Mutagenetix > Incidental Mutation

Incidental Mutation 'R5832:Rdh16f1'

449365

Institutional Source

Beutler Lab

Gene Symbol

Rdh16f1

Ensembl Gene

ENSMUSG00000099009

Gene Name

RDH16 family member 1

Synonyms

Gm28046

MMRRC Submission

044054-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R5832 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127595656-127628563 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 127624618 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 152 (V152E)

Ref Sequence

ENSEMBL: ENSMUSP00000116574 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052652] [ENSMUST00000128247]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000052652
AA Change: V152E

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000057732
Gene: ENSMUSG00000056148
AA Change: V152E

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:adh_short	30	220	3.1e-41	PFAM
Pfam:DUF1776	43	303	5.7e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128133

Predicted Effect

probably damaging
Transcript: ENSMUST00000128247
AA Change: V152E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116574
Gene: ENSMUSG00000099009
AA Change: V152E

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: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Adgrv1	G	A	13: 81,251,421 (GRCm39)	S6232F	possibly damaging	Het
Alox12	T	C	11: 70,144,106 (GRCm39)	E129G	probably damaging	Het
Anxa13	C	A	15: 58,205,389 (GRCm39)		noncoding transcript	Het
Arfgef3	C	T	10: 18,506,168 (GRCm39)	G878D	probably damaging	Het
Asnsd1	T	C	1: 53,386,634 (GRCm39)	D331G	probably damaging	Het
Crisp1	A	G	17: 40,612,208 (GRCm39)		probably null	Het
Eml5	T	C	12: 98,842,447 (GRCm39)	N217S	probably benign	Het
Fat1	A	T	8: 45,470,460 (GRCm39)	Y1463F	possibly damaging	Het
Fhod3	T	C	18: 25,223,752 (GRCm39)	W1033R	probably damaging	Het
Galr2	T	A	11: 116,172,457 (GRCm39)	L49Q	probably damaging	Het
Gstm5	T	C	3: 107,804,853 (GRCm39)	V115A	probably benign	Het
Gtpbp2	C	T	17: 46,478,788 (GRCm39)	T535I	probably damaging	Het
Hk1	T	C	10: 62,128,144 (GRCm39)	E326G	probably benign	Het
Igfn1	A	G	1: 135,902,533 (GRCm39)	V388A	probably damaging	Het
Iqgap2	C	T	13: 95,811,880 (GRCm39)	R707H	probably damaging	Het
Kitl	C	A	10: 99,915,882 (GRCm39)	P137H	probably damaging	Het
Lamp3	A	T	16: 19,520,070 (GRCm39)	Y38N	probably damaging	Het
Lmo7	A	T	14: 102,121,649 (GRCm39)	N5I	probably damaging	Het
Mc3r	T	A	2: 172,091,350 (GRCm39)	C191S	probably benign	Het
Mep1a	G	A	17: 43,789,055 (GRCm39)	H574Y	probably benign	Het
Mybpc3	A	G	2: 90,949,520 (GRCm39)		probably null	Het
Nav2	A	T	7: 49,197,817 (GRCm39)		probably null	Het
Patz1	C	T	11: 3,256,277 (GRCm39)	P521L	probably benign	Het
Pramel14	A	G	4: 143,718,532 (GRCm39)	S304P	probably damaging	Het
Prkcd	T	C	14: 30,327,778 (GRCm39)	T103A	probably damaging	Het
Pttg1ip	T	C	10: 77,419,859 (GRCm39)		probably null	Het
Rcbtb2	C	A	14: 73,404,262 (GRCm39)	Q85K	possibly damaging	Het
Rsph4a	A	G	10: 33,785,498 (GRCm39)	I470V	probably benign	Het
Sarnp	T	C	10: 128,684,181 (GRCm39)		probably null	Het
Slc39a6	C	A	18: 24,734,669 (GRCm39)	V7L	possibly damaging	Het
Slco1a4	A	G	6: 141,765,270 (GRCm39)	I324T	probably benign	Het
Spata31d1a	A	T	13: 59,849,380 (GRCm39)	V916E	probably damaging	Het
Srgap1	T	G	10: 121,676,819 (GRCm39)	T392P	probably damaging	Het
Tbc1d20	A	T	2: 152,153,282 (GRCm39)	M271L	possibly damaging	Het
Tbc1d22b	T	C	17: 29,789,621 (GRCm39)	I161T	possibly damaging	Het
Tcof1	G	T	18: 60,952,611 (GRCm39)	N918K	unknown	Het
Tnr	A	G	1: 159,713,692 (GRCm39)	T707A	probably benign	Het
Trim66	A	G	7: 109,054,409 (GRCm39)	F1267S	probably damaging	Het
Trpm6	A	G	19: 18,764,183 (GRCm39)	H263R	possibly damaging	Het
Tshz2	T	A	2: 169,725,965 (GRCm39)	V187D	possibly damaging	Het
Ube2f	T	G	1: 91,213,046 (GRCm39)	V176G	possibly damaging	Het
Vmn2r109	C	T	17: 20,761,318 (GRCm39)	A680T	probably benign	Het
Vmn2r77	T	A	7: 86,460,670 (GRCm39)	C665*	probably null	Het
Zfp954	A	G	7: 7,118,389 (GRCm39)	V385A	probably damaging	Het

Other mutations in Rdh16f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01369:Rdh16f1	APN	10	127,595,844 (GRCm39)	missense	probably benign	0.00
R0445:Rdh16f1	UTSW	10	127,626,736 (GRCm39)	missense	probably benign	0.18
R1623:Rdh16f1	UTSW	10	127,626,722 (GRCm39)	missense	probably benign	0.00
R2336:Rdh16f1	UTSW	10	127,624,624 (GRCm39)	missense	probably benign	0.08
R3808:Rdh16f1	UTSW	10	127,624,569 (GRCm39)	missense	probably damaging	1.00
R3808:Rdh16f1	UTSW	10	127,624,568 (GRCm39)	missense	probably benign	0.03
R4544:Rdh16f1	UTSW	10	127,626,706 (GRCm39)	missense	probably benign	0.13
R4745:Rdh16f1	UTSW	10	127,626,685 (GRCm39)	missense	probably benign	0.03
R5005:Rdh16f1	UTSW	10	127,624,546 (GRCm39)	missense	probably benign	0.14
R6923:Rdh16f1	UTSW	10	127,624,737 (GRCm39)	critical splice donor site	probably null
R6927:Rdh16f1	UTSW	10	127,624,561 (GRCm39)	missense	probably benign	0.28
R7008:Rdh16f1	UTSW	10	127,626,775 (GRCm39)	missense	probably benign	0.06
R8458:Rdh16f1	UTSW	10	127,624,714 (GRCm39)	missense	probably damaging	1.00
Z1088:Rdh16f1	UTSW	10	127,624,702 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCCTGTGTTGTGTGACTC -3'
(R):5'- TGGCCAGTGAATGATTCAGG -3'

Sequencing Primer
(F):5'- TGTGTTGTGTGACTCTCTCC -3'
(R):5'- CTCCTTCCGATGATGTGACTTAAAG -3'

Posted On

2016-12-20