Mutagenetix > Incidental Mutation

Incidental Mutation 'R8338:Wdhd1'

644761

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

067730-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8338 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

47478401-47514314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47506120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 265 (M265V)

Ref Sequence

ENSEMBL: ENSMUSP00000107420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111790] [ENSMUST00000111792] [ENSMUST00000187531]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000111790
AA Change: M265V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107420
Gene: ENSMUSG00000037572
AA Change: M265V

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	2.4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111792
AA Change: M265V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107422
Gene: ENSMUSG00000037572
AA Change: M265V

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: M265V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000141182
Gene: ENSMUSG00000037572
AA Change: M265V

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

Coding Region Coverage

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

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	T	C	5: 137,290,006 (GRCm39)	L445P	probably damaging	Het
Agrn	G	A	4: 156,253,018 (GRCm39)	T1773I	probably benign	Het
Arap3	A	G	18: 38,106,683 (GRCm39)	S1387P	probably damaging	Het
Bcl11a	G	C	11: 24,114,578 (GRCm39)	K640N	probably damaging	Het
Bicd1	G	A	6: 149,414,621 (GRCm39)	V445I	probably benign	Het
Bltp3a	A	G	17: 28,095,669 (GRCm39)	N26S	probably damaging	Het
C2cd6	A	C	1: 59,099,734 (GRCm39)	N402K	probably benign	Het
Celsr3	C	T	9: 108,704,539 (GRCm39)	Q341*	probably null	Het
Cers1	A	G	8: 70,783,772 (GRCm39)	E240G	possibly damaging	Het
Cfap157	G	T	2: 32,668,018 (GRCm39)	T441N	possibly damaging	Het
Cfap44	G	A	16: 44,239,698 (GRCm39)		probably null	Het
Chd1	A	G	17: 15,990,242 (GRCm39)	Y1598C	probably damaging	Het
Ckap2l	T	G	2: 129,126,939 (GRCm39)	Q413P	probably damaging	Het
Cobl	T	C	11: 12,203,696 (GRCm39)	E1002G	probably benign	Het
Cryge	G	A	1: 65,087,933 (GRCm39)	T156M	unknown	Het
Cubn	A	C	2: 13,435,658 (GRCm39)	F1099L	probably benign	Het
Cyp7b1	T	C	3: 18,151,730 (GRCm39)	E161G	probably benign	Het
Dnah10	A	G	5: 124,909,566 (GRCm39)	E4452G	probably damaging	Het
Dnah2	C	T	11: 69,378,122 (GRCm39)	R1273Q	probably damaging	Het
Dnah3	T	C	7: 119,671,104 (GRCm39)	E593G	probably benign	Het
Dnah9	C	A	11: 65,732,067 (GRCm39)		probably null	Het
Dnajc22	C	A	15: 98,999,022 (GRCm39)	P69Q	probably benign	Het
Fam171a2	T	A	11: 102,329,172 (GRCm39)	D529V	probably benign	Het
Fbxl17	T	C	17: 63,663,753 (GRCm39)	I579V	possibly damaging	Het
Fry	C	T	5: 150,282,516 (GRCm39)	T347M	probably damaging	Het
Gm13272	A	C	4: 88,698,364 (GRCm39)	D93A	probably benign	Het
Grm4	A	T	17: 27,653,977 (GRCm39)	F658I	probably damaging	Het
Hmcn1	G	A	1: 150,614,485 (GRCm39)	T1307I	probably benign	Het
Igkv12-98	G	A	6: 68,548,159 (GRCm39)	S96N	probably benign	Het
Il2ra	A	T	2: 11,687,885 (GRCm39)	T222S	probably benign	Het
Il5ra	G	T	6: 106,689,350 (GRCm39)	T414K	probably benign	Het
Isg15	T	A	4: 156,284,088 (GRCm39)	I147F	probably benign	Het
Kif14	C	A	1: 136,422,416 (GRCm39)	A902E	probably damaging	Het
Lcat	G	A	8: 106,666,719 (GRCm39)	R268C	probably damaging	Het
Lipa	T	C	19: 34,471,477 (GRCm39)	N366S	probably benign	Het
Lrp4	A	G	2: 91,322,713 (GRCm39)	T1101A	probably benign	Het
Man1a	T	A	10: 53,801,643 (GRCm39)		probably null	Het
Mib1	A	G	18: 10,726,372 (GRCm39)	D23G	probably benign	Het
Morc2b	A	T	17: 33,355,387 (GRCm39)	M795K	probably benign	Het
Msantd5f1	T	A	4: 73,605,435 (GRCm39)	M282K	possibly damaging	Het
Mycbp2	T	A	14: 103,372,701 (GRCm39)	E4048D	probably damaging	Het
Myo7b	A	G	18: 32,104,408 (GRCm39)	S1447P	probably damaging	Het
Myt1	A	T	2: 181,443,655 (GRCm39)	T536S	possibly damaging	Het
Nod1	A	T	6: 54,920,956 (GRCm39)	L454Q	probably damaging	Het
Nrf1	T	A	6: 30,140,247 (GRCm39)	W199R		Het
Or10w1	T	A	19: 13,632,216 (GRCm39)	M141K	possibly damaging	Het
Or13a27	T	A	7: 139,925,306 (GRCm39)	M199L	probably benign	Het
Or14c44	T	C	7: 86,061,702 (GRCm39)	I44T	probably benign	Het
Or8k27	A	T	2: 86,275,729 (GRCm39)	M199K	probably benign	Het
Or9a4	T	C	6: 40,548,910 (GRCm39)	F197L	probably benign	Het
Ostn	G	T	16: 27,143,285 (GRCm39)	A38S	probably benign	Het
Paxbp1	A	T	16: 90,833,435 (GRCm39)	D266E	probably damaging	Het
Pcdhb14	G	T	18: 37,582,175 (GRCm39)	G427V	probably damaging	Het
Pdzrn3	A	T	6: 101,127,783 (GRCm39)	M961K	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Prdx5	T	C	19: 6,884,632 (GRCm39)	D148G	probably damaging	Het
Ptprj	A	T	2: 90,301,481 (GRCm39)	I217N	possibly damaging	Het
Rccd1	A	T	7: 79,970,618 (GRCm39)	L54Q	possibly damaging	Het
Rfx6	T	A	10: 51,594,190 (GRCm39)	V370E	probably damaging	Het
Sdr16c6	C	T	4: 4,076,620 (GRCm39)	C93Y	probably damaging	Het
Shroom1	A	G	11: 53,354,107 (GRCm39)	D9G	probably benign	Het
Snrpe	A	G	1: 133,536,681 (GRCm39)	V33A	probably benign	Het
Spats2	T	A	15: 99,076,340 (GRCm39)	D139E	probably damaging	Het
Spopfm1	A	G	3: 94,173,285 (GRCm39)	I94V	possibly damaging	Het
St18	A	G	1: 6,879,516 (GRCm39)	E405G	probably damaging	Het
Strap	A	T	6: 137,718,976 (GRCm39)	E176V	possibly damaging	Het
Stxbp5l	G	T	16: 36,994,718 (GRCm39)	T729K	probably damaging	Het
Synj2bp	G	A	12: 81,551,326 (GRCm39)	Q97*	probably null	Het
Tbc1d32	T	A	10: 55,904,173 (GRCm39)	Q1198L	possibly damaging	Het
Tmem98	T	C	11: 80,712,135 (GRCm39)	S191P	probably benign	Het
Tnn	C	T	1: 159,946,053 (GRCm39)	G922R	probably damaging	Het
Treh	A	G	9: 44,595,808 (GRCm39)	N366S	probably benign	Het
Ttn	T	G	2: 76,750,136 (GRCm39)	S3638R	probably benign	Het
Uggt1	A	G	1: 36,266,602 (GRCm39)	L124P	probably damaging	Het
V1rd19	A	T	7: 23,702,674 (GRCm39)	K47*	probably null	Het
Wsb1	T	C	11: 79,137,103 (GRCm39)	D168G	probably damaging	Het

Other mutations in Wdhd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01335:Wdhd1	APN	14	47,488,239 (GRCm39)	missense	possibly damaging	0.87
IGL01789:Wdhd1	APN	14	47,512,274 (GRCm39)	missense	probably benign	0.10
IGL01981:Wdhd1	APN	14	47,498,907 (GRCm39)	missense	probably damaging	1.00
IGL02034:Wdhd1	APN	14	47,498,808 (GRCm39)	missense	probably benign	0.02
IGL02932:Wdhd1	APN	14	47,509,591 (GRCm39)	critical splice donor site	probably null
IGL02966:Wdhd1	APN	14	47,479,101 (GRCm39)	missense	possibly damaging	0.93
IGL03355:Wdhd1	APN	14	47,481,346 (GRCm39)	missense	possibly damaging	0.78
R0165:Wdhd1	UTSW	14	47,504,525 (GRCm39)	missense	probably benign	0.00
R0414:Wdhd1	UTSW	14	47,514,045 (GRCm39)	missense	probably benign
R0603:Wdhd1	UTSW	14	47,501,043 (GRCm39)	missense	probably damaging	1.00
R1503:Wdhd1	UTSW	14	47,484,857 (GRCm39)	missense	probably benign	0.00
R1539:Wdhd1	UTSW	14	47,482,507 (GRCm39)	missense	possibly damaging	0.63
R1541:Wdhd1	UTSW	14	47,505,649 (GRCm39)	nonsense	probably null
R1588:Wdhd1	UTSW	14	47,493,693 (GRCm39)	missense	probably damaging	1.00
R1686:Wdhd1	UTSW	14	47,493,672 (GRCm39)	missense	probably damaging	1.00
R1916:Wdhd1	UTSW	14	47,496,034 (GRCm39)	missense	possibly damaging	0.89
R1952:Wdhd1	UTSW	14	47,507,647 (GRCm39)	missense	probably damaging	1.00
R2320:Wdhd1	UTSW	14	47,511,485 (GRCm39)	missense	probably benign	0.06
R2421:Wdhd1	UTSW	14	47,496,041 (GRCm39)	missense	probably benign	0.00
R3731:Wdhd1	UTSW	14	47,485,349 (GRCm39)	missense	possibly damaging	0.89
R3818:Wdhd1	UTSW	14	47,481,258 (GRCm39)	critical splice donor site	probably null
R3836:Wdhd1	UTSW	14	47,482,511 (GRCm39)	missense	probably benign	0.01
R4789:Wdhd1	UTSW	14	47,506,149 (GRCm39)	missense	probably benign	0.01
R4963:Wdhd1	UTSW	14	47,506,146 (GRCm39)	missense	possibly damaging	0.66
R4994:Wdhd1	UTSW	14	47,506,111 (GRCm39)	critical splice donor site	probably null
R5225:Wdhd1	UTSW	14	47,488,273 (GRCm39)	missense	probably benign	0.01
R5347:Wdhd1	UTSW	14	47,506,181 (GRCm39)	nonsense	probably null
R5377:Wdhd1	UTSW	14	47,509,678 (GRCm39)	missense	probably benign	0.15
R6038:Wdhd1	UTSW	14	47,501,037 (GRCm39)	missense	possibly damaging	0.89
R6038:Wdhd1	UTSW	14	47,501,037 (GRCm39)	missense	possibly damaging	0.89
R6046:Wdhd1	UTSW	14	47,510,667 (GRCm39)	nonsense	probably null
R6156:Wdhd1	UTSW	14	47,505,653 (GRCm39)	missense	probably damaging	0.99
R6289:Wdhd1	UTSW	14	47,495,953 (GRCm39)	missense	possibly damaging	0.95
R6298:Wdhd1	UTSW	14	47,510,579 (GRCm39)	missense	possibly damaging	0.67
R6345:Wdhd1	UTSW	14	47,489,379 (GRCm39)	missense	probably damaging	0.99
R6405:Wdhd1	UTSW	14	47,481,324 (GRCm39)	missense	possibly damaging	0.91
R6500:Wdhd1	UTSW	14	47,488,217 (GRCm39)	splice site	probably null
R6564:Wdhd1	UTSW	14	47,485,499 (GRCm39)	missense	probably benign
R6897:Wdhd1	UTSW	14	47,485,587 (GRCm39)	missense	probably damaging	1.00
R7262:Wdhd1	UTSW	14	47,489,430 (GRCm39)	missense	probably benign	0.08
R7444:Wdhd1	UTSW	14	47,489,405 (GRCm39)	nonsense	probably null
R7496:Wdhd1	UTSW	14	47,511,481 (GRCm39)	missense	probably benign	0.39
R7503:Wdhd1	UTSW	14	47,488,248 (GRCm39)	missense	probably benign	0.25
R8317:Wdhd1	UTSW	14	47,500,994 (GRCm39)	missense	probably damaging	1.00
R8323:Wdhd1	UTSW	14	47,512,252 (GRCm39)	missense	possibly damaging	0.85
R8331:Wdhd1	UTSW	14	47,509,702 (GRCm39)	splice site	probably null
R8363:Wdhd1	UTSW	14	47,513,989 (GRCm39)	missense	probably damaging	1.00
R8944:Wdhd1	UTSW	14	47,504,470 (GRCm39)	missense	probably benign
R8946:Wdhd1	UTSW	14	47,482,752 (GRCm39)	missense	probably benign	0.01
R9045:Wdhd1	UTSW	14	47,511,409 (GRCm39)	missense	probably benign	0.01
R9428:Wdhd1	UTSW	14	47,489,427 (GRCm39)	nonsense	probably null
R9444:Wdhd1	UTSW	14	47,488,324 (GRCm39)	missense	possibly damaging	0.85
R9491:Wdhd1	UTSW	14	47,505,616 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATGTATTCAATCCTTAGCACCACC -3'
(R):5'- TTCTCCTGGCTAACAAAATGACATG -3'

Sequencing Primer
(F):5'- CTCACTCATGCAATGAACTGTG -3'
(R):5'- GGCTAACAAAATGACATGATATTTGC -3'

Posted On

2020-09-02