A	G	11: 49,460,216	E179G	probably damaging	Het
Pdzrn3	T	C	6: 101,153,256	H533R	possibly damaging	Het
Pikfyve	G	T	1: 65,258,869	E1586*	probably null	Het
Plcb3	C	A	19: 6,955,843	R970L	probably damaging	Het
Plxna3	A	G	X: 74,335,308	E686G	probably damaging	Het
Polrmt	T	A	10: 79,740,151	Y586F	probably benign	Het
Ppt1	T	A	4: 122,854,425	F225I	probably damaging	Het
Prcc	T	G	3: 87,872,241	D162A	probably damaging	Het
Ripor1	T	C	8: 105,619,930		probably benign	Het
Rnaseh1	A	G	12: 28,659,009	H263R	probably damaging	Het
Rnf19b	T	A	4: 129,080,418	S490R	probably damaging	Het
Slc15a2	T	A	16: 36,784,726	T23S	probably damaging	Het
Slc17a2	T	C	13: 23,819,138		probably null	Het
Slc35f4	T	C	14: 49,298,877	M434V	probably benign	Het
Slc52a3	C	T	2: 152,004,644	T175I	probably benign	Het
Slc5a2	C	T	7: 128,270,622	T409M	probably benign	Het
Tbc1d24	A	G	17: 24,181,918	S108P	probably benign	Het
Thnsl2	T	G	6: 71,139,793	Q125P	probably benign	Het
Ttc13	T	C	8: 124,676,371	D672G	probably damaging	Het
Ttn	G	T	2: 76,753,745	H14013N	possibly damaging	Het
Unc5a	T	C	13: 55,004,816	F792L	probably damaging	Het
Vac14	T	C	8: 110,712,798	V669A	possibly damaging	Het
Vmn1r13	A	T	6: 57,210,329	M158L	probably benign	Het
Vmn1r220	A	T	13: 23,184,214	V104D	probably damaging	Het
Zfp738	A	T	13: 67,683,401		probably null	Het
Zscan5b	A	C	7: 6,231,422	H149P	probably benign	Het

Other mutations in Wdr78

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00505:Wdr78	APN	4	103103242	missense	possibly damaging	0.77
IGL01508:Wdr78	APN	4	103072687	missense	possibly damaging	0.94
IGL01509:Wdr78	APN	4	103072687	missense	possibly damaging	0.94
IGL01693:Wdr78	APN	4	103087330	splice site	probably null
IGL01731:Wdr78	APN	4	103062435	missense	probably benign	0.01
IGL02033:Wdr78	APN	4	103066293	missense	possibly damaging	0.58
IGL02100:Wdr78	APN	4	103050149	missense	probably damaging	1.00
IGL02218:Wdr78	APN	4	103096774	missense	probably damaging	1.00
IGL02226:Wdr78	APN	4	103090398	missense	probably benign	0.00
IGL02476:Wdr78	APN	4	103087348	missense	possibly damaging	0.46
IGL02929:Wdr78	APN	4	103059991	nonsense	probably null
R0070:Wdr78	UTSW	4	103059934	missense	probably damaging	1.00
R0377:Wdr78	UTSW	4	103048259	missense	probably damaging	1.00
R0433:Wdr78	UTSW	4	103103253	missense	probably benign	0.41
R0518:Wdr78	UTSW	4	103064530	nonsense	probably null
R0538:Wdr78	UTSW	4	103096618	missense	possibly damaging	0.65
R0624:Wdr78	UTSW	4	103072857	splice site	probably benign
R0894:Wdr78	UTSW	4	103049386	intron	probably benign
R1463:Wdr78	UTSW	4	103087418	missense	possibly damaging	0.95
R1818:Wdr78	UTSW	4	103072657	missense	possibly damaging	0.67
R2073:Wdr78	UTSW	4	103050193	missense	probably damaging	1.00
R2075:Wdr78	UTSW	4	103050193	missense	probably damaging	1.00
R2436:Wdr78	UTSW	4	103066352	missense	probably benign	0.01
R2851:Wdr78	UTSW	4	103096661	missense	probably benign	0.12
R2852:Wdr78	UTSW	4	103096661	missense	probably benign	0.12
R2853:Wdr78	UTSW	4	103050158	missense	possibly damaging	0.90
R4491:Wdr78	UTSW	4	103066399	missense	probably benign	0.04
R4792:Wdr78	UTSW	4	103072684	missense	possibly damaging	0.94
R5223:Wdr78	UTSW	4	103049403	missense	possibly damaging	0.87
R5290:Wdr78	UTSW	4	103049533	missense	probably benign	0.00
R5465:Wdr78	UTSW	4	103049561	missense	probably damaging	1.00
R5975:Wdr78	UTSW	4	103049589	missense	probably benign	0.03
R6239:Wdr78	UTSW	4	103066443	missense	probably benign
R6304:Wdr78	UTSW	4	103087356	missense	probably benign	0.35
R6456:Wdr78	UTSW	4	103049549	missense	probably benign	0.00
R6467:Wdr78	UTSW	4	103049561	missense	probably damaging	1.00
R6813:Wdr78	UTSW	4	103048326	missense	probably benign	0.26
R7161:Wdr78	UTSW	4	103096616	missense	probably benign	0.28
R7198:Wdr78	UTSW	4	103062413	missense	probably damaging	0.98
R7208:Wdr78	UTSW	4	103066352	missense	probably benign	0.00
R7320:Wdr78	UTSW	4	103050187	missense	possibly damaging	0.68
R7742:Wdr78	UTSW	4	103090433	missense	probably benign
R7939:Wdr78	UTSW	4	103096601	nonsense	probably null
R8120:Wdr78	UTSW	4	103066334	missense	probably damaging	1.00
R8353:Wdr78	UTSW	4	103059916	missense	possibly damaging	0.63
R8453:Wdr78	UTSW	4	103059916	missense	possibly damaging	0.63
R8813:Wdr78	UTSW	4	103090500	missense	possibly damaging	0.53
R8870:Wdr78	UTSW	4	103087332	critical splice donor site	probably null
R8909:Wdr78	UTSW	4	103087410	missense	possibly damaging	0.91
R8957:Wdr78	UTSW	4	103096753	missense	probably damaging	1.00
R9035:Wdr78	UTSW	4	103048302	nonsense	probably null
R9060:Wdr78	UTSW	4	103090553	missense	probably benign	0.06
R9132:Wdr78	UTSW	4	103059733	missense	probably damaging	1.00
R9141:Wdr78	UTSW	4	103049546	missense	probably damaging	0.98
R9188:Wdr78	UTSW	4	103082135	missense
R9426:Wdr78	UTSW	4	103049546	missense	probably damaging	0.98
Z1176:Wdr78	UTSW	4	103072771	missense	probably benign	0.08

Posted On

2013-12-03