Mutagenetix > Incidental Mutation

Incidental Mutation 'R4912:Wdr17'

379634

Institutional Source

Beutler Lab

Gene Symbol

Wdr17

Ensembl Gene

ENSMUSG00000039375

Gene Name

WD repeat domain 17

Synonyms

B230207L18Rik, 3010002I12Rik

MMRRC Submission

042514-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4912 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55082316-55180014 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55082896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1268 (D1268G)

Ref Sequence

ENSEMBL: ENSMUSP00000122326 (fasta)

Gene Model

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

AlphaFold

E9Q271

Predicted Effect

probably damaging
Transcript: ENSMUST00000127511
AA Change: D1300G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115550
Gene: ENSMUSG00000039375
AA Change: D1300G

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

noncoding transcript
Transcript: ENSMUST00000128850

Predicted Effect

probably damaging
Transcript: ENSMUST00000144711
AA Change: D1275G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000117710
Gene: ENSMUSG00000039375
AA Change: D1275G

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 damaging
Transcript: ENSMUST00000150488
AA Change: D1268G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122326
Gene: ENSMUSG00000039375
AA Change: D1268G

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: D1261G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135805
Gene: ENSMUSG00000039375
AA Change: D1261G

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: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.9%

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
1700006A11Rik	T	C	3: 124,213,505 (GRCm39)	D52G	possibly damaging	Het
Acaa1a	C	A	9: 119,171,827 (GRCm39)	R102S	probably damaging	Het
Arhgef12	G	A	9: 42,904,361 (GRCm39)	R706*	probably null	Het
Best3	A	G	10: 116,844,886 (GRCm39)	Y347C	probably damaging	Het
Birc6	T	A	17: 74,872,900 (GRCm39)	D386E	probably damaging	Het
C130050O18Rik	A	T	5: 139,400,144 (GRCm39)	T66S	probably benign	Het
Chd9	A	T	8: 91,760,858 (GRCm39)	D2201V	possibly damaging	Het
Csk	A	G	9: 57,538,063 (GRCm39)	Y48H	probably damaging	Het
Dffb	T	A	4: 154,049,864 (GRCm39)		probably benign	Het
Diaph3	A	C	14: 87,244,635 (GRCm39)	C217W	probably damaging	Het
Eml2	T	A	7: 18,927,924 (GRCm39)		probably null	Het
Ercc5	T	C	1: 44,196,217 (GRCm39)	I70T	probably damaging	Het
Fryl	AGTGTGT	AGTGT	5: 73,226,125 (GRCm39)		probably null	Het
Fsd1	C	T	17: 56,298,241 (GRCm39)	P189S	possibly damaging	Het
Gm42669	A	G	5: 107,656,683 (GRCm39)	K982R	probably damaging	Het
Gm5414	A	G	15: 101,533,445 (GRCm39)	I373T	possibly damaging	Het
Gm7356	A	G	17: 14,221,498 (GRCm39)	L177P	possibly damaging	Het
Grip1	G	A	10: 119,767,153 (GRCm39)	D93N	probably damaging	Het
Hbq1b	T	A	11: 32,237,014 (GRCm39)	M1K	probably null	Het
Hps3	C	A	3: 20,068,337 (GRCm39)	L572F	probably damaging	Het
Ighj2	T	A	12: 113,393,100 (GRCm39)		probably benign	Het
Kcna3	T	C	3: 106,945,207 (GRCm39)	M490T	probably benign	Het
Krt76	T	A	15: 101,796,597 (GRCm39)	K404*	probably null	Het
Lgr4	A	T	2: 109,836,847 (GRCm39)		probably null	Het
Ltbp4	G	T	7: 27,005,541 (GRCm39)	C1533*	probably null	Het
Mapre2	A	G	18: 23,965,990 (GRCm39)	N25S	probably damaging	Het
Mark3	T	A	12: 111,559,087 (GRCm39)	I43K	probably benign	Het
Mon1b	T	A	8: 114,368,585 (GRCm39)	Y495*	probably null	Het
Mrfap1	A	G	5: 36,954,089 (GRCm39)		probably benign	Het
Mxra8	A	G	4: 155,925,361 (GRCm39)		probably null	Het
Myoz1	A	T	14: 20,699,606 (GRCm39)	L244Q	probably damaging	Het
Ndfip2	C	T	14: 105,496,120 (GRCm39)	R5W	probably benign	Het
Nek11	T	C	9: 105,164,857 (GRCm39)	D423G	probably benign	Het
Nin	A	T	12: 70,090,837 (GRCm39)	D859E	probably damaging	Het
Nup210	G	A	6: 90,994,511 (GRCm39)	A1729V	probably benign	Het
Olfm3	A	G	3: 114,895,589 (GRCm39)	E157G	probably damaging	Het
Or1e1f	A	T	11: 73,856,166 (GRCm39)	H244L	probably damaging	Het
Prickle1	A	G	15: 93,398,429 (GRCm39)	S800P	probably benign	Het
Reln	A	G	5: 22,130,191 (GRCm39)	S2707P	probably benign	Het
Resf1	C	G	6: 149,230,887 (GRCm39)	S1311C	probably damaging	Het
Rexo4	G	A	2: 26,852,404 (GRCm39)	T200M	possibly damaging	Het
Saxo2	T	A	7: 82,283,743 (GRCm39)	I372L	probably benign	Het
Scgb2b2	T	A	7: 31,003,056 (GRCm39)	D50E	probably benign	Het
Sipa1l1	T	C	12: 82,443,452 (GRCm39)	L914P	possibly damaging	Het
Slf1	T	A	13: 77,199,413 (GRCm39)	D656V	probably damaging	Het
Sorbs1	T	C	19: 40,300,171 (GRCm39)	D1192G	probably damaging	Het
Tdrd6	A	C	17: 43,935,218 (GRCm39)	D1943E	probably benign	Het
Tmem163	G	A	1: 127,419,362 (GRCm39)	T281M	probably damaging	Het
Tmod3	A	G	9: 75,439,730 (GRCm39)	V35A	probably damaging	Het
Ttc39c	A	T	18: 12,867,951 (GRCm39)	Q448L	probably benign	Het
Ulk1	A	T	5: 110,935,455 (GRCm39)	S937T	probably damaging	Het
Unc13c	T	A	9: 73,481,304 (GRCm39)	D1711V	probably damaging	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Utp20	G	T	10: 88,607,822 (GRCm39)	Q1596K	probably benign	Het
Vmn1r28	A	T	6: 58,242,525 (GRCm39)	I123F	possibly damaging	Het
Vmn1r73	T	A	7: 11,490,596 (GRCm39)	V138E	probably damaging	Het
Vmn2r112	A	G	17: 22,822,363 (GRCm39)	D347G	probably damaging	Het
Vmn2r3	T	G	3: 64,166,618 (GRCm39)	T838P	probably damaging	Het
Vps13d	A	T	4: 144,882,427 (GRCm39)	D1055E	probably benign	Het
Zfp108	T	A	7: 23,960,739 (GRCm39)	H443Q	probably damaging	Het
Zfp608	A	G	18: 55,079,663 (GRCm39)	V374A	probably damaging	Het
Zfp831	G	T	2: 174,486,417 (GRCm39)	G364V	probably damaging	Het
Zfp94	A	G	7: 24,003,166 (GRCm39)	V86A	probably benign	Het
Zkscan16	A	C	4: 58,946,506 (GRCm39)	N127T	possibly damaging	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
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
R9475:Wdr17	UTSW	8	55,088,512 (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'- TCTGTCTTCCAAGTATCAAACCAC -3'
(R):5'- GAAGATGATTTCACAGTTGGTAGC -3'

Sequencing Primer
(F):5'- ACCTCCCAACCTATTATTCTTAGAC -3'
(R):5'- TGATTTCACAGTTGGTAGCATTTAAG -3'

Posted On

2016-04-15