Mutagenetix > Incidental Mutation

Incidental Mutation 'R5926:Ghdc'

459906

Institutional Source

Beutler Lab

Gene Symbol

Ghdc

Ensembl Gene

ENSMUSG00000017747

Gene Name

GH3 domain containing

Synonyms

D11Lgp1e

MMRRC Submission

044121-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R5926 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100656852-100661772 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100659063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 380 (V380M)

Ref Sequence

ENSEMBL: ENSMUSP00000017891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017891] [ENSMUST00000139341]

AlphaFold

Q99J23

Predicted Effect

possibly damaging
Transcript: ENSMUST00000017891
AA Change: V380M

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000017891
Gene: ENSMUSG00000017747
AA Change: V380M

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	101	114	N/A	INTRINSIC
Pfam:GH3	177	519	1e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139341

SMART Domains

Protein: ENSMUSP00000114260
Gene: ENSMUSG00000017747

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	101	114	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147682

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,537,608 (GRCm39)	Y701F	probably benign	Het
Abra	T	A	15: 41,729,650 (GRCm39)	H250L	probably damaging	Het
Acer2	T	C	4: 86,792,805 (GRCm39)	V27A	probably benign	Het
Arhgef15	A	G	11: 68,842,781 (GRCm39)	L343S	possibly damaging	Het
Arnt2	G	T	7: 83,993,154 (GRCm39)	H129N	probably damaging	Het
Atp9a	T	A	2: 168,548,191 (GRCm39)	Y63F	probably damaging	Het
Brca2	A	G	5: 150,458,087 (GRCm39)	T213A	probably benign	Het
Cdk5r1	T	C	11: 80,369,128 (GRCm39)		probably null	Het
Cyb5r4	C	T	9: 86,939,314 (GRCm39)	L366F	probably benign	Het
Cyp20a1	T	A	1: 60,402,401 (GRCm39)	I162K	possibly damaging	Het
Dcaf1	T	C	9: 106,715,561 (GRCm39)	V226A	probably benign	Het
Ddx41	A	T	13: 55,682,112 (GRCm39)	M232K	probably damaging	Het
Dnm1	C	T	2: 32,205,816 (GRCm39)	V99I	probably benign	Het
Doc2a	T	C	7: 126,448,697 (GRCm39)	V134A	probably damaging	Het
Gldn	A	G	9: 54,245,722 (GRCm39)	I424M	possibly damaging	Het
Haus6	A	T	4: 86,517,553 (GRCm39)	H270Q	probably benign	Het
Hfe	A	T	13: 23,892,247 (GRCm39)	M39K	probably damaging	Het
Jakmip1	C	T	5: 37,242,624 (GRCm39)		probably benign	Het
Kcnb2	A	G	1: 15,383,235 (GRCm39)	N187S	probably benign	Het
Kcnd2	A	G	6: 21,217,084 (GRCm39)	S263G	probably damaging	Het
Kcnh1	A	G	1: 192,095,385 (GRCm39)	N481S	probably benign	Het
Kcnn2	A	G	18: 45,818,351 (GRCm39)	I343V	probably benign	Het
L3hypdh	T	A	12: 72,123,959 (GRCm39)	S300C	probably damaging	Het
Lrit1	T	A	14: 36,776,966 (GRCm39)	C29S	probably damaging	Het
Mark3	T	A	12: 111,559,168 (GRCm39)	V70E	probably damaging	Het
Med16	C	T	10: 79,738,362 (GRCm39)	V319M	probably damaging	Het
Mindy3	T	C	2: 12,352,911 (GRCm39)	Y430C	probably damaging	Het
Mup5	A	T	4: 61,751,286 (GRCm39)	F121I	probably benign	Het
Myt1l	G	A	12: 29,882,331 (GRCm39)	G509R	unknown	Het
Notch1	A	G	2: 26,366,116 (GRCm39)	Y813H	probably benign	Het
Or10a3m	T	C	7: 108,312,794 (GRCm39)	L66S	probably damaging	Het
Or5p53	T	C	7: 107,533,110 (GRCm39)	S128P	probably damaging	Het
Or6b2b	A	T	1: 92,419,288 (GRCm39)	L63Q	probably damaging	Het
Pi4kb	A	G	3: 94,906,307 (GRCm39)	Y301C	probably damaging	Het
Ptch1	A	G	13: 63,692,869 (GRCm39)	S244P	probably benign	Het
Ptprn	G	A	1: 75,231,242 (GRCm39)	T554I	probably damaging	Het
Ptprt	T	C	2: 161,406,606 (GRCm39)	I969V	probably benign	Het
Raf1	T	C	6: 115,596,859 (GRCm39)	M519V	probably benign	Het
Ryr1	A	G	7: 28,803,785 (GRCm39)	V622A	probably damaging	Het
Spaca4	G	T	7: 45,374,719 (GRCm39)	H94Q	probably benign	Het
Spata31	A	G	13: 65,068,539 (GRCm39)	D229G	possibly damaging	Het
Tbx6	G	A	7: 126,384,025 (GRCm39)	A359T	possibly damaging	Het
Trpm8	T	A	1: 88,258,469 (GRCm39)	Y251N	probably damaging	Het
Vps16	T	A	2: 130,285,476 (GRCm39)	N806K	probably damaging	Het
Vwf	T	C	6: 125,581,137 (GRCm39)	F592L	probably damaging	Het

Other mutations in Ghdc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1489:Ghdc	UTSW	11	100,659,083 (GRCm39)	missense	probably benign	0.39
R1568:Ghdc	UTSW	11	100,659,331 (GRCm39)	missense	probably benign	0.03
R1945:Ghdc	UTSW	11	100,660,031 (GRCm39)	missense	probably benign	0.10
R1999:Ghdc	UTSW	11	100,660,018 (GRCm39)	missense	probably benign	0.04
R2150:Ghdc	UTSW	11	100,660,018 (GRCm39)	missense	probably benign	0.04
R4779:Ghdc	UTSW	11	100,660,929 (GRCm39)	missense	possibly damaging	0.93
R4807:Ghdc	UTSW	11	100,661,051 (GRCm39)	missense	probably damaging	1.00
R4910:Ghdc	UTSW	11	100,657,814 (GRCm39)	missense	probably benign	0.26
R4952:Ghdc	UTSW	11	100,659,977 (GRCm39)	missense	probably damaging	1.00
R5001:Ghdc	UTSW	11	100,657,660 (GRCm39)	missense	probably damaging	1.00
R5220:Ghdc	UTSW	11	100,660,543 (GRCm39)	missense	probably damaging	0.98
R5422:Ghdc	UTSW	11	100,660,020 (GRCm39)	missense	probably benign	0.03
R6165:Ghdc	UTSW	11	100,659,928 (GRCm39)	missense	possibly damaging	0.70
R7076:Ghdc	UTSW	11	100,660,540 (GRCm39)	missense	possibly damaging	0.75
R7299:Ghdc	UTSW	11	100,658,942 (GRCm39)	missense	possibly damaging	0.47
R7314:Ghdc	UTSW	11	100,659,928 (GRCm39)	missense	probably damaging	0.99
R7655:Ghdc	UTSW	11	100,660,493 (GRCm39)	missense	probably benign	0.04
R7656:Ghdc	UTSW	11	100,660,493 (GRCm39)	missense	probably benign	0.04
R9419:Ghdc	UTSW	11	100,661,081 (GRCm39)	missense	probably damaging	0.96
R9556:Ghdc	UTSW	11	100,658,861 (GRCm39)	missense	possibly damaging	0.90
R9684:Ghdc	UTSW	11	100,661,091 (GRCm39)	missense	probably benign	0.02
R9710:Ghdc	UTSW	11	100,658,863 (GRCm39)	missense	probably benign	0.00
Z1176:Ghdc	UTSW	11	100,660,243 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GAACTCTGCTCTCCACACAG -3'
(R):5'- TTGGTGCTGACGAACCACAC -3'

Sequencing Primer
(F):5'- ACATGGTCCAACAGCTTGGC -3'
(R):5'- TGACGAACCACACCAGCCTG -3'

Posted On

2017-02-28