Mutagenetix > Incidental Mutation

Incidental Mutation 'R3432:Dhrs7c'

266246

Institutional Source

Beutler Lab

Gene Symbol

Dhrs7c

Ensembl Gene

ENSMUSG00000033044

Gene Name

dehydrogenase/reductase 7C

Synonyms

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

MMRRC Submission

040650-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67689097-67706828 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 67700699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 82 (T82I)

Ref Sequence

ENSEMBL: ENSMUSP00000130924 (fasta)

Gene Model

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

AlphaFold

Q8CHS7

Predicted Effect

probably benign
Transcript: ENSMUST00000168612
AA Change: T82I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000130924
Gene: ENSMUSG00000033044
AA Change: T82I

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.7%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr3	G	A	1: 125,321,776 (GRCm39)	P405S	probably damaging	Het
Adamts3	A	G	5: 89,855,312 (GRCm39)		probably benign	Het
Angptl2	T	C	2: 33,118,814 (GRCm39)	V196A	probably benign	Het
Aoc1	A	T	6: 48,882,778 (GRCm39)	H240L	probably damaging	Het
Arsj	A	T	3: 126,158,624 (GRCm39)	T68S	probably benign	Het
Atp8b3	T	C	10: 80,362,014 (GRCm39)	K708E	probably benign	Het
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Ceacam5	T	A	7: 17,448,901 (GRCm39)	V89E	probably benign	Het
Cpt1b	T	C	15: 89,307,944 (GRCm39)	E205G	possibly damaging	Het
Efs	C	T	14: 55,157,681 (GRCm39)	R117Q	probably damaging	Het
Evl	T	C	12: 108,614,567 (GRCm39)		probably benign	Het
Fam89b	A	T	19: 5,781,761 (GRCm39)		probably null	Het
Fbxo16	T	C	14: 65,531,233 (GRCm39)	F46L	probably damaging	Het
Glp1r	T	A	17: 31,143,531 (GRCm39)	L189H	probably damaging	Het
Gstp1	G	A	19: 4,086,695 (GRCm39)	T110I	possibly damaging	Het
Hbq1a	T	G	11: 32,250,715 (GRCm39)	S133A	probably benign	Het
Hhipl1	A	G	12: 108,277,948 (GRCm39)	E92G	probably damaging	Het
Il18r1	C	T	1: 40,526,249 (GRCm39)	T265M	probably damaging	Het
Lpp	T	C	16: 24,708,636 (GRCm39)	V447A	probably benign	Het
Mcm2	G	A	6: 88,869,990 (GRCm39)	R60C	probably damaging	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Mmel1	C	T	4: 154,969,955 (GRCm39)		probably benign	Het
Myo5c	A	G	9: 75,170,283 (GRCm39)	E471G	probably damaging	Het
Obscn	A	G	11: 58,922,003 (GRCm39)	L317P	probably damaging	Het
Or8b57	A	T	9: 40,003,845 (GRCm39)	M139K	probably damaging	Het
Psg18	A	G	7: 18,083,096 (GRCm39)	V232A	possibly damaging	Het
Ptprt	T	C	2: 161,769,449 (GRCm39)	E472G	probably damaging	Het
Rap2a	G	T	14: 120,741,170 (GRCm39)	A158S	possibly damaging	Het
Rbm15	A	T	3: 107,237,993 (GRCm39)	S802T	probably benign	Het
Sec14l5	A	G	16: 4,996,463 (GRCm39)	I470V	possibly damaging	Het
Serpinb1a	T	C	13: 33,026,842 (GRCm39)	T367A	possibly damaging	Het
Sirpb1a	A	G	3: 15,491,447 (GRCm39)	W7R	probably damaging	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Taf5	A	C	19: 47,064,272 (GRCm39)	K405T	probably damaging	Het
Tbc1d19	T	C	5: 54,005,548 (GRCm39)		probably benign	Het
Trim58	T	C	11: 58,537,787 (GRCm39)		probably benign	Het
Tssk4	A	G	14: 55,889,152 (GRCm39)	N226S	probably damaging	Het
Uggt1	C	A	1: 36,249,140 (GRCm39)	E267*	probably null	Het
Zdhhc23	T	A	16: 43,794,533 (GRCm39)		probably benign	Het
Zfp407	G	A	18: 84,226,871 (GRCm39)	A2246V	probably damaging	Het
Zfp872	C	T	9: 22,111,750 (GRCm39)	R410*	probably null	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
IGL02198:Dhrs7c	APN	11	67,706,628 (GRCm39)	missense	possibly damaging	0.81
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
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

Predicted Primers

PCR Primer
(F):5'- ATGTGACATCAGGAGTCCCTAAG -3'
(R):5'- ATCAGTGCCCAAGCTTCACC -3'

Sequencing Primer
(F):5'- GACAGGAACTCCTTTCTACAGCTC -3'
(R):5'- GCTTCACCCTGACAAGTGATC -3'

Posted On

2015-02-18