Mutagenetix > Incidental Mutation

Incidental Mutation 'R6813:Wdr78'

533931

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 #

R6813 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103038065-103114555 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103048326 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 753 (K753E)

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 benign
Transcript: ENSMUST00000106868
AA Change: K753E

PolyPhen 2 Score 0.263 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102481
Gene: ENSMUSG00000035126
AA Change: K753E

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: 99.9%
3x: 99.8%
10x: 98.9%
20x: 96.9%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,229,282	N2337K	probably benign	Het
Adgrb2	C	A	4: 130,009,491	Q603K	probably damaging	Het
Adgrf3	A	G	5: 30,197,521	F503S	probably damaging	Het
Arfgap3	A	T	15: 83,330,593	M164K	probably benign	Het
Asb13	G	T	13: 3,645,029	V166F	probably damaging	Het
Atm	T	G	9: 53,497,235	R1103S	probably benign	Het
Atxn7l1	T	C	12: 33,367,124	I626T	probably damaging	Het
Brsk2	A	G	7: 142,002,477	I649V	probably benign	Het
Ccdc25	T	A	14: 65,856,433	M85K	probably benign	Het
Cdc42bpb	A	G	12: 111,327,615	V231A	probably damaging	Het
Clstn3	T	A	6: 124,436,935	M767L	probably benign	Het
Col6a6	C	T	9: 105,783,941	R323K	probably benign	Het
Creld1	A	G	6: 113,489,569	Y199C	probably damaging	Het
Csf1r	T	A	18: 61,112,734	D254E	probably benign	Het
Dab2ip	C	T	2: 35,730,473	Q1118*	probably null	Het
Dcun1d4	C	A	5: 73,520,957	S98R	possibly damaging	Het
Disp3	G	A	4: 148,259,930	P505L	probably benign	Het
Dlec1	A	T	9: 119,112,102	Q240L	probably benign	Het
Edil3	T	A	13: 89,289,456	I392N	probably damaging	Het
Epha10	T	A	4: 124,902,693	S398R		Het
Ephb1	A	G	9: 102,010,048	I464T	possibly damaging	Het
Eps15	T	A	4: 109,280,402		probably null	Het
Fam111a	T	A	19: 12,587,342	C152S	probably damaging	Het
Flt3	T	C	5: 147,354,843	E599G	probably damaging	Het
Frmd3	T	C	4: 74,159,245	S259P	probably benign	Het
Gm15922	T	C	7: 3,736,003	H535R	probably benign	Het
Gm30302	T	A	13: 49,787,396	R279S	probably benign	Het
Hsfy2	A	G	1: 56,636,302	Y359H	possibly damaging	Het
Ifih1	C	T	2: 62,645,693	V80M	possibly damaging	Het
Il12rb2	A	C	6: 67,292,374	D818E	probably damaging	Het
Il4i1	A	G	7: 44,839,812	T334A	probably benign	Het
Irs2	G	A	8: 11,004,659	Q1258*	probably null	Het
Lsm1	T	G	8: 25,793,693	H44Q	probably benign	Het
Mgam	A	T	6: 40,750,165	M1257L	probably damaging	Het
Myc	T	C	15: 61,988,152	S225P	probably damaging	Het
Myh1	T	C	11: 67,220,460	V1575A	probably benign	Het
Myo9b	A	G	8: 71,323,305	D380G	probably damaging	Het
Ncoa7	T	A	10: 30,696,192	D157V	probably damaging	Het
Olfr314	G	T	11: 58,786,646	Q137H	probably benign	Het
Olfr828	G	A	9: 18,815,892	T134M	probably benign	Het
Olfr877	A	C	9: 37,855,514	E232A	possibly damaging	Het
Olfr883	T	C	9: 38,025,833	V9A	probably damaging	Het
Olfr980	T	A	9: 40,006,457	H164L	probably benign	Het
Pccb	A	G	9: 101,023,215	V117A	probably damaging	Het
Pdp2	C	T	8: 104,594,499	H327Y	probably damaging	Het
Pdzph1	G	T	17: 58,974,436	Q284K	probably benign	Het
Phka2	G	A	X: 160,533,048	V230I	probably damaging	Het
Phldb1	A	T	9: 44,699,568	S751R	probably damaging	Het
Ppp1r1b	T	A	11: 98,349,176		probably null	Het
Ppp1r3a	A	G	6: 14,719,571	V448A	probably benign	Het
Pvrig	A	T	5: 138,342,050	T28S	probably benign	Het
Rasgrf1	G	A	9: 90,010,484		probably null	Het
Scnn1g	T	C	7: 121,740,353	L125S	probably damaging	Het
Slc30a7	A	T	3: 115,981,811	D221E	probably benign	Het
Tmem30c	A	G	16: 57,281,259		probably null	Het
Tmem33	T	C	5: 67,264,459		probably null	Het
Ttc29	A	T	8: 78,333,620	T390S	probably benign	Het
Vamp5	G	A	6: 72,380,441		probably benign	Het
Vmn2r81	T	A	10: 79,268,605	F354Y	probably benign	Het
Vmn2r96	A	G	17: 18,581,854	H119R	probably benign	Het
Wdr3	G	A	3: 100,138,725	R931*	probably null	Het
Wtap	A	T	17: 12,967,510	N383K	probably damaging	Het
Zfp808	T	C	13: 62,173,035	Y693H	probably 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
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

Predicted Primers

PCR Primer
(F):5'- ACACCTCATCTCCTCGAGGTAC -3'
(R):5'- TCTGAATTTGGAAAGACCCTAGGAG -3'

Sequencing Primer
(F):5'- TCATCTCCTCGAGGTACGGAAC -3'
(R):5'- AAGACAATGTTAGTGTGACA -3'

Posted On

2018-09-12