Mutagenetix > Incidental Mutation

Incidental Mutation 'R5448:Rdh16f2'

429182

Institutional Source

Beutler Lab

Gene Symbol

Rdh16f2

Ensembl Gene

ENSMUSG00000074639

Gene Name

RDH16 family member 2

Synonyms

BC089597

MMRRC Submission

043013-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5448 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127702345-127713188 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127712932 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 310 (T310I)

Ref Sequence

ENSEMBL: ENSMUSP00000089691 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092058]

AlphaFold

Q8K3M1

Predicted Effect

probably benign
Transcript: ENSMUST00000092058
AA Change: T310I

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000089691
Gene: ENSMUSG00000074639
AA Change: T310I

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
Pfam:adh_short	30	221	4.8e-44	PFAM
Pfam:KR	31	206	4e-7	PFAM
Pfam:DUF1776	43	304	6.8e-10	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Actn3	T	C	19: 4,913,239 (GRCm39)	D699G	possibly damaging	Het
C1galt1	C	T	6: 7,866,658 (GRCm39)	A168V	possibly damaging	Het
Ccdc180	A	T	4: 45,920,913 (GRCm39)	E953V	probably damaging	Het
Ccdc88b	T	A	19: 6,831,948 (GRCm39)	D411V	probably damaging	Het
Cdadc1	T	A	14: 59,811,275 (GRCm39)	I412L	possibly damaging	Het
Clip2	T	C	5: 134,542,902 (GRCm39)	N424D	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Fbxo38	A	T	18: 62,655,528 (GRCm39)	I386N	possibly damaging	Het
Gm9887	C	A	12: 69,418,865 (GRCm39)		probably benign	Het
Itgae	T	C	11: 73,024,734 (GRCm39)		probably null	Het
Klhl2	C	A	8: 65,275,642 (GRCm39)		probably null	Het
Krt1	T	A	15: 101,757,464 (GRCm39)	K249*	probably null	Het
L3mbtl2	T	C	15: 81,568,534 (GRCm39)	Y513H	possibly damaging	Het
Maml2	A	C	9: 13,617,763 (GRCm39)	S370R	probably damaging	Het
Or1e35	T	C	11: 73,797,437 (GRCm39)	N294D	probably damaging	Het
Or4c112	T	G	2: 88,853,845 (GRCm39)	L167F	probably benign	Het
Pcnx2	T	C	8: 126,614,888 (GRCm39)	T188A	probably benign	Het
Pde6c	A	G	19: 38,121,623 (GRCm39)	E77G	probably damaging	Het
Pgr	A	G	9: 8,922,638 (GRCm39)	I603V	probably benign	Het
Plce1	T	C	19: 38,768,361 (GRCm39)	V2212A	probably damaging	Het
Ppl	C	T	16: 4,925,430 (GRCm39)	A70T	probably benign	Het
Prpf40a	G	T	2: 53,046,938 (GRCm39)	T266N	possibly damaging	Het
Prrx1	T	C	1: 163,075,867 (GRCm39)	E233G	probably damaging	Het
Rfx6	T	C	10: 51,559,733 (GRCm39)	S187P	probably damaging	Het
Scn10a	A	T	9: 119,517,013 (GRCm39)	F135I	probably benign	Het
Shld2	G	A	14: 33,990,327 (GRCm39)	T193I	probably benign	Het
Slc24a1	A	G	9: 64,855,609 (GRCm39)	F433L	probably benign	Het
Slfn3	T	A	11: 83,105,431 (GRCm39)	L476Q	probably damaging	Het
Tmem8b	G	A	4: 43,673,992 (GRCm39)	V208I	probably benign	Het
Trappc1	T	C	11: 69,216,361 (GRCm39)	S136P	probably benign	Het
Tshz3	A	G	7: 36,470,654 (GRCm39)	E881G	possibly damaging	Het
Ubash3b	A	G	9: 40,948,731 (GRCm39)		probably null	Het
Wdtc1	G	A	4: 133,021,608 (GRCm39)	A642V	probably benign	Het
Zdhhc22	T	C	12: 87,035,341 (GRCm39)	D37G	possibly damaging	Het

Other mutations in Rdh16f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Rdh16f2	APN	10	127,702,533 (GRCm39)	missense	probably damaging	1.00
IGL00780:Rdh16f2	APN	10	127,710,961 (GRCm39)	critical splice donor site	probably null
R1448:Rdh16f2	UTSW	10	127,712,794 (GRCm39)	missense	probably benign
R1757:Rdh16f2	UTSW	10	127,712,765 (GRCm39)	missense	probably benign	0.01
R2245:Rdh16f2	UTSW	10	127,712,145 (GRCm39)	missense	probably damaging	1.00
R2484:Rdh16f2	UTSW	10	127,710,946 (GRCm39)	missense	probably damaging	1.00
R3613:Rdh16f2	UTSW	10	127,710,808 (GRCm39)	missense	probably benign	0.38
R4828:Rdh16f2	UTSW	10	127,710,823 (GRCm39)	missense	probably benign	0.09
R5109:Rdh16f2	UTSW	10	127,702,672 (GRCm39)	missense	probably damaging	1.00
R5153:Rdh16f2	UTSW	10	127,712,124 (GRCm39)	missense	possibly damaging	0.96
R5420:Rdh16f2	UTSW	10	127,712,943 (GRCm39)	missense	possibly damaging	0.94
R5492:Rdh16f2	UTSW	10	127,702,623 (GRCm39)	nonsense	probably null
R5769:Rdh16f2	UTSW	10	127,712,758 (GRCm39)	missense	probably benign	0.01
R5863:Rdh16f2	UTSW	10	127,712,256 (GRCm39)	missense	probably benign
R6003:Rdh16f2	UTSW	10	127,712,201 (GRCm39)	missense	probably benign	0.02
R6063:Rdh16f2	UTSW	10	127,712,743 (GRCm39)	missense	probably benign	0.01
R7365:Rdh16f2	UTSW	10	127,712,893 (GRCm39)	missense	probably damaging	0.98
R7446:Rdh16f2	UTSW	10	127,712,767 (GRCm39)	missense	probably benign
R8305:Rdh16f2	UTSW	10	127,712,864 (GRCm39)	missense	probably damaging	1.00
R8911:Rdh16f2	UTSW	10	127,712,812 (GRCm39)	missense	probably damaging	1.00
R9357:Rdh16f2	UTSW	10	127,712,915 (GRCm39)	missense	possibly damaging	0.62
X0023:Rdh16f2	UTSW	10	127,702,675 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2016-09-06