Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02198:Dhrs7c'

284134

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dhrs7c

Ensembl Gene

ENSMUSG00000033044

Gene Name

dehydrogenase/reductase 7C

Synonyms

dehydrogenase/reductase (SDR family) member 7C, 1110001P11Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02198

Quality Score

Status

Chromosome

Chromosomal Location

67689097-67706828 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67706628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 262 (M262K)

Ref Sequence

ENSEMBL: ENSMUSP00000130924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000168612]

AlphaFold

Q8CHS7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168612
AA Change: M262K

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130924
Gene: ENSMUSG00000033044
AA Change: M262K

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:adh_short	38	237	2e-41	PFAM
Pfam:adh_short_C2	43	238	3.4e-9	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	A	G	2: 131,388,412 (GRCm39)	I381T	probably damaging	Het
Armt1	T	A	10: 4,404,064 (GRCm39)	F383Y	possibly damaging	Het
Cdca2	A	G	14: 67,932,445 (GRCm39)	V486A	probably benign	Het
Cep78	A	G	19: 15,933,733 (GRCm39)	L615S	probably damaging	Het
Clec2h	C	A	6: 128,650,979 (GRCm39)	C86*	probably null	Het
Cntnap5a	C	T	1: 116,508,262 (GRCm39)	T1258I	probably benign	Het
Dmpk	C	A	7: 18,822,117 (GRCm39)	F332L	probably damaging	Het
Dnaaf4	G	A	9: 72,876,348 (GRCm39)	V308I	probably benign	Het
Fap	A	G	2: 62,385,142 (GRCm39)	F73L	probably benign	Het
Igsf10	A	T	3: 59,233,399 (GRCm39)	I1778N	possibly damaging	Het
Il6ra	T	C	3: 89,797,655 (GRCm39)	T71A	probably benign	Het
Itpr2	C	A	6: 146,224,725 (GRCm39)	A1389S	probably damaging	Het
Mob3b	T	C	4: 35,083,983 (GRCm39)	N69D	probably damaging	Het
Nr1h3	A	G	2: 91,023,070 (GRCm39)	W21R	probably damaging	Het
Or4f56	A	T	2: 111,703,593 (GRCm39)	N202K	probably damaging	Het
Ovca2	A	G	11: 75,069,596 (GRCm39)	V9A	possibly damaging	Het
Ovch2	T	A	7: 107,394,041 (GRCm39)	K137N	probably damaging	Het
Pabpc1l	A	G	2: 163,869,536 (GRCm39)	N112S	probably damaging	Het
Plekho1	T	A	3: 95,899,496 (GRCm39)	N99I	probably damaging	Het
Recql5	A	C	11: 115,785,499 (GRCm39)	S666A	probably benign	Het
Scn3a	G	T	2: 65,338,833 (GRCm39)	H615Q	probably benign	Het
Sel1l3	A	G	5: 53,297,141 (GRCm39)		probably benign	Het
Slc38a2	A	T	15: 96,590,258 (GRCm39)	S328T	probably damaging	Het
Taok1	T	C	11: 77,466,503 (GRCm39)		probably benign	Het
Tsnax	T	A	8: 125,759,451 (GRCm39)	Y237*	probably null	Het
Ttn	T	A	2: 76,544,974 (GRCm39)	K24382N	probably damaging	Het
Ugt1a9	T	A	1: 87,999,165 (GRCm39)	V205E	possibly damaging	Het
Unc80	C	A	1: 66,569,145 (GRCm39)	D933E	possibly damaging	Het
Vnn1	A	T	10: 23,779,323 (GRCm39)	T411S	probably benign	Het
Wdr27	C	A	17: 15,128,860 (GRCm39)	G531V	possibly damaging	Het
Zfp760	G	T	17: 21,941,193 (GRCm39)	V123L	probably benign	Het

Other mutations in Dhrs7c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02031:Dhrs7c	APN	11	67,706,715 (GRCm39)	missense	probably benign	0.00
IGL02168:Dhrs7c	APN	11	67,706,693 (GRCm39)	missense	probably benign	0.05
R1403:Dhrs7c	UTSW	11	67,702,476 (GRCm39)	missense	probably damaging	1.00
R1403:Dhrs7c	UTSW	11	67,702,476 (GRCm39)	missense	probably damaging	1.00
R1617:Dhrs7c	UTSW	11	67,705,903 (GRCm39)	missense	possibly damaging	0.78
R2380:Dhrs7c	UTSW	11	67,706,690 (GRCm39)	missense	probably benign	0.22
R2972:Dhrs7c	UTSW	11	67,706,697 (GRCm39)	missense	possibly damaging	0.67
R3432:Dhrs7c	UTSW	11	67,700,699 (GRCm39)	missense	probably benign	0.00
R3752:Dhrs7c	UTSW	11	67,702,281 (GRCm39)	missense	probably damaging	1.00
R4498:Dhrs7c	UTSW	11	67,706,706 (GRCm39)	missense	possibly damaging	0.94
R4886:Dhrs7c	UTSW	11	67,700,620 (GRCm39)	missense	probably damaging	0.97
R5202:Dhrs7c	UTSW	11	67,706,627 (GRCm39)	missense	probably benign	0.03
R6140:Dhrs7c	UTSW	11	67,705,900 (GRCm39)	missense	probably damaging	1.00
R7157:Dhrs7c	UTSW	11	67,700,722 (GRCm39)	critical splice donor site	probably null
R7598:Dhrs7c	UTSW	11	67,702,279 (GRCm39)	critical splice acceptor site	probably null
R7774:Dhrs7c	UTSW	11	67,700,641 (GRCm39)	missense	probably damaging	1.00
R9721:Dhrs7c	UTSW	11	67,705,904 (GRCm39)	missense	probably damaging	0.99
R9749:Dhrs7c	UTSW	11	67,702,479 (GRCm39)	missense	probably damaging	0.97

Posted On

2015-04-16