Mutagenetix > Incidental Mutations

Incidental Mutation 'R7721:Rdh1'

595234

Institutional Source

Beutler Lab

Gene Symbol

Rdh1

Ensembl Gene

ENSMUSG00000089789

Gene Name

retinol dehydrogenase 1 (all trans)

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R7721 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

127759721-127768297 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 127760252 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000073322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073639] [ENSMUST00000128247]

AlphaFold

Q8CGV4

Predicted Effect

probably null
Transcript: ENSMUST00000073639

SMART Domains

Protein: ENSMUSP00000073322
Gene: ENSMUSG00000089789

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:adh_short	30	222	5.7e-43	PFAM
Pfam:DUF1776	43	303	3.3e-7	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000128247

SMART Domains

Protein: ENSMUSP00000116574
Gene: ENSMUSG00000099009

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:adh_short	30	195	1.7e-23	PFAM
Pfam:DUF1776	43	303	3.3e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (51/52)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit increased body weight, adipose tissue, and retinol levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630095E13Rik	C	T	9: 36,637,863	G34R	possibly damaging	Het
Acad10	T	C	5: 121,646,866		probably null	Het
Adamtsl3	T	G	7: 82,606,520	M1580R	possibly damaging	Het
Alg9	T	C	9: 50,776,642	I78T	probably damaging	Het
Ankmy2	G	T	12: 36,157,144		probably benign	Het
Ankrd11	G	T	8: 122,894,759	L785M	probably damaging	Het
Atrnl1	T	A	19: 57,696,331	D796E	probably benign	Het
C1s2	A	G	6: 124,630,058	V277A	possibly damaging	Het
Cldn15	A	G	5: 136,968,161	M19V	probably benign	Het
Cldn23	T	G	8: 35,826,263	S24R	possibly damaging	Het
Cnr1	T	A	4: 33,944,416	I268N	probably damaging	Het
Csf2ra	A	T	19: 61,226,586	W147R	probably damaging	Het
Ctsb	G	T	14: 63,133,316		probably benign	Het
D430041D05Rik	A	G	2: 104,258,529	M34T	probably benign	Het
Dmtf1	T	C	5: 9,126,564	I463V	probably damaging	Het
Dnah7a	T	A	1: 53,631,683	D470V	probably benign	Het
Dtx4	A	G	19: 12,482,136	S435P	probably benign	Het
Ear2	T	A	14: 44,103,038	M51K	probably damaging	Het
Elmo1	T	A	13: 20,280,803		probably null	Het
Faf1	T	A	4: 109,736,597	I124N	probably damaging	Het
Gkap1	A	C	13: 58,236,985		probably null	Het
Glipr2	T	C	4: 43,957,770	S4P	probably benign	Het
Gm11639	T	A	11: 104,724,540	L711*	probably null	Het
Gm38119	A	T	3: 92,738,030	C86S	unknown	Het
Gm6583	A	G	5: 112,355,517	I107T	probably benign	Het
Gpr171	T	G	3: 59,097,899	I152L	probably benign	Het
Hes7	T	A	11: 69,121,526	T9S	unknown	Het
Homer3	T	C	8: 70,291,012	V180A	probably benign	Het
Irx1	T	A	13: 71,960,057	M169L	probably benign	Het
Kap	A	G	6: 133,851,727		probably null	Het
Mgat5b	A	G	11: 116,966,801	M2V		Het
Mob4	C	T	1: 55,148,320	Q76*	probably null	Het
Olfr1493-ps1	T	A	19: 13,726,843	I194N	possibly damaging	Het
Olfr911-ps1	A	T	9: 38,523,717		probably null	Het
Olfr943	A	G	9: 39,184,760	D191G	probably benign	Het
Pcdha9	A	T	18: 36,999,636	Q586L	probably benign	Het
Pgk2	T	A	17: 40,207,518	I340F	probably benign	Het
Prex1	G	A	2: 166,577,890	Q1289*	probably null	Het
Prr22	A	G	17: 56,771,819	D324G	possibly damaging	Het
Rab2b	A	T	14: 52,263,760	S201T	probably benign	Het
Rhbdl1	G	T	17: 25,836,149	N82K	probably benign	Het
Rspo1	C	A	4: 124,991,417	Q29K	possibly damaging	Het
Rtp3	A	T	9: 110,985,880	Y472*	probably null	Het
Senp5	T	A	16: 31,990,434	M1L	unknown	Het
Slfn4	A	T	11: 83,187,563		probably null	Het
Stab1	A	G	14: 31,141,456	V2091A	possibly damaging	Het
Stk32c	A	G	7: 139,188,153	S71P	possibly damaging	Het
Tpr	A	G	1: 150,444,429	T2243A	probably benign	Het
Tubgcp6	A	T	15: 89,101,401	N1544K	probably damaging	Het
Uqcc1	T	C	2: 155,858,146	N202S	probably benign	Het
Vmn2r18	C	T	5: 151,586,693	E72K	possibly damaging	Het
Zfp654	C	A	16: 64,786,207	C3F	probably damaging	Het
Zfp804b	T	C	5: 6,771,263	E600G	possibly damaging	Het

Other mutations in Rdh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02745:Rdh1	APN	10	127765419	missense	probably benign	0.06
R0077:Rdh1	UTSW	10	127760037	missense	probably damaging	1.00
R0481:Rdh1	UTSW	10	127763124	missense	probably damaging	1.00
R0511:Rdh1	UTSW	10	127764783	missense	probably benign
R0558:Rdh1	UTSW	10	127759941	missense	possibly damaging	0.88
R1569:Rdh1	UTSW	10	127763072	missense	probably benign
R1993:Rdh1	UTSW	10	127765345	missense	probably benign
R2164:Rdh1	UTSW	10	127760172	missense	possibly damaging	0.89
R3021:Rdh1	UTSW	10	127760208	missense	possibly damaging	0.91
R5268:Rdh1	UTSW	10	127759963	missense	possibly damaging	0.67
R6126:Rdh1	UTSW	10	127763214	missense	probably damaging	1.00
R6216:Rdh1	UTSW	10	127764753	missense	probably benign	0.00
R7017:Rdh1	UTSW	10	127763037	missense	probably benign	0.02
R7332:Rdh1	UTSW	10	127759885	start gained	probably benign
R7397:Rdh1	UTSW	10	127760178	missense	probably benign	0.24
R7724:Rdh1	UTSW	10	127764707	missense	possibly damaging	0.46
R7873:Rdh1	UTSW	10	127760023	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GTGACTCTGGCTTTGGGAAC -3'
(R):5'- GGCACCTTCTTACCAAGACC -3'

Sequencing Primer
(F):5'- AACCTGCTGGCCAGACAG -3'
(R):5'- TTCTTACCAAGACCAGAGCACTTGG -3'

Posted On

2019-11-12