Mutagenetix > Incidental Mutation

Incidental Mutation 'R1626:Dhrs7b'

172516

Institutional Source

Beutler Lab

Gene Symbol

Dhrs7b

Ensembl Gene

ENSMUSG00000042569

Gene Name

dehydrogenase/reductase 7B

Synonyms

dehydrogenase/reductase (SDR family) member 7B

MMRRC Submission

039663-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.808) question?

Stock #

R1626 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

60721457-60749249 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 60735082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 23 (F23I)

Ref Sequence

ENSEMBL: ENSMUSP00000104358 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042281] [ENSMUST00000108718]

AlphaFold

Q99J47

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042281
AA Change: F38I

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000044924
Gene: ENSMUSG00000042569
AA Change: F38I

Domain	Start	End	E-Value	Type
transmembrane domain	22	41	N/A	INTRINSIC
Pfam:KR	53	239	3.9e-14	PFAM
Pfam:adh_short	53	251	1.5e-54	PFAM
Pfam:adh_short_C2	59	276	8.7e-17	PFAM
low complexity region	311	323	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108718
AA Change: F23I

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000104358
Gene: ENSMUSG00000042569
AA Change: F23I

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
Pfam:adh_short	38	209	3.8e-35	PFAM
Pfam:KR	38	225	7e-15	PFAM
Pfam:NAD_binding_10	40	265	2.2e-8	PFAM
Pfam:adh_short_C2	44	261	2.9e-17	PFAM
Pfam:DUF1776	131	290	1.9e-7	PFAM
low complexity region	296	308	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 90.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap mutation die by weaning age and exhibit esophageal and gastric lesions. Thymic atrophy and muscle degeneration is also seen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	C	10: 21,497,571 (GRCm39)	Y71H	possibly damaging	Het
Acsl6	C	A	11: 54,242,872 (GRCm39)	P628T	probably damaging	Het
Ak7	A	G	12: 105,734,807 (GRCm39)	D591G	probably benign	Het
Anxa5	T	C	3: 36,516,130 (GRCm39)	D66G	probably damaging	Het
Cacna1b	G	A	2: 24,496,721 (GRCm39)	T2283I	probably damaging	Het
Cand1	A	T	10: 119,045,919 (GRCm39)	D995E	possibly damaging	Het
Cblc	G	T	7: 19,530,427 (GRCm39)	A94E	probably damaging	Het
Cd48	G	A	1: 171,509,687 (GRCm39)	C9Y	probably benign	Het
Chd9	A	G	8: 91,721,224 (GRCm39)	K1004R	probably benign	Het
Cilk1	A	G	9: 78,057,919 (GRCm39)	Y156C	probably damaging	Het
Cldn1	T	C	16: 26,190,202 (GRCm39)	T59A	probably damaging	Het
Col11a1	G	A	3: 113,925,218 (GRCm39)	G17D	probably damaging	Het
Cpeb1	A	G	7: 81,085,995 (GRCm39)	V49A	probably damaging	Het
Cyp4b1	G	T	4: 115,498,855 (GRCm39)	P109Q	probably damaging	Het
Dnah9	C	A	11: 65,976,093 (GRCm39)	A1319S	probably benign	Het
Egf	A	T	3: 129,479,864 (GRCm39)	V553D	possibly damaging	Het
Fbn1	T	C	2: 125,183,199 (GRCm39)	D1760G	probably damaging	Het
Fbxo31	A	G	8: 122,286,745 (GRCm39)	F178L	probably damaging	Het
Fstl4	C	A	11: 52,891,117 (GRCm39)	S85*	probably null	Het
Gfm1	A	G	3: 67,345,977 (GRCm39)	Y225C	probably damaging	Het
Gm10797	A	T	10: 67,408,453 (GRCm39)		noncoding transcript	Het
H3c8	G	A	13: 23,719,721 (GRCm39)	V36M	probably damaging	Het
Heatr4	T	A	12: 84,020,495 (GRCm39)	I499L	probably benign	Het
Igfn1	A	T	1: 135,896,705 (GRCm39)	M1287K	probably benign	Het
Inpp5b	C	A	4: 124,677,696 (GRCm39)	D385E	probably damaging	Het
Lrrc9	A	G	12: 72,542,435 (GRCm39)		probably null	Het
Ltb4r1	A	G	14: 56,004,699 (GRCm39)	M1V	probably null	Het
Macf1	T	C	4: 123,365,327 (GRCm39)	I3145V	probably benign	Het
Man2a2	T	C	7: 80,017,450 (GRCm39)	N277S	probably damaging	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mgat4e	A	G	1: 134,469,016 (GRCm39)	Y343H	probably benign	Het
Noxred1	T	C	12: 87,268,029 (GRCm39)	*367W	probably null	Het
Nup58	A	T	14: 60,480,076 (GRCm39)	L190*	probably null	Het
Olfml2a	G	T	2: 38,841,275 (GRCm39)	K270N	probably damaging	Het
Or5c1	A	G	2: 37,222,774 (GRCm39)		probably null	Het
Or7g32	A	G	9: 19,389,495 (GRCm39)	L14P	probably damaging	Het
Phgdh	G	T	3: 98,223,725 (GRCm39)	Q359K	probably benign	Het
Plpp5	G	T	8: 26,212,604 (GRCm39)	C200F	possibly damaging	Het
Pole	A	C	5: 110,441,235 (GRCm39)	I230L	probably benign	Het
Prtg	A	T	9: 72,752,193 (GRCm39)	D193V	probably damaging	Het
Ptgs2	G	A	1: 149,979,619 (GRCm39)		probably null	Het
Ptprz1	A	T	6: 23,001,573 (GRCm39)	Q1221L	probably benign	Het
Rufy2	T	C	10: 62,831,151 (GRCm39)	I204T	probably benign	Het
Rybp	A	G	6: 100,209,919 (GRCm39)	S115P	possibly damaging	Het
Samd13	A	G	3: 146,368,481 (GRCm39)	V37A	probably benign	Het
Secisbp2l	T	G	2: 125,617,606 (GRCm39)	K24Q	probably damaging	Het
Sorbs2	A	G	8: 46,222,891 (GRCm39)	Y198C	probably damaging	Het
Svil	T	G	18: 5,117,099 (GRCm39)		probably null	Het
Ttc24	G	T	3: 87,977,366 (GRCm39)	R127S	probably benign	Het
Ttn	C	T	2: 76,588,888 (GRCm39)	V21394M	probably damaging	Het
Tubal3	G	T	13: 3,982,841 (GRCm39)	C207F	probably damaging	Het
Vmn2r16	A	T	5: 109,511,443 (GRCm39)	D550V	probably damaging	Het
Vmn2r2	T	A	3: 64,041,921 (GRCm39)	I265F	possibly damaging	Het
Zfp507	T	C	7: 35,494,858 (GRCm39)	K62E	probably damaging	Het

Other mutations in Dhrs7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01995:Dhrs7b	APN	11	60,721,541 (GRCm39)	missense	probably benign
IGL02074:Dhrs7b	APN	11	60,742,580 (GRCm39)	missense	probably benign
PIT4581001:Dhrs7b	UTSW	11	60,742,723 (GRCm39)	missense	possibly damaging	0.53
R0479:Dhrs7b	UTSW	11	60,746,513 (GRCm39)	splice site	probably benign
R0606:Dhrs7b	UTSW	11	60,721,572 (GRCm39)	splice site	probably benign
R1607:Dhrs7b	UTSW	11	60,742,717 (GRCm39)	missense	probably benign	0.13
R2679:Dhrs7b	UTSW	11	60,743,344 (GRCm39)	splice site	probably benign
R4928:Dhrs7b	UTSW	11	60,742,751 (GRCm39)	missense	probably benign	0.07
R5977:Dhrs7b	UTSW	11	60,743,328 (GRCm39)	nonsense	probably null
R7207:Dhrs7b	UTSW	11	60,746,623 (GRCm39)	nonsense	probably null
R7270:Dhrs7b	UTSW	11	60,735,055 (GRCm39)	missense	probably benign
R7861:Dhrs7b	UTSW	11	60,746,568 (GRCm39)	missense	probably damaging	1.00
R7983:Dhrs7b	UTSW	11	60,743,287 (GRCm39)	missense	possibly damaging	0.95
R8272:Dhrs7b	UTSW	11	60,742,580 (GRCm39)	missense	probably benign
R9418:Dhrs7b	UTSW	11	60,746,594 (GRCm39)	missense	probably damaging	0.98
R9609:Dhrs7b	UTSW	11	60,735,121 (GRCm39)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- AGATTTGCTCGGTACAAGGAGCTG -3'
(R):5'- AGACTTGCTCACTGCTCACATGC -3'

Sequencing Primer
(F):5'- CCCTAGTTCATTGTATGGAGAAGC -3'
(R):5'- GTTCCAACTGGACTACGGACAG -3'

Posted On

2014-04-24