Mutagenetix > Incidental Mutation

Incidental Mutation 'R9475:Wdr17'

715708

Institutional Source

Beutler Lab

Gene Symbol

Wdr17

Ensembl Gene

ENSMUSG00000039375

Gene Name

WD repeat domain 17

Synonyms

B230207L18Rik, 3010002I12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9475 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55082316-55180014 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55088512 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1186 (D1186E)

Ref Sequence

ENSEMBL: ENSMUSP00000117710 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000127511] [ENSMUST00000144711] [ENSMUST00000150488] [ENSMUST00000175915]

AlphaFold

E9Q271

Predicted Effect

probably benign
Transcript: ENSMUST00000127511
AA Change: D1211E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000115550
Gene: ENSMUSG00000039375
AA Change: D1211E

Domain	Start	End	E-Value	Type
WD40	72	112	8.55e-8	SMART
WD40	162	202	1.58e2	SMART
WD40	205	252	4.26e1	SMART
WD40	255	298	1.15e0	SMART
WD40	383	422	1.59e-7	SMART
WD40	425	465	2.39e0	SMART
WD40	468	509	5.52e-2	SMART
WD40	511	550	4.14e-6	SMART
WD40	555	595	5.14e-11	SMART
WD40	598	638	6.58e-9	SMART
WD40	641	681	6.28e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144711
AA Change: D1186E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000117710
Gene: ENSMUSG00000039375
AA Change: D1186E

Domain	Start	End	E-Value	Type
WD40	72	112	8.55e-8	SMART
WD40	194	235	7.64e1	SMART
WD40	238	281	1.15e0	SMART
WD40	366	405	1.59e-7	SMART
WD40	408	448	2.39e0	SMART
WD40	451	492	5.52e-2	SMART
WD40	494	533	4.14e-6	SMART
WD40	538	578	5.14e-11	SMART
WD40	581	621	6.58e-9	SMART
WD40	624	664	6.28e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000150488
AA Change: D1179E

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000122326
Gene: ENSMUSG00000039375
AA Change: D1179E

Domain	Start	End	E-Value	Type
WD40	48	88	8.55e-8	SMART
WD40	138	178	1.58e2	SMART
WD40	181	228	4.26e1	SMART
WD40	231	274	1.15e0	SMART
WD40	359	398	1.59e-7	SMART
WD40	401	441	2.39e0	SMART
WD40	444	485	5.52e-2	SMART
WD40	487	526	4.14e-6	SMART
WD40	531	571	5.14e-11	SMART
WD40	574	614	6.58e-9	SMART
WD40	617	657	6.28e-6	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000175915
AA Change: D1172E

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000135805
Gene: ENSMUSG00000039375
AA Change: D1172E

Domain	Start	End	E-Value	Type
WD40	48	88	8.55e-8	SMART
WD40	138	178	1.58e2	SMART
WD40	181	228	4.26e1	SMART
WD40	231	274	1.15e0	SMART
WD40	359	398	1.59e-7	SMART
WD40	401	441	2.39e0	SMART
WD40	444	485	5.52e-2	SMART
WD40	487	526	4.14e-6	SMART
WD40	531	571	5.14e-11	SMART
WD40	574	614	6.58e-9	SMART
WD40	617	657	6.28e-6	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a WD repeat-containing protein. It is abundantly expressed in retina and testis, and is thought to be a candidate gene for retinal disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2009]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	A	T	7: 45,665,892 (GRCm39)	W243R	probably damaging	Het
Ablim1	T	G	19: 57,227,612 (GRCm39)	K18Q	probably benign	Het
Adamts18	T	A	8: 114,504,570 (GRCm39)	N174Y	possibly damaging	Het
Afg2a	T	C	3: 37,486,058 (GRCm39)	V260A	probably benign	Het
Agbl2	A	G	2: 90,614,437 (GRCm39)	H23R	probably benign	Het
Akap6	T	G	12: 53,057,335 (GRCm39)	Y934D	probably damaging	Het
Alas1	C	T	9: 106,111,261 (GRCm39)	S635N	probably benign	Het
Ankrd24	A	G	10: 81,478,133 (GRCm39)		probably null	Het
Atp6v0a4	A	G	6: 38,037,917 (GRCm39)	L560P	probably damaging	Het
Cacng1	C	T	11: 107,607,118 (GRCm39)	V34M	possibly damaging	Het
Clcn3	C	T	8: 61,387,551 (GRCm39)	A233T	probably damaging	Het
Cntnap3	A	G	13: 64,946,949 (GRCm39)	F160S	probably damaging	Het
Ctnnd2	A	G	15: 30,881,276 (GRCm39)	S719G	probably damaging	Het
Exosc2	G	A	2: 31,564,755 (GRCm39)	V107I	probably benign	Het
Fam83b	C	A	9: 76,399,085 (GRCm39)	V673F	probably benign	Het
Fras1	T	C	5: 96,927,929 (GRCm39)	F3781L	probably damaging	Het
Gal3st1	T	A	11: 3,948,660 (GRCm39)	L289H	probably damaging	Het
Garem1	T	C	18: 21,281,370 (GRCm39)	I329V	probably benign	Het
Gli3	G	A	13: 15,900,296 (GRCm39)	G1228S	possibly damaging	Het
Gpbp1l1	T	C	4: 116,431,558 (GRCm39)	F72S	possibly damaging	Het
Hao1	T	A	2: 134,390,181 (GRCm39)	M53L	probably benign	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Iqcm	A	G	8: 76,480,083 (GRCm39)	E347G	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcnrg	A	G	14: 61,845,106 (GRCm39)	I49V	possibly damaging	Het
Lrrc8e	G	A	8: 4,285,346 (GRCm39)	G524S	probably benign	Het
Lrrn1	A	T	6: 107,545,261 (GRCm39)	Y353F	probably damaging	Het
Mdn1	A	G	4: 32,739,849 (GRCm39)	D3701G	possibly damaging	Het
Mtmr2	A	G	9: 13,716,767 (GRCm39)	T623A	probably benign	Het
Ndst4	C	A	3: 125,508,296 (GRCm39)	S287*	probably null	Het
Ntrk3	A	C	7: 77,952,480 (GRCm39)	M579R	probably benign	Het
Oas1a	G	A	5: 121,037,317 (GRCm39)	L237F	probably damaging	Het
Or2aj4	T	C	16: 19,385,270 (GRCm39)	D121G	probably benign	Het
Or5bw2	A	T	7: 6,573,818 (GRCm39)	Y276F	probably damaging	Het
Or7e166	T	C	9: 19,624,939 (GRCm39)	M272T	probably benign	Het
Paqr5	T	A	9: 61,863,507 (GRCm39)	I272F	probably damaging	Het
Pcdha11	T	A	18: 37,140,591 (GRCm39)	V740E	probably damaging	Het
Pdgfra	A	C	5: 75,328,588 (GRCm39)	N240T	possibly damaging	Het
Plbd2	G	A	5: 120,632,445 (GRCm39)	Q186*	probably null	Het
Plce1	G	A	19: 38,766,337 (GRCm39)	E2121K	possibly damaging	Het
Ppargc1a	C	A	5: 51,653,080 (GRCm39)	G161C	probably damaging	Het
Ptprk	T	C	10: 28,210,476 (GRCm39)	I166T	possibly damaging	Het
Rhox8	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	X: 36,966,991 (GRCm39)		probably benign	Het
Rpap2	T	A	5: 107,768,455 (GRCm39)	L431Q	probably damaging	Het
Rslcan18	T	A	13: 67,250,128 (GRCm39)	K160*	probably null	Het
Sema7a	T	C	9: 57,862,188 (GRCm39)	F180L	probably benign	Het
Sh2d3c	C	T	2: 32,643,039 (GRCm39)	L741F	probably damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Skic2	A	T	17: 35,060,078 (GRCm39)	D897E	probably benign	Het
Skint6	C	T	4: 112,664,037 (GRCm39)		probably null	Het
Slc35f3	T	C	8: 127,108,993 (GRCm39)	S181P	probably damaging	Het
Slc4a9	A	T	18: 36,662,269 (GRCm39)	E127V	probably null	Het
Speg	C	T	1: 75,364,735 (GRCm39)	T372I	probably damaging	Het
Syce1l	A	G	8: 114,381,735 (GRCm39)	T204A	probably benign	Het
Tas2r138	T	A	6: 40,589,392 (GRCm39)	M285L	probably benign	Het
Tbc1d10a	G	C	11: 4,163,604 (GRCm39)	K285N	probably damaging	Het
Trim9	T	A	12: 70,393,228 (GRCm39)	M239L	probably benign	Het
Trp53bp1	A	G	2: 121,039,761 (GRCm39)	S1293P	probably benign	Het
Uaca	C	T	9: 60,779,498 (GRCm39)	T1295M	possibly damaging	Het
Ubald1	G	T	16: 4,693,433 (GRCm39)	Q161K	possibly damaging	Het
Ugt1a10	C	T	1: 88,143,982 (GRCm39)	R201C	probably damaging	Het
Vps45	T	G	3: 95,950,237 (GRCm39)	T231P	probably damaging	Het
Zfp534	G	A	4: 147,766,731 (GRCm39)	T8I	probably benign	Het
Zfp68	T	C	5: 138,605,517 (GRCm39)	N269D	probably benign	Het

Other mutations in Wdr17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Wdr17	APN	8	55,140,746 (GRCm39)	missense	probably damaging	1.00
IGL00496:Wdr17	APN	8	55,112,614 (GRCm39)	splice site	probably benign
IGL01318:Wdr17	APN	8	55,125,585 (GRCm39)	missense	probably damaging	1.00
IGL01347:Wdr17	APN	8	55,104,380 (GRCm39)	missense	probably benign
IGL01654:Wdr17	APN	8	55,115,914 (GRCm39)	missense	probably damaging	1.00
IGL02010:Wdr17	APN	8	55,112,738 (GRCm39)	missense	probably damaging	0.97
IGL02085:Wdr17	APN	8	55,140,771 (GRCm39)	nonsense	probably null
IGL02205:Wdr17	APN	8	55,149,335 (GRCm39)	missense	probably damaging	1.00
IGL02375:Wdr17	APN	8	55,149,423 (GRCm39)	missense	possibly damaging	0.94
IGL02705:Wdr17	APN	8	55,101,250 (GRCm39)	splice site	probably null
IGL02719:Wdr17	APN	8	55,146,089 (GRCm39)	splice site	probably null
IGL03051:Wdr17	APN	8	55,104,349 (GRCm39)	missense	probably damaging	0.99
IGL03131:Wdr17	APN	8	55,149,302 (GRCm39)	critical splice donor site	probably null
IGL03172:Wdr17	APN	8	55,114,515 (GRCm39)	missense	probably damaging	0.96
enthralled	UTSW	8	55,112,716 (GRCm39)	missense	possibly damaging	0.85
riveted	UTSW	8	55,085,522 (GRCm39)	missense	probably benign	0.00
thrilled	UTSW	8	55,149,303 (GRCm39)	critical splice donor site	probably null
IGL03138:Wdr17	UTSW	8	55,102,178 (GRCm39)	missense	probably damaging	1.00
PIT4458001:Wdr17	UTSW	8	55,126,614 (GRCm39)	nonsense	probably null
R0011:Wdr17	UTSW	8	55,125,536 (GRCm39)	missense	possibly damaging	0.87
R0011:Wdr17	UTSW	8	55,125,536 (GRCm39)	missense	possibly damaging	0.87
R0124:Wdr17	UTSW	8	55,088,526 (GRCm39)	missense	probably damaging	1.00
R0226:Wdr17	UTSW	8	55,116,043 (GRCm39)	missense	probably benign	0.08
R0270:Wdr17	UTSW	8	55,146,131 (GRCm39)	missense	possibly damaging	0.85
R0271:Wdr17	UTSW	8	55,146,131 (GRCm39)	missense	possibly damaging	0.85
R0288:Wdr17	UTSW	8	55,146,131 (GRCm39)	missense	possibly damaging	0.85
R0321:Wdr17	UTSW	8	55,149,303 (GRCm39)	critical splice donor site	probably null
R0464:Wdr17	UTSW	8	55,123,427 (GRCm39)	splice site	probably benign
R0479:Wdr17	UTSW	8	55,104,456 (GRCm39)	splice site	probably null
R0488:Wdr17	UTSW	8	55,146,087 (GRCm39)	unclassified	probably benign
R0552:Wdr17	UTSW	8	55,146,131 (GRCm39)	missense	possibly damaging	0.85
R0553:Wdr17	UTSW	8	55,146,131 (GRCm39)	missense	possibly damaging	0.85
R0600:Wdr17	UTSW	8	55,114,530 (GRCm39)	missense	probably damaging	1.00
R0621:Wdr17	UTSW	8	55,096,226 (GRCm39)	missense	probably benign	0.18
R0655:Wdr17	UTSW	8	55,102,233 (GRCm39)	missense	probably damaging	1.00
R0730:Wdr17	UTSW	8	55,146,131 (GRCm39)	missense	possibly damaging	0.85
R0789:Wdr17	UTSW	8	55,112,607 (GRCm39)	splice site	probably benign
R0854:Wdr17	UTSW	8	55,156,916 (GRCm39)	missense	probably benign
R0879:Wdr17	UTSW	8	55,114,516 (GRCm39)	missense	probably benign	0.08
R1462:Wdr17	UTSW	8	55,123,363 (GRCm39)	missense	probably damaging	1.00
R1462:Wdr17	UTSW	8	55,123,363 (GRCm39)	missense	probably damaging	1.00
R1497:Wdr17	UTSW	8	55,125,536 (GRCm39)	missense	possibly damaging	0.87
R1589:Wdr17	UTSW	8	55,156,942 (GRCm39)	intron	probably benign
R1618:Wdr17	UTSW	8	55,092,930 (GRCm39)	missense	probably damaging	1.00
R1768:Wdr17	UTSW	8	55,126,689 (GRCm39)	missense	possibly damaging	0.84
R1778:Wdr17	UTSW	8	55,143,249 (GRCm39)	missense	probably damaging	1.00
R1819:Wdr17	UTSW	8	55,143,159 (GRCm39)	missense	probably benign	0.18
R1913:Wdr17	UTSW	8	55,140,761 (GRCm39)	missense	probably damaging	1.00
R2129:Wdr17	UTSW	8	55,085,416 (GRCm39)	missense	probably damaging	1.00
R2132:Wdr17	UTSW	8	55,125,541 (GRCm39)	missense	probably damaging	1.00
R2309:Wdr17	UTSW	8	55,096,283 (GRCm39)	missense	probably benign
R3882:Wdr17	UTSW	8	55,092,536 (GRCm39)	missense	possibly damaging	0.53
R4097:Wdr17	UTSW	8	55,088,504 (GRCm39)	missense	probably damaging	1.00
R4372:Wdr17	UTSW	8	55,092,930 (GRCm39)	missense	probably damaging	1.00
R4380:Wdr17	UTSW	8	55,101,442 (GRCm39)	intron	probably benign
R4480:Wdr17	UTSW	8	55,117,999 (GRCm39)	critical splice donor site	probably null
R4654:Wdr17	UTSW	8	55,134,434 (GRCm39)	missense	probably damaging	1.00
R4656:Wdr17	UTSW	8	55,134,434 (GRCm39)	missense	probably damaging	1.00
R4669:Wdr17	UTSW	8	55,143,083 (GRCm39)	missense	possibly damaging	0.72
R4719:Wdr17	UTSW	8	55,092,911 (GRCm39)	missense	probably benign	0.33
R4912:Wdr17	UTSW	8	55,082,896 (GRCm39)	missense	probably damaging	1.00
R5000:Wdr17	UTSW	8	55,118,161 (GRCm39)	missense	possibly damaging	0.82
R5073:Wdr17	UTSW	8	55,143,271 (GRCm39)	critical splice acceptor site	probably null
R5176:Wdr17	UTSW	8	55,106,913 (GRCm39)	critical splice donor site	probably null
R5194:Wdr17	UTSW	8	55,140,639 (GRCm39)	missense	probably damaging	1.00
R5270:Wdr17	UTSW	8	55,096,221 (GRCm39)	missense	probably benign	0.20
R5300:Wdr17	UTSW	8	55,134,434 (GRCm39)	missense	probably damaging	1.00
R5325:Wdr17	UTSW	8	55,112,716 (GRCm39)	missense	possibly damaging	0.85
R5336:Wdr17	UTSW	8	55,085,353 (GRCm39)	missense	probably damaging	1.00
R5394:Wdr17	UTSW	8	55,092,524 (GRCm39)	missense	possibly damaging	0.73
R5424:Wdr17	UTSW	8	55,134,434 (GRCm39)	missense	probably damaging	1.00
R5425:Wdr17	UTSW	8	55,134,434 (GRCm39)	missense	probably damaging	1.00
R5426:Wdr17	UTSW	8	55,134,434 (GRCm39)	missense	probably damaging	1.00
R5548:Wdr17	UTSW	8	55,156,886 (GRCm39)	missense	probably damaging	0.97
R5681:Wdr17	UTSW	8	55,115,904 (GRCm39)	missense	probably damaging	1.00
R5722:Wdr17	UTSW	8	55,113,806 (GRCm39)	critical splice donor site	probably null
R5894:Wdr17	UTSW	8	55,149,335 (GRCm39)	missense	probably damaging	1.00
R5906:Wdr17	UTSW	8	55,092,503 (GRCm39)	missense	probably benign	0.33
R6038:Wdr17	UTSW	8	55,085,346 (GRCm39)	critical splice donor site	probably null
R6038:Wdr17	UTSW	8	55,085,346 (GRCm39)	critical splice donor site	probably null
R6391:Wdr17	UTSW	8	55,114,495 (GRCm39)	missense	probably benign	0.04
R6605:Wdr17	UTSW	8	55,134,559 (GRCm39)	missense	probably benign	0.16
R6892:Wdr17	UTSW	8	55,126,631 (GRCm39)	missense	probably damaging	1.00
R7019:Wdr17	UTSW	8	55,134,488 (GRCm39)	missense	probably damaging	1.00
R7257:Wdr17	UTSW	8	55,085,522 (GRCm39)	missense	probably benign	0.00
R7481:Wdr17	UTSW	8	55,114,371 (GRCm39)	missense	probably benign
R7868:Wdr17	UTSW	8	55,149,302 (GRCm39)	critical splice donor site	probably null
R7939:Wdr17	UTSW	8	55,140,677 (GRCm39)	missense	probably damaging	0.98
R7962:Wdr17	UTSW	8	55,113,806 (GRCm39)	critical splice donor site	probably null
R8017:Wdr17	UTSW	8	55,091,403 (GRCm39)	missense	possibly damaging	0.73
R8122:Wdr17	UTSW	8	55,118,011 (GRCm39)	missense	probably damaging	1.00
R8226:Wdr17	UTSW	8	55,146,155 (GRCm39)	missense	possibly damaging	0.52
R8251:Wdr17	UTSW	8	55,110,267 (GRCm39)	missense	probably damaging	1.00
R8413:Wdr17	UTSW	8	55,115,953 (GRCm39)	missense	probably benign	0.08
R8534:Wdr17	UTSW	8	55,101,265 (GRCm39)	missense	probably benign	0.08
R8708:Wdr17	UTSW	8	55,093,127 (GRCm39)	intron	probably benign
R9116:Wdr17	UTSW	8	55,114,605 (GRCm39)	missense	probably damaging	1.00
R9258:Wdr17	UTSW	8	55,112,654 (GRCm39)	nonsense	probably null
R9351:Wdr17	UTSW	8	55,143,057 (GRCm39)	missense	probably benign	0.00
R9546:Wdr17	UTSW	8	55,112,735 (GRCm39)	missense	probably damaging	1.00
R9547:Wdr17	UTSW	8	55,112,735 (GRCm39)	missense	probably damaging	1.00
R9635:Wdr17	UTSW	8	55,101,375 (GRCm39)	missense	probably damaging	0.98
V5088:Wdr17	UTSW	8	55,146,131 (GRCm39)	missense	possibly damaging	0.85
V5622:Wdr17	UTSW	8	55,146,131 (GRCm39)	missense	possibly damaging	0.85
V5622:Wdr17	UTSW	8	55,146,131 (GRCm39)	missense	possibly damaging	0.85
X0022:Wdr17	UTSW	8	55,092,529 (GRCm39)	missense	probably benign	0.04
X0066:Wdr17	UTSW	8	55,126,595 (GRCm39)	missense	probably damaging	1.00
Z1177:Wdr17	UTSW	8	55,123,414 (GRCm39)	missense	probably damaging	1.00
Z1177:Wdr17	UTSW	8	55,096,220 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CTCAAAACTGAAGGGCAAGTTG -3'
(R):5'- TTCCAACCACATGTCTTGAGC -3'

Sequencing Primer
(F):5'- CAGAGTGGGGCTGATCCAG -3'
(R):5'- GAGCATATTAGAGTTCCCAGTGAC -3'

Posted On

2022-06-15