Mutagenetix > Incidental Mutation

Incidental Mutation 'R3115:Wdr91'

263966

Institutional Source

Beutler Lab

Gene Symbol

Wdr91

Ensembl Gene

ENSMUSG00000058486

Gene Name

WD repeat domain 91

Synonyms

9530020G05Rik

MMRRC Submission

040588-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.165) question?

Stock #

R3115 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34857361-34887766 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34882522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 209 (L209P)

Ref Sequence

ENSEMBL: ENSMUSP00000138406 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081214] [ENSMUST00000133336] [ENSMUST00000146968] [ENSMUST00000149448] [ENSMUST00000152488]

AlphaFold

Q7TMQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000081214
AA Change: L209P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000079974
Gene: ENSMUSG00000058486
AA Change: L209P

Domain	Start	End	E-Value	Type
Blast:LisH	5	36	3e-6	BLAST
coiled coil region	179	228	N/A	INTRINSIC
low complexity region	263	279	N/A	INTRINSIC
WD40	393	437	6.34e-2	SMART
WD40	442	480	3.42e1	SMART
Blast:WD40	483	525	1e-19	BLAST
WD40	552	591	1.88e-4	SMART
WD40	594	633	3.96e-3	SMART
WD40	701	742	8.59e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133336

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134830

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145765

Predicted Effect

probably damaging
Transcript: ENSMUST00000146968
AA Change: L209P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138406
Gene: ENSMUSG00000058486
AA Change: L209P

Domain	Start	End	E-Value	Type
Blast:LisH	5	36	2e-6	BLAST
coiled coil region	179	228	N/A	INTRINSIC
low complexity region	263	279	N/A	INTRINSIC
WD40	393	437	6.34e-2	SMART
WD40	442	480	3.42e1	SMART
Blast:WD40	483	525	1e-19	BLAST
WD40	552	591	1.48e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149448
AA Change: L157P

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120164
Gene: ENSMUSG00000058486
AA Change: L157P

Domain	Start	End	E-Value	Type
coiled coil region	127	176	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152488

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201569

Meta Mutation Damage Score

0.0766

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

96% (47/49)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	G	8: 87,266,653 (GRCm39)		probably null	Het
Abcc9	T	C	6: 142,634,755 (GRCm39)	T170A	probably benign	Het
Agbl2	T	C	2: 90,636,245 (GRCm39)	S594P	possibly damaging	Het
Aoc1l3	A	G	6: 48,964,331 (GRCm39)	Y113C	probably damaging	Het
Atf7	C	T	15: 102,442,858 (GRCm39)	S417N	probably benign	Het
Cacng7	T	C	7: 3,387,450 (GRCm39)	V111A	probably benign	Het
Chrm4	A	G	2: 91,757,705 (GRCm39)	T38A	probably benign	Het
Cnot1	T	C	8: 96,470,906 (GRCm39)	E1314G	possibly damaging	Het
Dcx	A	G	X: 142,706,105 (GRCm39)	Y229H	probably damaging	Het
Espl1	T	A	15: 102,231,639 (GRCm39)	F1945Y	possibly damaging	Het
Glul	T	C	1: 153,783,038 (GRCm39)	F204L	possibly damaging	Het
Grm2	A	G	9: 106,524,822 (GRCm39)	V631A	probably damaging	Het
Ifi205	T	A	1: 173,855,901 (GRCm39)	Y43F	possibly damaging	Het
Irs3	A	G	5: 137,642,118 (GRCm39)	L440P	probably benign	Het
Itpr1	A	G	6: 108,383,070 (GRCm39)	D1466G	possibly damaging	Het
Jarid2	T	C	13: 45,049,942 (GRCm39)	S257P	probably damaging	Het
Knl1	C	A	2: 118,900,872 (GRCm39)	L858M	possibly damaging	Het
Krt24	T	A	11: 99,173,262 (GRCm39)	T298S	possibly damaging	Het
Lrriq1	C	T	10: 103,006,294 (GRCm39)	R1277Q	probably benign	Het
Mgp	A	C	6: 136,849,683 (GRCm39)	Y92D	probably damaging	Het
Micu3	A	G	8: 40,835,208 (GRCm39)	H521R	probably benign	Het
Mier3	T	A	13: 111,843,182 (GRCm39)	I178N	probably damaging	Het
Moxd1	G	T	10: 24,177,429 (GRCm39)	E582*	probably null	Het
Mprip	T	A	11: 59,656,229 (GRCm39)		probably null	Het
Mybph	A	G	1: 134,122,476 (GRCm39)	I174V	probably benign	Het
Mynn	C	T	3: 30,661,959 (GRCm39)	T347M	probably damaging	Het
Nhsl1	A	T	10: 18,400,916 (GRCm39)	Q714L	probably damaging	Het
Nr1d2	A	T	14: 18,215,504 (GRCm38)		probably null	Het
Or10g3	T	C	14: 52,610,397 (GRCm39)	T38A	probably damaging	Het
Or2a5	T	C	6: 42,873,784 (GRCm39)	V133A	probably benign	Het
Or52h9	C	A	7: 104,202,295 (GRCm39)	H56Q	probably benign	Het
Or5p61	T	C	7: 107,759,029 (GRCm39)	E17G	probably benign	Het
Pcdha4	T	C	18: 37,086,603 (GRCm39)	V262A	probably benign	Het
Pde4d	T	A	13: 110,084,792 (GRCm39)	M519K	probably damaging	Het
Phactr2	C	A	10: 13,137,645 (GRCm39)	E166*	probably null	Het
Prdx4	C	T	X: 154,113,407 (GRCm39)	R167Q	probably damaging	Het
Prkdc	C	T	16: 15,482,222 (GRCm39)	L422F	probably benign	Het
Prph	T	A	15: 98,953,337 (GRCm39)	F84I	probably damaging	Het
Rnmt	A	G	18: 68,447,079 (GRCm39)	E321G	probably benign	Het
Serpinb13	A	T	1: 106,910,568 (GRCm39)	E64V	probably null	Het
Slc12a4	A	T	8: 106,686,091 (GRCm39)	S81T	probably damaging	Het
Slc47a1	A	G	11: 61,258,506 (GRCm39)	L179P	possibly damaging	Het
Sp140l2	C	G	1: 85,235,106 (GRCm39)		probably benign	Het
Spata31e5	A	C	1: 28,815,410 (GRCm39)	V874G	possibly damaging	Het
Sycp2l	C	A	13: 41,302,274 (GRCm39)	T456K	probably benign	Het
Tenm2	A	G	11: 35,914,193 (GRCm39)	L2447P	probably damaging	Het
Tll1	A	G	8: 64,506,900 (GRCm39)	C614R	probably damaging	Het
Usp5	T	C	6: 124,792,560 (GRCm39)	Y826C	probably damaging	Het
Vmn2r71	A	C	7: 85,272,866 (GRCm39)	D560A	probably damaging	Het
Zfp511	T	A	7: 139,616,504 (GRCm39)	D46E	probably benign	Het
Zfp81	C	T	17: 33,553,537 (GRCm39)	A426T	possibly damaging	Het
Zscan22	T	C	7: 12,641,217 (GRCm39)	I328T	probably benign	Het

Other mutations in Wdr91

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01336:Wdr91	APN	6	34,886,478 (GRCm39)	splice site	probably benign
IGL01340:Wdr91	APN	6	34,881,514 (GRCm39)	missense	probably benign	0.00
IGL01402:Wdr91	APN	6	34,865,998 (GRCm39)	missense	probably benign
IGL02632:Wdr91	APN	6	34,865,977 (GRCm39)	missense	probably damaging	1.00
IGL03104:Wdr91	APN	6	34,882,491 (GRCm39)	missense	probably benign	0.00
IGL03169:Wdr91	APN	6	34,882,426 (GRCm39)	missense	possibly damaging	0.93
R0080:Wdr91	UTSW	6	34,883,620 (GRCm39)	missense	possibly damaging	0.81
R0082:Wdr91	UTSW	6	34,883,620 (GRCm39)	missense	possibly damaging	0.81
R0422:Wdr91	UTSW	6	34,857,781 (GRCm39)	missense	probably damaging	1.00
R1738:Wdr91	UTSW	6	34,861,243 (GRCm39)	missense	probably damaging	1.00
R1993:Wdr91	UTSW	6	34,869,297 (GRCm39)	missense	probably damaging	1.00
R1994:Wdr91	UTSW	6	34,869,297 (GRCm39)	missense	probably damaging	1.00
R3116:Wdr91	UTSW	6	34,882,522 (GRCm39)	missense	probably damaging	0.98
R4261:Wdr91	UTSW	6	34,881,457 (GRCm39)	missense	possibly damaging	0.84
R4760:Wdr91	UTSW	6	34,885,234 (GRCm39)	missense	probably damaging	0.96
R4977:Wdr91	UTSW	6	34,887,726 (GRCm39)	missense	probably damaging	1.00
R5093:Wdr91	UTSW	6	34,869,288 (GRCm39)	missense	probably damaging	1.00
R5910:Wdr91	UTSW	6	34,868,422 (GRCm39)	missense	possibly damaging	0.93
R6788:Wdr91	UTSW	6	34,863,754 (GRCm39)	missense	probably damaging	0.99
R7139:Wdr91	UTSW	6	34,885,198 (GRCm39)	missense	possibly damaging	0.82
R7195:Wdr91	UTSW	6	34,866,209 (GRCm39)	missense	possibly damaging	0.70
R7268:Wdr91	UTSW	6	34,869,375 (GRCm39)	missense	probably benign
R7303:Wdr91	UTSW	6	34,861,258 (GRCm39)	missense	probably benign	0.01
R7326:Wdr91	UTSW	6	34,881,561 (GRCm39)	missense	probably damaging	0.99
R7341:Wdr91	UTSW	6	34,868,395 (GRCm39)	missense	possibly damaging	0.49
R7362:Wdr91	UTSW	6	34,866,050 (GRCm39)	missense	possibly damaging	0.50
R8098:Wdr91	UTSW	6	34,863,817 (GRCm39)	missense	possibly damaging	0.67
R9424:Wdr91	UTSW	6	34,861,302 (GRCm39)	missense	possibly damaging	0.64
R9664:Wdr91	UTSW	6	34,865,961 (GRCm39)	missense	probably benign	0.01
X0026:Wdr91	UTSW	6	34,886,307 (GRCm39)	missense	probably benign	0.03
Z1177:Wdr91	UTSW	6	34,868,435 (GRCm39)	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- TTCCCCATCCAGGAGAGAAC -3'
(R):5'- AACCCACAGTGATTTTGGGTGTC -3'

Sequencing Primer
(F):5'- TGGGACCTCACACATATGG -3'
(R):5'- GCCTTTTTAACTCATTATTAGCTGTC -3'

Posted On

2015-02-05