Mutagenetix > Incidental Mutation

Incidental Mutation 'R9035:Wdr78'

687287

Institutional Source

Beutler Lab

Gene Symbol

Wdr78

Ensembl Gene

ENSMUSG00000035126

Gene Name

WD repeat domain 78

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R9035 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103038065-103114555 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 103048302 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 761 (K761*)

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

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 null
Transcript: ENSMUST00000106868
AA Change: K761*

SMART Domains

Protein: ENSMUSP00000102481
Gene: ENSMUSG00000035126
AA Change: K761*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

99% (90/91)

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430573F11Rik	C	T	8: 36,511,800	R186*	probably null	Het
Abca9	A	G	11: 110,130,635	L1083P	probably damaging	Het
Anxa7	G	T	14: 20,460,392	T356K	probably damaging	Het
Atg16l1	T	C	1: 87,765,445		probably null	Het
Bptf	A	G	11: 107,073,016	V1784A	probably damaging	Het
Cabs1	T	C	5: 87,980,450	V320A	probably damaging	Het
Camta1	A	C	4: 151,144,702	S558A	probably benign	Het
Ccdc180	A	T	4: 45,906,922	K466*	probably null	Het
Cdhr1	G	A	14: 37,088,967	P279L	possibly damaging	Het
Cenpe	A	G	3: 135,270,811	N2393S	probably benign	Het
Cep104	T	C	4: 153,979,005	V8A	probably benign	Het
Chaf1a	T	A	17: 56,064,110	V665E	probably damaging	Het
Clasp1	T	A	1: 118,503,853	D404E	probably damaging	Het
Clnk	G	A	5: 38,750,408	T169I	possibly damaging	Het
Cnst	G	A	1: 179,610,022	A384T	possibly damaging	Het
Ctnnd2	T	A	15: 30,332,016	M15K	possibly damaging	Het
Dlgap1	T	A	17: 70,516,860	L280Q	possibly damaging	Het
Dll1	T	C	17: 15,368,697	K572R	probably benign	Het
Dolk	C	A	2: 30,284,530	W501L	probably damaging	Het
Ednrb	G	A	14: 103,843,229	P83L	probably benign	Het
Edrf1	T	C	7: 133,643,702	W190R	probably damaging	Het
Epha5	T	A	5: 84,108,027	D468V	probably damaging	Het
Fat2	G	T	11: 55,303,721	P1164Q	probably damaging	Het
Fbln5	A	T	12: 101,750,782	V436E	probably damaging	Het
Fbxw10	G	T	11: 62,867,623	R558L	possibly damaging	Het
Fhod3	C	A	18: 25,028,083	S557R	probably benign	Het
Gm340	A	T	19: 41,584,960	H718L	probably benign	Het
Gmip	A	T	8: 69,820,648	H863L	probably damaging	Het
Grm3	A	T	5: 9,570,464	I260N	probably damaging	Het
Gtpbp8	G	A	16: 44,746,148	P64S	probably benign	Het
Hand1	A	C	11: 57,831,722	M22R	probably benign	Het
Igsf21	A	G	4: 140,157,471	V58A	probably damaging	Het
Ikzf2	G	A	1: 69,539,478	R291*	probably null	Het
Itih4	C	G	14: 30,896,693	P687R	probably benign	Het
Kifc3	C	T	8: 95,126,567	D54N	possibly damaging	Het
Kmt2c	G	T	5: 25,319,012	Q1739K	probably damaging	Het
Krtap4-1	G	T	11: 99,627,882	R101S	unknown	Het
L3mbtl2	T	A	15: 81,676,543		probably benign	Het
Lrrc73	T	C	17: 46,254,367	I8T	probably damaging	Het
Med19	C	A	2: 84,686,188		probably benign	Het
Mgarp	C	T	3: 51,388,843	S246N	unknown	Het
Mkrn2	T	C	6: 115,617,720	S414P	possibly damaging	Het
Mucl2	C	T	15: 103,896,013	R137H	unknown	Het
Myo1g	A	G	11: 6,514,916	Y453H	probably damaging	Het
Nacc2	C	A	2: 26,061,593	R410L	probably damaging	Het
Ndufs3	C	T	2: 90,894,873	R210H	probably damaging	Het
Nlgn1	G	T	3: 25,434,431	T580K	probably damaging	Het
Nobox	A	T	6: 43,307,588	D41E	probably damaging	Het
Nsd1	A	G	13: 55,245,854	R526G	possibly damaging	Het
Nt5e	A	G	9: 88,364,820	M370V	probably benign	Het
Olfm5	T	A	7: 104,153,892	N455Y	probably damaging	Het
Olfr1080	T	A	2: 86,553,677	Y149F	probably damaging	Het
Olfr1188	T	A	2: 88,559,519	F6I	probably damaging	Het
Olfr130	T	C	17: 38,067,288	V39A	probably benign	Het
Olfr150	G	A	9: 39,737,590	M258I	probably benign	Het
Olfr596	T	C	7: 103,309,979	I86T	probably damaging	Het
Pcdhac2	T	C	18: 37,144,705	V246A	probably damaging	Het
Pclo	A	T	5: 14,713,178	Q603H		Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pkhd1	T	A	1: 20,502,952	Q1910L	probably damaging	Het
Plg	C	A	17: 12,390,220	Y137*	probably null	Het
Prkra	T	C	2: 76,630,512	I281V	probably benign	Het
Prrc2c	A	C	1: 162,675,726	L2722R	possibly damaging	Het
Prss12	A	G	3: 123,485,500	T409A	probably damaging	Het
Rnaseh1	A	G	12: 28,658,291	Q256R	probably benign	Het
Rpp14	T	A	14: 8,083,772	Y17N	possibly damaging	Het
Ryr1	A	T	7: 29,090,997	H1468Q	probably damaging	Het
Scp2	C	T	4: 108,055,520	V463M	probably damaging	Het
Sf3b4	C	A	3: 96,173,065	H43Q	probably damaging	Het
Sgpp1	T	C	12: 75,735,464	S34G	probably benign	Het
Shisa9	T	A	16: 11,985,038	I153N	probably damaging	Het
Sin3b	C	A	8: 72,723,464	P3H	unknown	Het
Slc15a2	C	A	16: 36,782,357	K47N	possibly damaging	Het
Slc30a6	T	A	17: 74,419,591	F297L	probably benign	Het
Slc45a3	TGGGG	TGGGGG	1: 131,981,449		probably null	Het
Slfn4	A	T	11: 83,186,650	D88V	probably benign	Het
Tgs1	C	A	4: 3,593,491	Q460K	probably benign	Het
Tlr11	A	T	14: 50,360,977	D140V	probably benign	Het
Tmem215	T	A	4: 40,473,945	N7K	probably damaging	Het
Tmem245	T	C	4: 56,922,384		probably benign	Het
Tnfsf10	G	A	3: 27,335,230	D147N	probably benign	Het
Tpm1	A	G	9: 67,047,856	L57P	possibly damaging	Het
Trappc10	T	C	10: 78,207,889		probably benign	Het
Ttc30b	T	C	2: 75,937,252	T386A	probably benign	Het
Ttn	T	C	2: 76,762,717	T20730A	possibly damaging	Het
Uap1	A	T	1: 170,149,444	Y395*	probably null	Het
Usp2	A	T	9: 44,075,879	D158V	probably damaging	Het
Usp30	A	G	5: 114,105,816	M149V	probably benign	Het
Vmn2r2	T	C	3: 64,116,751	N803S	probably damaging	Het
Vmn2r85	A	G	10: 130,425,610	V286A	probably benign	Het
Xdh	T	C	17: 73,910,227	H682R	probably benign	Het
Zbed3	T	A	13: 95,336,491	L141Q	probably damaging	Het
Zfp623	T	C	15: 75,948,313	C373R	possibly damaging	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
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
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'- ATCTCCTCGAGGTACGGAAC -3'
(R):5'- TACTCTGAATTTGGAAAGACCCTAGG -3'

Sequencing Primer
(F):5'- GGAACGCACATCCATAACATG -3'
(R):5'- ACCCTCTGATCGTGAATG -3'

Posted On

2021-11-19