Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03172:Wdr17'

411881

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wdr17

Ensembl Gene

ENSMUSG00000039375

Gene Name

WD repeat domain 17

Synonyms

B230207L18Rik, 3010002I12Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03172

Quality Score

Status

Chromosome

Chromosomal Location

55082316-55180014 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 55114515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Arginine at position 667 (I667R)

Ref Sequence

ENSEMBL: ENSMUSP00000122326 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000127511] [ENSMUST00000144482] [ENSMUST00000144711] [ENSMUST00000150488] [ENSMUST00000175915]

AlphaFold

E9Q271

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126316

Predicted Effect

probably benign
Transcript: ENSMUST00000127511
AA Change: I691R

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000115550
Gene: ENSMUSG00000039375
AA Change: I691R

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: ENSMUST00000144482

SMART Domains

Protein: ENSMUSP00000134950
Gene: ENSMUSG00000039375

Domain	Start	End	E-Value	Type
Blast:WD40	16	65	2e-24	BLAST
WD40	70	109	1.59e-7	SMART
WD40	112	152	2.39e0	SMART
WD40	155	196	5.52e-2	SMART
WD40	198	237	4.14e-6	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144711
AA Change: I674R

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117710
Gene: ENSMUSG00000039375
AA Change: I674R

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: I667R

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122326
Gene: ENSMUSG00000039375
AA Change: I667R

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: I667R

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000135805
Gene: ENSMUSG00000039375
AA Change: I667R

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

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,839,003 (GRCm39)	H528R	probably damaging	Het
A530053G22Rik	A	T	6: 60,379,047 (GRCm39)		noncoding transcript	Het
Aagab	A	G	9: 63,542,676 (GRCm39)		probably benign	Het
Aknad1	A	T	3: 108,688,519 (GRCm39)	I616F	possibly damaging	Het
Ap2a1	A	C	7: 44,553,479 (GRCm39)	D629E	probably benign	Het
Apc2	C	A	10: 80,149,220 (GRCm39)	Q1425K	probably damaging	Het
Asf1b	A	C	8: 84,694,542 (GRCm39)	H102P	probably benign	Het
Celf6	C	T	9: 59,489,565 (GRCm39)	A90V	probably damaging	Het
Chrna2	A	T	14: 66,379,688 (GRCm39)	Q9L	probably benign	Het
Csnk1g3	A	G	18: 54,086,356 (GRCm39)	I420M	possibly damaging	Het
Eml3	T	C	19: 8,916,543 (GRCm39)		probably benign	Het
Epn3	T	C	11: 94,382,456 (GRCm39)	N508S	possibly damaging	Het
Fam120a	T	C	13: 49,063,812 (GRCm39)	Y608C	probably damaging	Het
Fbn1	A	C	2: 125,162,888 (GRCm39)	C2133G	possibly damaging	Het
Fhl5	A	G	4: 25,211,309 (GRCm39)	F128L	probably damaging	Het
Fn1	T	C	1: 71,680,421 (GRCm39)	N428S	probably damaging	Het
Fxr2	T	C	11: 69,540,665 (GRCm39)		probably null	Het
Gabrp	T	C	11: 33,504,388 (GRCm39)	Y309C	probably damaging	Het
Golga2	A	G	2: 32,182,168 (GRCm39)	I50V	probably benign	Het
Ifi203	C	T	1: 173,764,158 (GRCm39)	G105R	possibly damaging	Het
Itgav	A	T	2: 83,596,190 (GRCm39)	Q201L	possibly damaging	Het
Jade2	T	C	11: 51,716,198 (GRCm39)	T336A	probably damaging	Het
Kdm4b	A	G	17: 56,708,649 (GRCm39)	D996G	probably damaging	Het
Me2	A	G	18: 73,903,797 (GRCm39)	I557T	probably benign	Het
Memo1	A	C	17: 74,551,996 (GRCm39)	L100R	probably damaging	Het
Mrps2	A	G	2: 28,359,818 (GRCm39)	N225S	probably damaging	Het
Ndufa2	A	G	18: 36,877,278 (GRCm39)		probably null	Het
Or2g7	G	T	17: 38,378,275 (GRCm39)	C71F	probably damaging	Het
Or7g19	G	A	9: 18,856,757 (GRCm39)	S271N	probably benign	Het
Pak5	G	T	2: 135,940,310 (GRCm39)	Y501*	probably null	Het
Pot1b	A	T	17: 56,002,206 (GRCm39)	F123I	possibly damaging	Het
Rev3l	T	C	10: 39,700,786 (GRCm39)	V1761A	probably benign	Het
Samd3	T	A	10: 26,106,064 (GRCm39)	V14E	probably damaging	Het
Slc4a8	G	A	15: 100,697,598 (GRCm39)	A605T	probably benign	Het
Smgc	A	T	15: 91,744,642 (GRCm39)	D333V	probably damaging	Het
Spata4	A	G	8: 55,055,440 (GRCm39)	I147V	probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Vmn2r73	G	A	7: 85,507,495 (GRCm39)	H606Y	probably benign	Het
Vsig8	A	G	1: 172,387,916 (GRCm39)	N2S	probably damaging	Het
Yif1b	A	G	7: 28,937,873 (GRCm39)		probably null	Het
Zbtb5	A	T	4: 44,994,003 (GRCm39)	H460Q	possibly damaging	Het
Zdhhc21	G	A	4: 82,724,564 (GRCm39)		probably benign	Het
Zfp944	A	T	17: 22,559,018 (GRCm39)	H76Q	probably damaging	Het
Zkscan1	A	G	5: 138,092,264 (GRCm39)	Q146R	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
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
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

Posted On

2016-08-02