Mutagenetix > Incidental Mutation

Incidental Mutation 'R8946:Wdhd1'

681324

Institutional Source

Beutler Lab

Gene Symbol

Wdhd1

Ensembl Gene

ENSMUSG00000037572

Gene Name

WD repeat and HMG-box DNA binding protein 1

Synonyms

AND-1, D630024B06Rik

MMRRC Submission

068784-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8946 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47240944-47276857 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 47245295 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 961 (S961T)

Ref Sequence

ENSEMBL: ENSMUSP00000141182 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111792] [ENSMUST00000187531]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000111792
AA Change: S924T

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

SMART Domains

Protein: ENSMUSP00000107422
Gene: ENSMUSG00000037572
AA Change: S924T

Domain	Start	End	E-Value	Type
WD40	4	41	8.62e-4	SMART
WD40	83	122	8.91e-1	SMART
WD40	125	164	1.67e-10	SMART
WD40	217	258	6.19e-1	SMART
WD40	261	301	5.11e1	SMART
low complexity region	316	326	N/A	INTRINSIC
Pfam:DUF3639	488	514	7.1e-13	PFAM
coiled coil region	765	797	N/A	INTRINSIC
HMG	966	1036	2.64e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000187531
AA Change: S961T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000141182
Gene: ENSMUSG00000037572
AA Change: S961T

Domain	Start	End	E-Value	Type
WD40	4	41	8.62e-4	SMART
WD40	83	122	8.91e-1	SMART
WD40	125	164	1.67e-10	SMART
WD40	217	258	6.19e-1	SMART
WD40	261	301	5.11e1	SMART
low complexity region	353	363	N/A	INTRINSIC
Pfam:DUF3639	525	551	3e-13	PFAM
coiled coil region	802	834	N/A	INTRINSIC
HMG	1003	1073	2.64e-12	SMART

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

97% (65/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	A	G	10: 4,354,368	S393G	probably damaging	Het
Ankrd28	A	G	14: 31,708,126	F862L	probably damaging	Het
Ankrd31	T	C	13: 96,909,529	*1546Q	probably null	Het
Ankrd33b	T	C	15: 31,297,748	T288A	probably benign	Het
Aox1	T	C	1: 58,106,068	I1331T	possibly damaging	Het
Atp13a5	A	G	16: 29,327,783	L231P	probably damaging	Het
C1qtnf12	T	C	4: 155,966,425	F284L	probably damaging	Het
Caprin1	A	T	2: 103,778,033	H250Q	probably damaging	Het
Cd2bp2	A	C	7: 127,194,751	I122S	probably damaging	Het
Cd300lf	T	A	11: 115,133,912		probably benign	Het
Ceacam14	A	G	7: 17,814,074	I30V	probably benign	Het
Chchd1	T	A	14: 20,703,317	*56R	probably null	Het
Ckap5	A	G	2: 91,579,516	T948A	probably benign	Het
Clec12a	A	T	6: 129,363,986	N243I	possibly damaging	Het
Col11a2	A	G	17: 34,051,783	M462V	probably benign	Het
Col6a5	C	T	9: 105,945,634	E175K	unknown	Het
Csnka2ip	T	C	16: 64,480,304		probably benign	Het
D130040H23Rik	C	A	8: 69,302,381	T146N	possibly damaging	Het
Dennd5b	T	C	6: 149,041,987		probably benign	Het
E130309D02Rik	C	G	5: 143,315,040	E19Q	probably benign	Het
Fanci	A	G	7: 79,395,978	T23A	probably benign	Het
Fmnl1	T	C	11: 103,180,915	Y83H	probably damaging	Het
Galnt13	C	A	2: 54,880,063	T289N	probably benign	Het
Gcn1l1	A	G	5: 115,595,345	D1074G	probably benign	Het
Gm10801	ATTTTCAGTTTTCTTGCCATATTCCACGTCCTGCACTGGACATTTCTAAATTTTCCACCTTTTTCAGTTTTC	ATTTTCAGTTTTC	2: 98,662,324		probably null	Het
Gm5415	C	T	1: 32,546,604	R75Q	probably benign	Het
Gnl1	T	C	17: 35,983,587	I366T	probably benign	Het
Gtf2ird2	A	T	5: 134,216,319	Y473F	probably damaging	Het
Ikzf1	T	A	11: 11,769,485	D397E	possibly damaging	Het
Intu	C	T	3: 40,683,359	A425V	possibly damaging	Het
Jakmip1	G	A	5: 37,185,740		probably null	Het
Lif	C	A	11: 4,269,225	P168Q	possibly damaging	Het
Mrvi1	A	T	7: 110,878,140		probably null	Het
Myh11	A	C	16: 14,230,716	S576A	probably benign	Het
Neb	A	G	2: 52,151,413	V6559A	probably damaging	Het
Nphs1	A	G	7: 30,463,200	N368S	probably damaging	Het
Npsr1	G	A	9: 24,313,229	V148I	probably benign	Het
Olfr1465	A	T	19: 13,314,138	L49Q	probably damaging	Het
Olfr566	C	A	7: 102,856,518	G255*	probably null	Het
Olfr599	T	C	7: 103,338,366	F104S	probably damaging	Het
Olfr683	T	A	7: 105,143,625	I223F	probably damaging	Het
Olfr857	C	T	9: 19,713,589	T254I	probably damaging	Het
Patz1	T	C	11: 3,291,856	C415R	probably damaging	Het
Pcdha9	A	T	18: 36,998,493	N205I	possibly damaging	Het
Pcdhga12	A	T	18: 37,766,658	E181V	probably benign	Het
Pcnx	T	C	12: 81,971,384	Y1333H	probably damaging	Het
Phf7	A	T	14: 31,248,149		probably benign	Het
Pomc	T	G	12: 3,960,298	S180A	probably benign	Het
Ppp1r7	T	A	1: 93,360,814		probably null	Het
Prrc2c	A	T	1: 162,708,909		probably benign	Het
Rsf1	GGC	GGCCACGGCCGC	7: 97,579,906		probably benign	Het
Senp1	T	C	15: 98,042,901	K664E	probably damaging	Het
Skint7	A	G	4: 111,982,001	N164S	possibly damaging	Het
Smg1	C	A	7: 118,152,677	R2775M	probably null	Het
Snrnp27	C	T	6: 86,676,244	V131M	probably damaging	Het
Spire1	C	A	18: 67,496,616	R357L	probably damaging	Het
Sspo	G	A	6: 48,457,137	V959I	probably damaging	Het
St6galnac2	T	C	11: 116,677,632	H335R	probably damaging	Het
Stard13	C	T	5: 151,060,802	R623H	probably damaging	Het
Syde1	T	A	10: 78,588,849	E383V	probably damaging	Het
Taf10	A	G	7: 105,744,317	M1T	probably null	Het
Traf3ip3	A	G	1: 193,187,107	C257R	probably damaging	Het
Trpm8	G	A	1: 88,348,339		probably benign	Het
Veph1	A	G	3: 66,263,880		probably null	Het
Vmn1r169	A	T	7: 23,577,215	T11S	possibly damaging	Het
Zfp773	T	C	7: 7,132,470	T376A	possibly damaging	Het

Other mutations in Wdhd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01335:Wdhd1	APN	14	47250782	missense	possibly damaging	0.87
IGL01789:Wdhd1	APN	14	47274817	missense	probably benign	0.10
IGL01981:Wdhd1	APN	14	47261450	missense	probably damaging	1.00
IGL02034:Wdhd1	APN	14	47261351	missense	probably benign	0.02
IGL02932:Wdhd1	APN	14	47272134	critical splice donor site	probably null
IGL02966:Wdhd1	APN	14	47241644	missense	possibly damaging	0.93
IGL03355:Wdhd1	APN	14	47243889	missense	possibly damaging	0.78
R0165:Wdhd1	UTSW	14	47267068	missense	probably benign	0.00
R0414:Wdhd1	UTSW	14	47276588	missense	probably benign
R0603:Wdhd1	UTSW	14	47263586	missense	probably damaging	1.00
R1503:Wdhd1	UTSW	14	47247400	missense	probably benign	0.00
R1539:Wdhd1	UTSW	14	47245050	missense	possibly damaging	0.63
R1541:Wdhd1	UTSW	14	47268192	nonsense	probably null
R1588:Wdhd1	UTSW	14	47256236	missense	probably damaging	1.00
R1686:Wdhd1	UTSW	14	47256215	missense	probably damaging	1.00
R1916:Wdhd1	UTSW	14	47258577	missense	possibly damaging	0.89
R1952:Wdhd1	UTSW	14	47270190	missense	probably damaging	1.00
R2320:Wdhd1	UTSW	14	47274028	missense	probably benign	0.06
R2421:Wdhd1	UTSW	14	47258584	missense	probably benign	0.00
R3731:Wdhd1	UTSW	14	47247892	missense	possibly damaging	0.89
R3818:Wdhd1	UTSW	14	47243801	critical splice donor site	probably null
R3836:Wdhd1	UTSW	14	47245054	missense	probably benign	0.01
R4789:Wdhd1	UTSW	14	47268692	missense	probably benign	0.01
R4963:Wdhd1	UTSW	14	47268689	missense	possibly damaging	0.66
R4994:Wdhd1	UTSW	14	47268654	critical splice donor site	probably null
R5225:Wdhd1	UTSW	14	47250816	missense	probably benign	0.01
R5347:Wdhd1	UTSW	14	47268724	nonsense	probably null
R5377:Wdhd1	UTSW	14	47272221	missense	probably benign	0.15
R6038:Wdhd1	UTSW	14	47263580	missense	possibly damaging	0.89
R6038:Wdhd1	UTSW	14	47263580	missense	possibly damaging	0.89
R6046:Wdhd1	UTSW	14	47273210	nonsense	probably null
R6156:Wdhd1	UTSW	14	47268196	missense	probably damaging	0.99
R6289:Wdhd1	UTSW	14	47258496	missense	possibly damaging	0.95
R6298:Wdhd1	UTSW	14	47273122	missense	possibly damaging	0.67
R6345:Wdhd1	UTSW	14	47251922	missense	probably damaging	0.99
R6405:Wdhd1	UTSW	14	47243867	missense	possibly damaging	0.91
R6500:Wdhd1	UTSW	14	47250760	splice site	probably null
R6564:Wdhd1	UTSW	14	47248042	missense	probably benign
R6897:Wdhd1	UTSW	14	47248130	missense	probably damaging	1.00
R7262:Wdhd1	UTSW	14	47251973	missense	probably benign	0.08
R7444:Wdhd1	UTSW	14	47251948	nonsense	probably null
R7496:Wdhd1	UTSW	14	47274024	missense	probably benign	0.39
R7503:Wdhd1	UTSW	14	47250791	missense	probably benign	0.25
R8317:Wdhd1	UTSW	14	47263537	missense	probably damaging	1.00
R8323:Wdhd1	UTSW	14	47274795	missense	possibly damaging	0.85
R8331:Wdhd1	UTSW	14	47272245	splice site	probably null
R8338:Wdhd1	UTSW	14	47268663	missense	probably benign
R8363:Wdhd1	UTSW	14	47276532	missense	probably damaging	1.00
R8944:Wdhd1	UTSW	14	47267013	missense	probably benign
R9045:Wdhd1	UTSW	14	47273952	missense	probably benign	0.01
R9428:Wdhd1	UTSW	14	47251970	nonsense	probably null
R9444:Wdhd1	UTSW	14	47250867	missense	possibly damaging	0.85
R9491:Wdhd1	UTSW	14	47268159	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATGCTGCAGATGCCTATGAAAAC -3'
(R):5'- CACAGTGGAGTTGTTTTCTTCAC -3'

Sequencing Primer
(F):5'- TGCCTATGAAAACAAACAGATGTG -3'
(R):5'- GACATTCTCTTCTCTCTAGGTAGTAG -3'

Posted On

2021-08-31