Mutagenetix > Incidental Mutation

Incidental Mutation 'R9556:Ghdc'

720762

Institutional Source

Beutler Lab

Gene Symbol

Ghdc

Ensembl Gene

ENSMUSG00000017747

Gene Name

GH3 domain containing

Synonyms

D11Lgp1e

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9556 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100656852-100661772 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100658861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 424 (C424S)

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: C424S

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000017891
Gene: ENSMUSG00000017747
AA Change: C424S

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp3	A	T	9: 104,197,178 (GRCm39)	Y183N	probably damaging	Het
Agtr1a	A	T	13: 30,565,073 (GRCm39)	N46I	probably damaging	Het
Aldh1a1	T	C	19: 20,600,756 (GRCm39)	V191A	possibly damaging	Het
Apmap	A	C	2: 150,429,035 (GRCm39)	M196R	possibly damaging	Het
Ddb2	G	T	2: 91,065,202 (GRCm39)	Y74*	probably null	Het
Ddx11	A	G	17: 66,447,207 (GRCm39)	T436A	probably benign	Het
Edc4	TAGCAGCAGCAGCAGCAGCAGCAGC	TAGCAGCAGCAGCAGCAGCAGC	8: 106,615,067 (GRCm39)		probably benign	Het
Eif1ad18	G	A	12: 88,050,510 (GRCm39)	G15D	probably damaging	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gm7347	G	A	5: 26,259,996 (GRCm39)	R185C	probably benign	Het
Gys2	C	T	6: 142,374,377 (GRCm39)	R556H	probably damaging	Het
Hoxa1	ATGGTGGTGGTGGTGGTGGTGGTGGTGG	ATGGTGGTGGTGGTGGTGGTGGTGG	6: 52,134,983 (GRCm39)		probably benign	Het
Igsf21	A	C	4: 139,762,014 (GRCm39)	D221E	probably damaging	Het
Izumo3	A	T	4: 92,035,117 (GRCm39)	D33E	possibly damaging	Het
Kcnu1	A	C	8: 26,348,154 (GRCm39)	I107L	probably damaging	Het
Mme	C	A	3: 63,272,225 (GRCm39)	T608K	probably damaging	Het
Mpdz	A	T	4: 81,278,263 (GRCm39)	I774K	probably damaging	Het
Muc16	A	G	9: 18,569,934 (GRCm39)	S862P	unknown	Het
Ncbp2	T	A	16: 31,775,758 (GRCm39)	V134D	probably damaging	Het
Nr5a2	A	T	1: 136,818,460 (GRCm39)	H416Q	possibly damaging	Het
Nsmaf	A	T	4: 6,408,637 (GRCm39)	M714K	probably benign	Het
Nusap1	A	G	2: 119,479,444 (GRCm39)	N420D	possibly damaging	Het
Or5b99	T	C	19: 12,976,938 (GRCm39)	I196T	probably benign	Het
Or7e176	G	T	9: 20,171,651 (GRCm39)	V172L	probably benign	Het
Phlpp2	A	G	8: 110,666,758 (GRCm39)	T1096A	probably benign	Het
Ppp1r14a	A	G	7: 28,988,944 (GRCm39)	E62G	probably damaging	Het
Scgb3a2	T	A	18: 43,900,039 (GRCm39)	V109E	unknown	Het
Slc26a1	T	C	5: 108,820,404 (GRCm39)	N281S		Het
Slc35a3	T	A	3: 116,474,763 (GRCm39)	I210F	possibly damaging	Het
Slco3a1	A	T	7: 74,201,905 (GRCm39)	D16E	probably benign	Het
Tbcd	G	A	11: 121,467,053 (GRCm39)	A638T	probably damaging	Het
Tes	A	T	6: 17,096,233 (GRCm39)	T74S	probably benign	Het
Ugt2a2	G	A	5: 87,609,821 (GRCm39)	T420I	probably damaging	Het
Washc5	T	C	15: 59,218,716 (GRCm39)	T684A	possibly damaging	Het
Zfp160	A	G	17: 21,247,031 (GRCm39)	N527S	probably benign	Het
Zfp516	C	A	18: 82,974,965 (GRCm39)	P388T	probably benign	Het
Zfp719	G	A	7: 43,239,072 (GRCm39)	C220Y	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
R5926:Ghdc	UTSW	11	100,659,063 (GRCm39)	missense	possibly damaging	0.78
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
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'- TGGAGACTGTAGGGATGGAAGTT -3'
(R):5'- AATCAGTGTCCTGTGGTCAG -3'

Sequencing Primer
(F):5'- CTGGGATTTGAACTCAGGACC -3'
(R):5'- GGTAGGTGACCCCGGGG -3'

Posted On

2022-08-09