Mutagenetix > Incidental Mutation

Incidental Mutation 'R7314:Ghdc'

567836

Institutional Source

Beutler Lab

Gene Symbol

Ghdc

Ensembl Gene

ENSMUSG00000017747

Gene Name

GH3 domain containing

Synonyms

D11Lgp1e

MMRRC Submission

045412-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R7314 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100656852-100661772 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100659928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 273 (E273G)

Ref Sequence

ENSEMBL: ENSMUSP00000017891 (fasta)

Gene Model

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

AlphaFold

Q99J23

Predicted Effect

probably damaging
Transcript: ENSMUST00000017891
AA Change: E273G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000017891
Gene: ENSMUSG00000017747
AA Change: E273G

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

Meta Mutation Damage Score

0.8139

Coding Region Coverage

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

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020L13Rik	G	A	7: 29,989,320 (GRCm39)	V177I	unknown	Het
4930596D02Rik	A	G	14: 35,533,606 (GRCm39)	V54A	probably benign	Het
Abcc10	C	A	17: 46,626,330 (GRCm39)	A704S	probably damaging	Het
Adss2	A	G	1: 177,595,317 (GRCm39)	W408R	probably damaging	Het
Aplp1	T	C	7: 30,135,414 (GRCm39)	E548G	probably damaging	Het
C4b	C	T	17: 34,959,330 (GRCm39)	V415I	probably benign	Het
Celsr3	T	C	9: 108,706,343 (GRCm39)	V942A	probably damaging	Het
Cstf1	A	G	2: 172,214,954 (GRCm39)	D25G	probably damaging	Het
Dnah14	A	T	1: 181,612,819 (GRCm39)		probably null	Het
Dnah9	G	A	11: 65,880,677 (GRCm39)	T2640I	probably benign	Het
Dnase2b	T	C	3: 146,288,151 (GRCm39)	I315V	probably damaging	Het
Endod1	T	C	9: 14,268,295 (GRCm39)	S397G	probably benign	Het
Eps8	A	G	6: 137,504,090 (GRCm39)	V171A	possibly damaging	Het
Hmgn2-ps	C	T	8: 73,058,839 (GRCm39)	G63R	probably damaging	Het
Hspbap1	T	A	16: 35,645,541 (GRCm39)	S409T	probably benign	Het
Ireb2	T	C	9: 54,799,794 (GRCm39)	Y412H	probably damaging	Het
Jph4	TCCATTCTCGTATACCCCA	TCCA	14: 55,347,196 (GRCm39)		probably benign	Het
Klhl6	A	G	16: 19,775,755 (GRCm39)	Y268H	probably damaging	Het
Krt16	T	C	11: 100,138,695 (GRCm39)	D197G	probably damaging	Het
Lca5	T	C	9: 83,277,563 (GRCm39)	K594E	possibly damaging	Het
Lgi3	T	C	14: 70,769,552 (GRCm39)	F84S	probably damaging	Het
Lingo3	T	C	10: 80,670,707 (GRCm39)	I408V	possibly damaging	Het
Map3k7	G	T	4: 31,985,769 (GRCm39)	E231*	probably null	Het
Nrip1	A	G	16: 76,088,078 (GRCm39)	S1160P	probably benign	Het
Oas1g	A	T	5: 121,016,526 (GRCm39)	L301Q	probably damaging	Het
Obox3	T	A	7: 15,361,079 (GRCm39)	Q62L	possibly damaging	Het
Or5d37	A	G	2: 87,923,458 (GRCm39)	L274P	probably benign	Het
Or6b13	A	T	7: 139,782,326 (GRCm39)	V119D	probably damaging	Het
Parp8	G	T	13: 117,004,996 (GRCm39)	F727L	probably benign	Het
Pcdha1	T	C	18: 37,064,553 (GRCm39)	Y406H	probably damaging	Het
Pcdhgb8	A	G	18: 37,896,052 (GRCm39)	D374G	probably damaging	Het
Pdzd8	A	T	19: 59,289,783 (GRCm39)	L539*	probably null	Het
Phkb	A	G	8: 86,669,021 (GRCm39)		probably null	Het
Ppp1r13b	T	C	12: 111,812,790 (GRCm39)	E143G	probably damaging	Het
Rpap2	T	C	5: 107,768,245 (GRCm39)	V361A	probably damaging	Het
Setd4	T	C	16: 93,384,711 (GRCm39)	T326A	probably benign	Het
Smad9	A	G	3: 54,696,744 (GRCm39)	N270D	probably benign	Het
Sntg2	A	G	12: 30,317,107 (GRCm39)	S172P	probably benign	Het
Tecpr1	A	G	5: 144,154,150 (GRCm39)	L101P	probably damaging	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Tmprss11f	T	C	5: 86,671,912 (GRCm39)	T427A	possibly damaging	Het
Trhr2	A	G	8: 123,085,489 (GRCm39)	V165A	possibly damaging	Het
Ubr3	T	A	2: 69,821,944 (GRCm39)	L1402Q	probably damaging	Het
Vps13c	T	A	9: 67,850,622 (GRCm39)		probably null	Het
Zfp369	T	C	13: 65,439,918 (GRCm39)	S201P	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
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'- CTCGGCTGTTAGTCAGAGCTAG -3'
(R):5'- GCTGATGGTGAAGAACTGGC -3'

Sequencing Primer
(F):5'- GCTGTTAGTCAGAGCTAGTAACCC -3'
(R):5'- CTGAGGCCATAGCAGCTG -3'

Posted On

2019-06-26