Mutagenetix > Incidental Mutation

Incidental Mutation 'R7161:Wdr78'

557567

Institutional Source

Beutler Lab

Gene Symbol

Wdr78

Ensembl Gene

ENSMUSG00000035126

Gene Name

WD repeat domain 78

Synonyms

MMRRC Submission

045260-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.129) question?

Stock #

R7161 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103038065-103114555 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 103096616 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 129 (P129S)

Ref Sequence

ENSEMBL: ENSMUSP00000102481 (fasta)

Gene Model

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

AlphaFold

E9PYY5

Predicted Effect

probably damaging
Transcript: ENSMUST00000036451
AA Change: P129S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037588
Gene: ENSMUSG00000035126
AA Change: P129S

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

probably benign
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

probably benign
Transcript: ENSMUST00000106868
AA Change: P129S

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102481
Gene: ENSMUSG00000035126
AA Change: P129S

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 damaging
Transcript: ENSMUST00000116316
AA Change: P129S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000112018
Gene: ENSMUSG00000035126
AA Change: P129S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	A	2: 130,806,788	R258L	unknown	Het
Abca8a	T	A	11: 110,074,142	Q443L	probably benign	Het
Acad12	A	T	5: 121,607,373	M285K	probably damaging	Het
Afdn	T	A	17: 13,888,946	M1592K	possibly damaging	Het
Bpifb9b	A	T	2: 154,313,615	T345S	possibly damaging	Het
Bub1b	A	G	2: 118,626,053	E526G	probably damaging	Het
Car13	A	G	3: 14,645,208	D70G	probably benign	Het
Ccdc127	A	T	13: 74,352,877	L4F	probably damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Ccr10	A	G	11: 101,174,278	I142T	probably benign	Het
Cep126	C	T	9: 8,087,399	V1005M	probably benign	Het
Chil6	A	G	3: 106,394,412	I124T	probably benign	Het
Coq8a	A	G	1: 180,170,341		probably null	Het
Ctf2	T	A	7: 127,719,304	K174N	probably damaging	Het
Dapk1	T	C	13: 60,696,395	V76A	possibly damaging	Het
Disp1	A	G	1: 183,087,625	M1077T	possibly damaging	Het
Dnah9	T	A	11: 65,855,372	K3972*	probably null	Het
Dusp7	T	A	9: 106,368,915	S40T	unknown	Het
Emg1	T	C	6: 124,705,749	T88A	probably benign	Het
Fbxo5	A	G	10: 5,802,043	V190A	possibly damaging	Het
Fbxw20	T	G	9: 109,225,980	D167A	probably damaging	Het
Fes	A	T	7: 80,380,861	V562E	probably damaging	Het
Foxj1	C	G	11: 116,332,408	G190R	probably damaging	Het
Gatsl2	C	A	5: 134,135,190	T75N	probably damaging	Het
Gdf15	T	G	8: 70,631,342	S91R	possibly damaging	Het
Gm4846	C	A	1: 166,487,010	V355F	probably damaging	Het
Herc4	T	A	10: 63,308,415	Y776N	probably benign	Het
Hspg2	G	A	4: 137,514,719	R588H	probably damaging	Het
Igkv6-25	T	A	6: 70,215,778	Y56*	probably null	Het
Itpr1	C	T	6: 108,386,640	A741V	probably damaging	Het
Kbtbd8	T	A	6: 95,126,696	I519K	probably benign	Het
Kcnh5	T	A	12: 74,897,709	Q922L	probably benign	Het
Kiss1r	T	C	10: 79,919,489	Y103H	probably damaging	Het
Knl1	A	G	2: 119,070,785	E989G	possibly damaging	Het
Lamc1	A	T	1: 153,226,454	L1466Q	probably damaging	Het
Lap3	C	T	5: 45,498,467	P138L	probably benign	Het
Lhx1	G	A	11: 84,519,872	P300S	probably damaging	Het
Mppe1	G	A	18: 67,229,771	A131V	probably benign	Het
Neb	A	T	2: 52,271,592	Y2063N	probably damaging	Het
Nfe2l1	A	G	11: 96,817,720	F740L	probably benign	Het
Nop10	A	G	2: 112,262,046	N8S	probably benign	Het
Olfr1097	A	C	2: 86,890,649	H175Q	probably benign	Het
Opalin	T	A	19: 41,069,935	T20S	possibly damaging	Het
Pask	C	T	1: 93,310,905	S1286N	probably benign	Het
Pcdhgc4	A	T	18: 37,815,663	E44V	probably damaging	Het
Pde1a	A	G	2: 79,865,214	M463T	probably benign	Het
Pde6a	A	T	18: 61,281,525	M714L	probably benign	Het
Pik3c2b	A	G	1: 133,106,112	E1618G	probably damaging	Het
Pou2f3	T	C	9: 43,139,363	N234S	probably damaging	Het
Ptprm	T	A	17: 66,809,627	T886S	probably benign	Het
Rab11fip3	C	A	17: 26,069,090	D30Y	probably benign	Het
Rassf10	A	T	7: 112,954,500	I103F	probably damaging	Het
Rfc4	A	G	16: 23,115,433	I206T	probably benign	Het
Rhcg	A	G	7: 79,617,441	F29S	probably damaging	Het
Sec11c	A	G	18: 65,812,732	I89V	probably benign	Het
Serac1	T	C	17: 6,065,076	D204G	probably damaging	Het
Serpinb3c	T	C	1: 107,273,162	N175S	probably null	Het
Slc25a19	C	T	11: 115,616,547	E250K	possibly damaging	Het
Slc9a8	A	T	2: 167,465,383	Y329F	possibly damaging	Het
Smagp	T	C	15: 100,636,245		probably benign	Het
Spats1	T	A	17: 45,449,169	Q268H	probably benign	Het
Spef2	T	C	15: 9,717,603	T219A	probably benign	Het
Spink13	A	G	18: 62,614,955	M11T	probably benign	Het
Susd1	T	C	4: 59,329,581	D669G	possibly damaging	Het
Svep1	A	G	4: 58,128,859	Y613H	possibly damaging	Het
Tcp10b	T	C	17: 13,081,746	*439Q	probably null	Het
Tmed2	T	A	5: 124,546,920	M133K	possibly damaging	Het
Trpv5	A	T	6: 41,660,536	Y370*	probably null	Het
Ttn	A	G	2: 76,812,244	S13316P	probably damaging	Het
Uap1l1	A	T	2: 25,363,280	M381K	probably damaging	Het
Wdr26	A	G	1: 181,203,130	Y200H	probably damaging	Het
Zfhx4	A	T	3: 5,244,083	M790L	possibly damaging	Het
Zscan25	T	C	5: 145,286,441	L173P	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
IGL01511:Wdr78	APN	4	103048361	missense	possibly damaging	0.81
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
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

Predicted Primers

PCR Primer
(F):5'- GGAACTATTTAATCAAGCTCTGAGC -3'
(R):5'- AGTTCGAAACCTTGCCCTG -3'

Sequencing Primer
(F):5'- ACGCATGAATCCAAACGG -3'
(R):5'- AGTTCGAAACCTTGCCCTGTCTAG -3'

Posted On

2019-06-26