Mutagenetix > Incidental Mutation

Incidental Mutation 'R9260:Wdr19'

702167

Institutional Source

Beutler Lab

Gene Symbol

Wdr19

Ensembl Gene

ENSMUSG00000037890

Gene Name

WD repeat domain 19

Synonyms

D330023L08Rik, DYF2, C330027H04Rik, Ift144

MMRRC Submission

068962-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9260 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65357039-65417758 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 65363789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 67 (D67E)

Ref Sequence

ENSEMBL: ENSMUSP00000038098 (fasta)

Gene Model

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

AlphaFold

Q3UGF1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000041892
AA Change: D67E

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038098
Gene: ENSMUSG00000037890
AA Change: D67E

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

possibly damaging
Transcript: ENSMUST00000203653
AA Change: D67E

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144866
Gene: ENSMUSG00000037890
AA Change: D67E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (77/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp1a4	A	G	1: 172,074,359 (GRCm39)	I298T	probably damaging	Het
Bmper	T	A	9: 23,318,016 (GRCm39)	L545H	probably benign	Het
Cacnb3	A	G	15: 98,537,438 (GRCm39)	S39G	probably benign	Het
Casr	T	C	16: 36,330,326 (GRCm39)	K336R	probably benign	Het
Ccdc141	C	A	2: 76,844,795 (GRCm39)	G1424V	probably damaging	Het
Cd101	A	T	3: 100,920,599 (GRCm39)	D437E	probably benign	Het
Chadl	A	G	15: 81,578,058 (GRCm39)	S524P	probably damaging	Het
Cimap2	T	C	4: 106,472,634 (GRCm39)	K84E	probably benign	Het
Clec4a4	C	T	6: 123,000,895 (GRCm39)	R203*	probably null	Het
Cntnap4	A	G	8: 113,500,276 (GRCm39)	I523V	probably benign	Het
Cpb1	T	A	3: 20,316,638 (GRCm39)	Y304F	probably damaging	Het
Dnajc14	T	G	10: 128,642,766 (GRCm39)	S229R	possibly damaging	Het
Dnajc15	A	G	14: 78,081,839 (GRCm39)	V101A	possibly damaging	Het
Dpyd	A	T	3: 119,108,447 (GRCm39)	Y830F	possibly damaging	Het
Ehbp1l1	A	G	19: 5,769,278 (GRCm39)	V675A	probably benign	Het
F10	G	A	8: 13,105,638 (GRCm39)	C413Y	probably damaging	Het
Fam47e	C	T	5: 92,735,384 (GRCm39)	L206F	probably damaging	Het
Fpr1	A	T	17: 18,098,006 (GRCm39)		probably benign	Het
Frem2	G	C	3: 53,560,204 (GRCm39)	S1434R	probably damaging	Het
Gli3	G	T	13: 15,899,675 (GRCm39)	V1021F	probably damaging	Het
Gm7168	A	T	17: 14,169,488 (GRCm39)	N285I	probably benign	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Herc1	T	A	9: 66,325,691 (GRCm39)	C1388*	probably null	Het
Hikeshi	T	C	7: 89,579,776 (GRCm39)		probably benign	Het
Hjv	T	A	3: 96,435,579 (GRCm39)	I279N	probably damaging	Het
Igfn1	T	C	1: 135,907,694 (GRCm39)	E217G	probably benign	Het
Ighv1-59	T	C	12: 115,298,737 (GRCm39)	T106A	probably benign	Het
Igkv6-23	T	A	6: 70,237,457 (GRCm39)	I95F	probably damaging	Het
Il31ra	A	T	13: 112,668,202 (GRCm39)	S456T	probably damaging	Het
Ints3	T	C	3: 90,308,468 (GRCm39)	D610G	probably damaging	Het
Iqcg	G	A	16: 32,855,973 (GRCm39)	Q201*	probably null	Het
Kat14	T	A	2: 144,235,441 (GRCm39)	D300E	probably benign	Het
Kbtbd13	T	C	9: 65,298,852 (GRCm39)	H28R	possibly damaging	Het
Kcnh2	A	T	5: 24,528,069 (GRCm39)	D866E	probably damaging	Het
Kdm4b	A	G	17: 56,701,775 (GRCm39)	T595A	probably benign	Het
Lct	C	T	1: 128,227,704 (GRCm39)	W1263*	probably null	Het
Micall2	T	A	5: 139,695,453 (GRCm39)	M905L	unknown	Het
Mkrn1	T	C	6: 39,382,530 (GRCm39)		probably benign	Het
Mobp	A	G	9: 119,997,572 (GRCm39)	T164A	unknown	Het
Mtrr	T	C	13: 68,728,674 (GRCm39)	E42G	possibly damaging	Het
Muc5b	T	A	7: 141,405,255 (GRCm39)	W888R	unknown	Het
Myh7	G	A	14: 55,224,842 (GRCm39)	A575V	probably damaging	Het
Nbea	A	C	3: 55,891,233 (GRCm39)	L1612W	possibly damaging	Het
Notch3	A	G	17: 32,362,216 (GRCm39)		probably null	Het
Nsun4	T	C	4: 115,902,007 (GRCm39)	Y153C	probably damaging	Het
Nup210	A	G	6: 91,039,785 (GRCm39)	I690T	probably benign	Het
Nyap2	T	A	1: 81,064,835 (GRCm39)		probably benign	Het
Oaz1	T	A	10: 80,662,603 (GRCm39)	S4T	possibly damaging	Het
Optn	C	T	2: 5,045,076 (GRCm39)	C222Y	probably benign	Het
Or11i1	A	G	3: 106,729,510 (GRCm39)	S122P	probably damaging	Het
Or4f17-ps1	T	A	2: 111,358,271 (GRCm39)	V222E		Het
Or5ac19	T	C	16: 59,089,677 (GRCm39)	M118V	probably damaging	Het
Or6c76b	G	A	10: 129,692,458 (GRCm39)	V24M	probably benign	Het
Or7a40	A	T	16: 16,491,337 (GRCm39)	C169*	probably null	Het
Osmr	T	A	15: 6,882,033 (GRCm39)	H37L	probably benign	Het
Pccb	G	T	9: 100,877,643 (GRCm39)	P287Q	probably benign	Het
Pclo	T	A	5: 14,764,287 (GRCm39)	D4253E	unknown	Het
Pdcd6ip	A	T	9: 113,526,572 (GRCm39)		probably null	Het
Pde9a	T	C	17: 31,678,137 (GRCm39)		probably null	Het
Pdk2	C	A	11: 94,930,260 (GRCm39)	V59F	probably damaging	Het
Pgm1	T	A	4: 99,827,186 (GRCm39)	V362E	probably damaging	Het
Pmepa1	CCGGCGGCGGCGGCGGCGG	CCGGCGGCGGCGGCGG	2: 173,117,943 (GRCm39)		probably benign	Het
Pold4	T	C	19: 4,282,904 (GRCm39)	F97S	possibly damaging	Het
Ppp5c	C	T	7: 16,740,886 (GRCm39)	V361I	probably benign	Het
Prrt1	A	G	17: 34,850,120 (GRCm39)	Y178C	probably damaging	Het
Psmb11	A	T	14: 54,863,033 (GRCm39)	I84F	probably damaging	Het
Smg7	A	G	1: 152,737,549 (GRCm39)	S131P	probably damaging	Het
Snrnp200	T	A	2: 127,078,428 (GRCm39)	L1728Q	probably damaging	Het
Stbd1	A	T	5: 92,753,456 (GRCm39)	E315D	probably damaging	Het
Tcaf1	C	T	6: 42,663,554 (GRCm39)	G109R	possibly damaging	Het
Thap12	C	T	7: 98,356,280 (GRCm39)	R56*	probably null	Het
Ttn	T	C	2: 76,645,919 (GRCm39)	E12848G	probably benign	Het
Unc13d	AATGCCTCCCATGCC	AATGCCTCCCATGCCTCCCATGCC	11: 115,958,998 (GRCm39)		probably benign	Het
Uqcrfs1	G	A	13: 30,725,108 (GRCm39)	A144V	probably damaging	Het
Usp13	T	A	3: 32,955,909 (GRCm39)		probably benign	Het
Zfp998	A	T	13: 66,579,375 (GRCm39)	H369Q	unknown	Het
Zkscan3	A	T	13: 21,578,210 (GRCm39)	W226R	probably damaging	Het
Zmym5	A	C	14: 57,041,641 (GRCm39)	F154C	probably damaging	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
R1543:Wdr19	UTSW	5	65,382,033 (GRCm39)	missense	probably benign	0.06
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
X0028:Wdr19	UTSW	5	65,401,487 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CATGACCGAAAGACAAGCTG -3'
(R):5'- GTACACAATACACGCAATGGTTAAG -3'

Sequencing Primer
(F):5'- CTGGGGAGGAAAGGATTTCTTTG -3'
(R):5'- AATACACGCAATGGTTAAGATACC -3'

Posted On

2022-03-25