Mutagenetix > Incidental Mutation

Incidental Mutation 'R4951:Wdr27'

382014

Institutional Source

Beutler Lab

Gene Symbol

Wdr27

Ensembl Gene

ENSMUSG00000046991

Gene Name

WD repeat domain 27

Synonyms

0610012K18Rik

MMRRC Submission

042548-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R4951 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

14818519-14943158 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14876133 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 796 (D796E)

Ref Sequence

ENSEMBL: ENSMUSP00000155992 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170386] [ENSMUST00000228330] [ENSMUST00000232147]

AlphaFold

Q8C5V5

Predicted Effect

probably benign
Transcript: ENSMUST00000170386
AA Change: I762K

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000126736
Gene: ENSMUSG00000046991
AA Change: I762K

Domain	Start	End	E-Value	Type
WD40	59	99	4.79e-1	SMART
WD40	114	149	6.36e1	SMART
WD40	152	192	3.93e-7	SMART
WD40	195	235	2.38e1	SMART
low complexity region	473	492	N/A	INTRINSIC
WD40	498	539	1.48e1	SMART
WD40	542	581	5.26e-8	SMART
WD40	642	684	2.97e0	SMART
WD40	687	737	7.64e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228233

Predicted Effect

probably benign
Transcript: ENSMUST00000228330
AA Change: I762K

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

Predicted Effect

probably damaging
Transcript: ENSMUST00000232147
AA Change: D796E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.1%

Validation Efficiency

98% (94/96)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with multiple WD repeats. Proteins with these repeats may form scaffolds for protein-protein interaction and play key roles in cell signalling. Alternative splicing results in multiple transcript variants, but the full-length structure of some of these variants cannot be determined. [provided by RefSeq, Nov 2015]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230110F15Rik	A	G	9: 35,839,436	V30A	probably damaging	Het
Adcy1	G	A	11: 7,138,336	E452K	possibly damaging	Het
Adcy10	T	C	1: 165,563,963	L1263P	probably damaging	Het
Adgrg1	G	A	8: 95,005,246	V179M	probably damaging	Het
Agap1	T	A	1: 89,609,503	V77E	probably damaging	Het
Ahnak	A	T	19: 9,017,835	K5494N	probably damaging	Het
Arhgap19	A	G	19: 41,774,106	M437T	probably benign	Het
C2cd4c	C	A	10: 79,613,005	A103S	possibly damaging	Het
Clip1	A	T	5: 123,630,345	D776E	probably benign	Het
Cntn3	C	T	6: 102,169,025	V952M	possibly damaging	Het
Col6a6	A	G	9: 105,767,198		probably null	Het
Crtac1	C	T	19: 42,414,131	A13T	probably benign	Het
Ddx50	C	T	10: 62,634,120	A363T	probably damaging	Het
Dock9	A	G	14: 121,653,135	V241A	probably benign	Het
Dysf	T	C	6: 84,114,120		probably null	Het
Enpp3	A	T	10: 24,798,277	M375K	probably damaging	Het
Fam13c	G	A	10: 70,551,791		probably null	Het
Ftcd	C	T	10: 76,584,683	A417V	probably benign	Het
Gak	A	G	5: 108,582,718	S941P	probably benign	Het
Ganc	A	G	2: 120,456,047	T786A	probably benign	Het
Gfi1	A	C	5: 107,720,143	S420A	probably damaging	Het
Ghsr	A	T	3: 27,372,361	T189S	possibly damaging	Het
Glb1l	C	T	1: 75,208,375	G122D	probably damaging	Het
Gm10065	C	T	13: 21,479,251	S64N	unknown	Het
Gm5087	C	A	14: 13,158,749		noncoding transcript	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gm973	G	A	1: 59,541,474		probably null	Het
Gm9930	A	T	10: 9,534,705		noncoding transcript	Het
H6pd	A	T	4: 149,981,587	Y781N	probably damaging	Het
Ide	G	A	19: 37,285,232	L695F	unknown	Het
Il17re	T	A	6: 113,468,907	V393E	probably damaging	Het
Lipo1	A	G	19: 33,782,221	V205A	probably benign	Het
Lipo5	C	T	19: 33,468,851	E49K	probably damaging	Het
Lonp1	A	T	17: 56,620,335	M306K	possibly damaging	Het
Lrig1	A	G	6: 94,663,978	L82P	probably damaging	Het
Lrp2	A	T	2: 69,535,988	C256S	probably damaging	Het
Map1b	A	T	13: 99,432,427	I1262K	unknown	Het
Mctp1	C	T	13: 76,827,775	P756S	probably damaging	Het
Mdn1	T	A	4: 32,707,459	W1583R	probably damaging	Het
Mis12	T	A	11: 71,025,647	Y169N	probably benign	Het
Msh5	G	A	17: 35,038,420	Q333*	probably null	Het
Necap2	A	T	4: 141,072,523		probably null	Het
Nfatc2	T	C	2: 168,571,072	D211G	probably damaging	Het
Nlrx1	A	G	9: 44,253,429	V906A	possibly damaging	Het
Olfr1239	T	A	2: 89,417,772	I214F	probably benign	Het
Olfr1456-ps1	A	T	19: 13,079,256		noncoding transcript	Het
Olfr320	G	A	11: 58,684,763	V297I	probably damaging	Het
Olfr723	A	T	14: 49,929,058	L162*	probably null	Het
Olfr938	A	G	9: 39,078,259	F162S	probably benign	Het
Pkhd1l1	T	A	15: 44,533,891	N2057K	possibly damaging	Het
Ppip5k2	T	C	1: 97,711,749	K1078R	possibly damaging	Het
Prdm11	A	G	2: 92,980,609	I215T	probably damaging	Het
Ptpn13	C	T	5: 103,588,046	P2137L	probably benign	Het
Rif1	T	A	2: 52,084,986		probably null	Het
Rnf17	T	C	14: 56,522,391	V1551A	probably benign	Het
Ror2	C	T	13: 53,117,147	V391I	probably benign	Het
Rps6ka2	A	T	17: 7,292,789	D542V	probably damaging	Het
Sema4g	A	G	19: 44,996,571		probably null	Het
Serpinb6d	T	G	13: 33,666,383	S64R	probably benign	Het
Serpine1	C	T	5: 137,069,351	R156K	probably benign	Het
Setdb2	A	G	14: 59,402,303	I713T	possibly damaging	Het
Slamf7	A	G	1: 171,639,125	F171L	probably benign	Het
Slc15a5	A	G	6: 138,073,066	L117S	probably damaging	Het
Slc8a3	T	A	12: 81,314,699	T449S	probably benign	Het
Slc8a3	T	A	12: 81,315,986	T20S	probably damaging	Het
Smc2	G	A	4: 52,462,926	V639M	possibly damaging	Het
Sra1	A	T	18: 36,676,441	C223*	probably null	Het
Srgap1	A	T	10: 121,785,552	M1012K	probably benign	Het
Stk-ps2	A	T	1: 46,029,442		noncoding transcript	Het
Taar6	A	T	10: 23,985,208	S147T	probably benign	Het
Taf15	G	A	11: 83,484,811	G34D	possibly damaging	Het
Tarbp1	T	C	8: 126,447,445	E874G	possibly damaging	Het
Tob2	T	C	15: 81,851,723	Y15C	probably damaging	Het
Trim12a	A	G	7: 104,304,358	V182A	possibly damaging	Het
Trim67	A	G	8: 124,794,667	E256G	probably benign	Het
Trrap	T	A	5: 144,805,720	S1382T	possibly damaging	Het
Ttc39d	T	A	17: 80,216,033	S40R	probably benign	Het
Ttn	A	T	2: 76,949,062	V1158E	probably benign	Het
Vmn1r19	C	T	6: 57,404,942	T160I	probably benign	Het
Vmn2r100	T	C	17: 19,532,038	I781T	probably benign	Het
Vmn2r85	T	C	10: 130,425,244	E408G	probably damaging	Het
Vwde	T	C	6: 13,187,139	D783G	probably damaging	Het
Zfp365	C	T	10: 67,889,991		probably null	Het
Zfp9	T	G	6: 118,464,447	H418P	probably damaging	Het

Other mutations in Wdr27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Wdr27	APN	17	14928310	nonsense	probably null
IGL00973:Wdr27	APN	17	14913878	missense	probably benign	0.01
IGL01012:Wdr27	APN	17	14926247	missense	probably damaging	1.00
IGL01924:Wdr27	APN	17	14917226	missense	probably damaging	0.99
IGL02044:Wdr27	APN	17	14901769	missense	possibly damaging	0.72
IGL02198:Wdr27	APN	17	14908598	missense	possibly damaging	0.52
IGL02430:Wdr27	APN	17	14901800	missense	probably damaging	0.98
IGL02496:Wdr27	APN	17	14892431	splice site	probably benign
IGL02552:Wdr27	APN	17	14926191	missense	probably damaging	1.00
IGL02590:Wdr27	APN	17	14917779	missense	possibly damaging	0.93
IGL02892:Wdr27	APN	17	14876176	missense	possibly damaging	0.95
IGL02957:Wdr27	APN	17	14910110	splice site	probably benign
IGL03295:Wdr27	APN	17	14934575	missense	possibly damaging	0.71
PIT4498001:Wdr27	UTSW	17	14934569	missense	probably benign	0.01
R0329:Wdr27	UTSW	17	14934459	splice site	probably benign
R0671:Wdr27	UTSW	17	14928396	missense	probably benign	0.04
R1166:Wdr27	UTSW	17	14892471	missense	probably damaging	1.00
R1308:Wdr27	UTSW	17	14928384	missense	probably damaging	0.98
R1652:Wdr27	UTSW	17	14917270	missense	probably benign	0.01
R1771:Wdr27	UTSW	17	14892441	missense	probably damaging	1.00
R1966:Wdr27	UTSW	17	14934599	missense	possibly damaging	0.86
R2106:Wdr27	UTSW	17	14920854	missense	probably benign	0.44
R2131:Wdr27	UTSW	17	14928332	missense	probably damaging	1.00
R3803:Wdr27	UTSW	17	14918109	missense	probably benign	0.01
R4335:Wdr27	UTSW	17	14920756	splice site	probably null
R4577:Wdr27	UTSW	17	14903462	missense	probably benign	0.00
R4787:Wdr27	UTSW	17	14932554	missense	possibly damaging	0.86
R4853:Wdr27	UTSW	17	14917213	splice site	probably null
R4922:Wdr27	UTSW	17	14920754	splice site	probably null
R5784:Wdr27	UTSW	17	14926233	missense	probably damaging	1.00
R5809:Wdr27	UTSW	17	14883669	missense	probably damaging	1.00
R6128:Wdr27	UTSW	17	14932534	nonsense	probably null
R6584:Wdr27	UTSW	17	14901769	missense	probably damaging	1.00
R6705:Wdr27	UTSW	17	14934590	missense	probably damaging	1.00
R7511:Wdr27	UTSW	17	14883703	missense	probably benign	0.00
R8273:Wdr27	UTSW	17	14829576	missense	probably benign
R8350:Wdr27	UTSW	17	14932525	missense	probably benign
R8353:Wdr27	UTSW	17	14892489	missense	probably benign	0.08
R8450:Wdr27	UTSW	17	14932525	missense	probably benign
R8453:Wdr27	UTSW	17	14892489	missense	probably benign	0.08
R8535:Wdr27	UTSW	17	14903537	missense	possibly damaging	0.88
R8735:Wdr27	UTSW	17	14883667	missense	probably damaging	1.00
R8960:Wdr27	UTSW	17	14883646	missense	probably benign	0.01
R9120:Wdr27	UTSW	17	14932584	missense	probably damaging	1.00
R9183:Wdr27	UTSW	17	14928389	missense	possibly damaging	0.50
R9351:Wdr27	UTSW	17	14908571	missense	possibly damaging	0.52
R9373:Wdr27	UTSW	17	14934533	missense	probably benign	0.00
R9389:Wdr27	UTSW	17	14891718	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- CTGCTCACACTGGGAGATAG -3'
(R):5'- AAGTTCTGTCACTTGGCTGGC -3'

Sequencing Primer
(F):5'- TGGGAACTGGAGAAGCCCTC -3'
(R):5'- CACCATGTCAGTCTTGTTAGATG -3'

Posted On

2016-04-27