Mutagenetix > Incidental Mutation

Incidental Mutation 'R1543:Wdr19'

171913

Institutional Source

Beutler Lab

Gene Symbol

Wdr19

Ensembl Gene

ENSMUSG00000037890

Gene Name

WD repeat domain 19

Synonyms

D330023L08Rik, DYF2, C330027H04Rik, Ift144

MMRRC Submission

039582-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1543 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65357039-65417758 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 65382033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 418 (V418I)

Ref Sequence

ENSEMBL: ENSMUSP00000144866 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041892] [ENSMUST00000203653]

AlphaFold

Q3UGF1

Predicted Effect

probably benign
Transcript: ENSMUST00000041892
AA Change: V418I

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000038098
Gene: ENSMUSG00000037890
AA Change: V418I

Domain	Start	End	E-Value	Type
WD40	6	42	4.26e1	SMART
WD40	44	83	2.13e1	SMART
WD40	85	125	2.75e1	SMART
WD40	128	166	2.67e-1	SMART
Blast:WD40	220	258	6e-9	BLAST
WD40	264	302	1.46e-1	SMART
Blast:WD40	308	347	2e-18	BLAST
Pfam:WD40_3	508	564	2.7e-32	PFAM
low complexity region	1103	1116	N/A	INTRINSIC
low complexity region	1259	1268	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203359

Predicted Effect

probably benign
Transcript: ENSMUST00000203653
AA Change: V418I

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000144866
Gene: ENSMUSG00000037890
AA Change: V418I

Domain	Start	End	E-Value	Type
WD40	6	42	4.26e1	SMART
WD40	44	83	2.13e1	SMART
WD40	85	125	2.75e1	SMART
WD40	128	166	2.67e-1	SMART
Blast:WD40	220	258	6e-9	BLAST
WD40	264	302	1.46e-1	SMART
Blast:WD40	308	347	2e-18	BLAST
Pfam:WD40_3	508	564	2.7e-32	PFAM
low complexity region	1103	1116	N/A	INTRINSIC
low complexity region	1259	1268	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203676

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204647

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.2%

Validation Efficiency

95% (77/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the WD (tryptophan-aspartic acid) repeat family, which is a large family of structurally-related proteins known to participate in a wide range of cellular processes. Each WD repeat typically contains about 40 amino acids that are usually bracketed by glycine-histidine and tryptophan-aspartic acid (WD) dipeptides. This protein contains six WD repeats, three transmembrane domains, and a clathrin heavy-chain repeat. Mutations in this gene have been described in individuals with a wide range of disorders affecting function of the cilium. These disorders are known as ciliopathies, and include Jeune syndrome, Sensenbrenner syndromes, Senior-Loken syndrome, combined or isolated nephronophthisis (NPHP), and retinitis pigmentosa (RP). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit embryonic lethality at E10. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	G	A	6: 40,945,138 (GRCm39)	V206I	probably damaging	Het
Abca8b	A	C	11: 109,865,500 (GRCm39)	M319R	probably damaging	Het
Abcc6	T	C	7: 45,665,928 (GRCm39)	R231G	probably benign	Het
Acadm	A	G	3: 153,635,209 (GRCm39)	Y302H	probably damaging	Het
Acox3	C	A	5: 35,760,352 (GRCm39)	R423S	probably damaging	Het
Adam7	T	A	14: 68,759,371 (GRCm39)		probably benign	Het
Adgrb3	A	C	1: 25,527,169 (GRCm39)	M589R	probably benign	Het
Adgrl2	A	C	3: 148,564,909 (GRCm39)	F224V	probably damaging	Het
Adm2	G	C	15: 89,208,282 (GRCm39)	G74A	probably damaging	Het
Aen	T	A	7: 78,552,370 (GRCm39)	V15E	probably damaging	Het
Ankzf1	T	A	1: 75,169,160 (GRCm39)	V22D	possibly damaging	Het
Arap2	T	A	5: 62,763,498 (GRCm39)	K1549*	probably null	Het
Arhgef11	G	A	3: 87,620,324 (GRCm39)	R430H	probably benign	Het
Asb17	T	G	3: 153,550,148 (GRCm39)	L60W	probably damaging	Het
BC035044	T	C	6: 128,867,948 (GRCm39)		probably benign	Het
Bltp2	A	G	11: 78,166,000 (GRCm39)	T1422A	probably benign	Het
Cacna2d1	A	T	5: 16,471,716 (GRCm39)	M254L	possibly damaging	Het
Celf6	T	C	9: 59,511,160 (GRCm39)		probably benign	Het
Cemip2	G	T	19: 21,789,937 (GRCm39)	A668S	probably benign	Het
Coro2b	C	T	9: 62,333,123 (GRCm39)	V120I	probably benign	Het
Cyp20a1	C	A	1: 60,415,353 (GRCm39)		probably benign	Het
Cyp2c67	C	A	19: 39,631,708 (GRCm39)		probably benign	Het
Dclk3	A	G	9: 111,297,122 (GRCm39)	H222R	probably benign	Het
Deaf1	A	G	7: 140,904,060 (GRCm39)	S109P	possibly damaging	Het
Dlg5	T	A	14: 24,194,516 (GRCm39)	D1675V	probably damaging	Het
Dsg2	T	A	18: 20,727,268 (GRCm39)	V605E	probably benign	Het
Dync2i1	T	C	12: 116,195,404 (GRCm39)		probably benign	Het
Frem2	A	T	3: 53,479,876 (GRCm39)	I1939N	possibly damaging	Het
Fsip2	A	T	2: 82,811,931 (GRCm39)	Y2750F	possibly damaging	Het
Gpr39	T	A	1: 125,800,161 (GRCm39)	I304N	probably damaging	Het
Hdac7	G	A	15: 97,707,410 (GRCm39)		probably benign	Het
Hipk1	T	C	3: 103,685,480 (GRCm39)	H45R	probably benign	Het
Hyal2	T	C	9: 107,447,386 (GRCm39)	L13P	probably damaging	Het
Kdm1b	C	T	13: 47,221,997 (GRCm39)	R479W	probably damaging	Het
Lilrb4b	A	G	10: 51,357,517 (GRCm39)	T118A	probably damaging	Het
Lin7a	C	A	10: 107,247,930 (GRCm39)	F78L	possibly damaging	Het
Lpin3	A	G	2: 160,737,310 (GRCm39)	D119G	possibly damaging	Het
Lrp2	G	A	2: 69,331,074 (GRCm39)	R1661C	probably damaging	Het
Lrrc45	A	G	11: 120,610,844 (GRCm39)	K527E	probably benign	Het
Map10	C	T	8: 126,397,611 (GRCm39)	P335S	probably benign	Het
Mast3	A	G	8: 71,244,955 (GRCm39)	S2P	possibly damaging	Het
Mbtps1	A	G	8: 120,268,808 (GRCm39)		probably benign	Het
Mms22l	T	A	4: 24,591,084 (GRCm39)	N1018K	probably benign	Het
Nckipsd	C	A	9: 108,689,571 (GRCm39)	A244D	possibly damaging	Het
Nt5el	A	T	13: 105,248,877 (GRCm39)	R364*	probably null	Het
Or12k5	C	A	2: 36,895,139 (GRCm39)	L162F	probably damaging	Het
Or1j1	A	T	2: 36,703,069 (GRCm39)	F12I	probably damaging	Het
Or4k44	A	G	2: 111,368,142 (GRCm39)	V164A	probably benign	Het
Or52j3	T	A	7: 102,836,421 (GRCm39)	F204L	probably benign	Het
Or8b12c	T	A	9: 37,715,243 (GRCm39)	I12N	possibly damaging	Het
Pcx	A	T	19: 4,652,251 (GRCm39)	D112V	probably damaging	Het
Phf14	G	A	6: 11,987,682 (GRCm39)		probably null	Het
Pkd1l1	A	G	11: 8,851,200 (GRCm39)	I744T	probably damaging	Het
Ppip5k2	A	G	1: 97,668,607 (GRCm39)	L560P	probably damaging	Het
Psmd14	A	T	2: 61,615,874 (GRCm39)	M248L	probably benign	Het
Ryr1	T	G	7: 28,782,962 (GRCm39)	E1884A	possibly damaging	Het
Scn4b	T	A	9: 45,061,727 (GRCm39)	S204R	probably damaging	Het
Slc12a1	A	T	2: 125,026,777 (GRCm39)	M471L	possibly damaging	Het
Slc17a5	A	G	9: 78,468,082 (GRCm39)	V236A	probably benign	Het
Sobp	T	C	10: 42,897,720 (GRCm39)	T622A	probably damaging	Het
Spata31d1a	G	T	13: 59,850,056 (GRCm39)	R691S	probably benign	Het
Speg	A	G	1: 75,398,595 (GRCm39)	E2014G	probably damaging	Het
Steap4	A	G	5: 8,025,902 (GRCm39)		probably benign	Het
Tas2r144	G	A	6: 42,192,537 (GRCm39)	M92I	probably benign	Het
Tbc1d5	T	C	17: 51,242,560 (GRCm39)	Q179R	probably benign	Het
Tcf25	T	C	8: 124,115,326 (GRCm39)	Y188H	probably benign	Het
Tmem200a	G	A	10: 25,954,518 (GRCm39)		probably benign	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Tssk5	T	C	15: 76,256,409 (GRCm39)	T337A	probably benign	Het
Ttc23	T	C	7: 67,328,743 (GRCm39)	V228A	probably benign	Het
Tulp1	A	T	17: 28,581,645 (GRCm39)		probably benign	Het
Uqcc3	A	G	19: 8,858,117 (GRCm39)	F25L	probably damaging	Het
Vmn2r1	G	A	3: 63,996,994 (GRCm39)	G217S	probably damaging	Het
Vmn2r120	C	T	17: 57,829,374 (GRCm39)	E508K	probably benign	Het
Wdfy3	C	A	5: 101,991,947 (GRCm39)	V3451L	probably benign	Het
Xirp2	C	T	2: 67,338,383 (GRCm39)	T208I	probably benign	Het
Xpnpep1	A	G	19: 52,980,107 (GRCm39)	V639A	probably benign	Het

Other mutations in Wdr19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:Wdr19	APN	5	65,409,642 (GRCm39)	missense	probably benign	0.41
IGL01346:Wdr19	APN	5	65,379,082 (GRCm39)	splice site	probably benign
IGL01761:Wdr19	APN	5	65,373,163 (GRCm39)	missense	possibly damaging	0.60
IGL01845:Wdr19	APN	5	65,382,709 (GRCm39)	missense	probably damaging	0.98
IGL01977:Wdr19	APN	5	65,385,912 (GRCm39)	missense	probably benign
IGL02314:Wdr19	APN	5	65,414,463 (GRCm39)	missense	probably benign	0.26
IGL02455:Wdr19	APN	5	65,382,102 (GRCm39)	missense	probably benign	0.01
IGL02542:Wdr19	APN	5	65,388,414 (GRCm39)	missense	probably benign
IGL02616:Wdr19	APN	5	65,380,924 (GRCm39)	missense	probably damaging	0.97
IGL02661:Wdr19	APN	5	65,403,151 (GRCm39)	missense	probably benign	0.06
IGL02927:Wdr19	APN	5	65,409,721 (GRCm39)	missense	possibly damaging	0.80
IGL02958:Wdr19	APN	5	65,370,150 (GRCm39)	splice site	probably null
IGL03083:Wdr19	APN	5	65,388,319 (GRCm39)	missense	probably benign	0.01
IGL03332:Wdr19	APN	5	65,384,486 (GRCm39)	missense	possibly damaging	0.89
detritus	UTSW	5	65,370,234 (GRCm39)	missense	possibly damaging	0.59
R4609_Wdr19_503	UTSW	5	65,385,885 (GRCm39)	missense	possibly damaging	0.83
R7190_Wdr19_539	UTSW	5	65,398,205 (GRCm39)	missense	probably benign	0.35
refuse	UTSW	5	65,385,635 (GRCm39)	missense	possibly damaging	0.64
R0924:Wdr19	UTSW	5	65,413,782 (GRCm39)	splice site	probably benign
R1178:Wdr19	UTSW	5	65,381,208 (GRCm39)	missense	probably damaging	0.98
R1229:Wdr19	UTSW	5	65,413,734 (GRCm39)	missense	possibly damaging	0.94
R1434:Wdr19	UTSW	5	65,380,847 (GRCm39)	splice site	probably benign
R1819:Wdr19	UTSW	5	65,370,234 (GRCm39)	missense	possibly damaging	0.59
R1971:Wdr19	UTSW	5	65,398,503 (GRCm39)	splice site	probably benign
R2190:Wdr19	UTSW	5	65,401,509 (GRCm39)	missense	possibly damaging	0.89
R2274:Wdr19	UTSW	5	65,398,334 (GRCm39)	missense	possibly damaging	0.62
R3106:Wdr19	UTSW	5	65,359,966 (GRCm39)	missense	probably benign	0.20
R3753:Wdr19	UTSW	5	65,382,069 (GRCm39)	missense	probably damaging	1.00
R3893:Wdr19	UTSW	5	65,385,635 (GRCm39)	missense	possibly damaging	0.64
R4609:Wdr19	UTSW	5	65,385,885 (GRCm39)	missense	possibly damaging	0.83
R5284:Wdr19	UTSW	5	65,382,752 (GRCm39)	missense	probably damaging	1.00
R5328:Wdr19	UTSW	5	65,401,522 (GRCm39)	missense	probably damaging	1.00
R5530:Wdr19	UTSW	5	65,385,562 (GRCm39)	missense	probably benign
R5837:Wdr19	UTSW	5	65,360,300 (GRCm39)	missense	probably benign	0.08
R5902:Wdr19	UTSW	5	65,384,482 (GRCm39)	missense	probably benign	0.09
R6065:Wdr19	UTSW	5	65,379,056 (GRCm39)	missense	probably benign
R6419:Wdr19	UTSW	5	65,373,236 (GRCm39)	missense	possibly damaging	0.63
R6495:Wdr19	UTSW	5	65,415,466 (GRCm39)	missense	probably benign	0.00
R6916:Wdr19	UTSW	5	65,382,677 (GRCm39)	missense	possibly damaging	0.64
R7020:Wdr19	UTSW	5	65,413,657 (GRCm39)	missense	probably damaging	0.99
R7190:Wdr19	UTSW	5	65,398,205 (GRCm39)	missense	probably benign	0.35
R7972:Wdr19	UTSW	5	65,381,193 (GRCm39)	missense	probably damaging	1.00
R8328:Wdr19	UTSW	5	65,382,638 (GRCm39)	missense	probably damaging	0.97
R8390:Wdr19	UTSW	5	65,381,210 (GRCm39)	nonsense	probably null
R8960:Wdr19	UTSW	5	65,398,211 (GRCm39)	missense	probably benign
R9260:Wdr19	UTSW	5	65,363,789 (GRCm39)	missense	possibly damaging	0.90
X0028:Wdr19	UTSW	5	65,401,487 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CGGACAGTGCATAACTGACAGTAGC -3'
(R):5'- CCAAGGGTCTTGGTAATGGGACATC -3'

Sequencing Primer
(F):5'- GTGCATAACTGACAGTAGCCATTC -3'
(R):5'- GGGACATCAAATTTAGGCTTCCAG -3'

Posted On

2014-04-13