Mutagenetix > Incidental Mutation

Incidental Mutation 'R4544:Rdh16f1'

333688

Institutional Source

Beutler Lab

Gene Symbol

Rdh16f1

Ensembl Gene

ENSMUSG00000099009

Gene Name

RDH16 family member 1

Synonyms

Gm28046

MMRRC Submission

041779-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R4544 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127595656-127628563 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127626706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 253 (L253S)

Ref Sequence

ENSEMBL: ENSMUSP00000116574 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000052652
AA Change: L253S

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

SMART Domains

Protein: ENSMUSP00000057732
Gene: ENSMUSG00000056148
AA Change: L253S

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 benign
Transcript: ENSMUST00000128247
AA Change: L253S

PolyPhen 2 Score 0.130 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000116574
Gene: ENSMUSG00000099009
AA Change: L253S

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c20	A	C	13: 4,557,843 (GRCm39)	V201G	probably damaging	Het
Alg9	C	T	9: 50,716,654 (GRCm39)	T409M	possibly damaging	Het
Atf7	A	G	15: 102,442,762 (GRCm39)	V449A	probably benign	Het
C1s1	A	G	6: 124,508,499 (GRCm39)	S497P	probably benign	Het
Ccnyl1	G	T	1: 64,762,735 (GRCm39)	M347I	probably benign	Het
Chil4	C	A	3: 106,117,922 (GRCm39)	R116L	probably damaging	Het
Cmpk2	A	G	12: 26,528,016 (GRCm39)	E411G	probably damaging	Het
Cmya5	G	A	13: 93,228,426 (GRCm39)	R2221*	probably null	Het
Csmd1	A	T	8: 16,760,652 (GRCm39)	F161Y	possibly damaging	Het
Cspg4	T	A	9: 56,795,913 (GRCm39)	L1216Q	possibly damaging	Het
Dppa3	A	G	6: 122,603,726 (GRCm39)		probably benign	Het
Ednra	A	G	8: 78,401,540 (GRCm39)		probably null	Het
Fancd2	A	G	6: 113,549,603 (GRCm39)		probably null	Het
Fastkd1	C	T	2: 69,542,655 (GRCm39)	E51K	probably damaging	Het
Fndc1	T	A	17: 7,992,376 (GRCm39)	D440V	unknown	Het
Gm9934	A	G	7: 92,702,188 (GRCm39)		noncoding transcript	Het
Hdac1-ps	A	T	17: 78,800,388 (GRCm39)	T460S	probably benign	Het
Ifi205	T	C	1: 173,854,139 (GRCm39)	I171M	possibly damaging	Het
Ifi213	T	C	1: 173,409,693 (GRCm39)		probably null	Het
Insig2	A	T	1: 121,239,921 (GRCm39)		probably benign	Het
Kdm7a	T	C	6: 39,152,406 (GRCm39)	R97G	probably benign	Het
Krt23	G	A	11: 99,369,102 (GRCm39)	T397M	probably benign	Het
Lepr	G	A	4: 101,625,425 (GRCm39)	V527I	possibly damaging	Het
Lmo2	C	T	2: 103,806,382 (GRCm39)	P25L	probably damaging	Het
Lsr	C	T	7: 30,671,401 (GRCm39)	V111M	probably damaging	Het
Mest	T	C	6: 30,740,679 (GRCm39)	W13R	probably damaging	Het
Mfn2	A	G	4: 147,971,909 (GRCm39)	V224A	probably benign	Het
Mkx	T	C	18: 7,000,651 (GRCm39)	Y97C	probably damaging	Het
Mndal	A	T	1: 173,703,230 (GRCm39)	Y58*	probably null	Het
Myo9b	T	C	8: 71,780,585 (GRCm39)	V494A	probably damaging	Het
Nek1	C	T	8: 61,469,338 (GRCm39)	Q132*	probably null	Het
Or2a12	C	T	6: 42,904,348 (GRCm39)	S61L	probably damaging	Het
Or6c5	A	C	10: 129,074,027 (GRCm39)	N3T	probably damaging	Het
Osbpl6	T	C	2: 76,414,836 (GRCm39)	V409A	possibly damaging	Het
Pde8a	A	T	7: 80,977,847 (GRCm39)	R713S	probably damaging	Het
Pex10	T	C	4: 155,154,952 (GRCm39)	Y235H	probably benign	Het
Pik3cb	T	A	9: 98,921,812 (GRCm39)	K1050I	probably damaging	Het
Prss56	A	G	1: 87,112,364 (GRCm39)	D85G	probably damaging	Het
Psg26	T	C	7: 18,212,464 (GRCm39)	N297S	probably damaging	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Slc7a8	C	G	14: 54,973,247 (GRCm39)	G240A	possibly damaging	Het
Slc8b1	G	A	5: 120,669,218 (GRCm39)		probably null	Het
Sorbs1	G	A	19: 40,300,294 (GRCm39)	T575M	probably damaging	Het
Syne3	T	A	12: 104,925,728 (GRCm39)	K313M	probably damaging	Het
Tas2r108	A	G	6: 40,470,742 (GRCm39)	T73A	probably benign	Het
Ttn	T	C	2: 76,652,932 (GRCm39)		probably null	Het
Uba52rt	C	T	4: 3,973,244 (GRCm39)	R106H	probably benign	Het
Ubr3	G	A	2: 69,786,437 (GRCm39)	M850I	probably benign	Het
Vmn2r78	A	T	7: 86,570,399 (GRCm39)	M306L	probably benign	Het
Vmn2r9	T	G	5: 108,995,551 (GRCm39)	M366L	probably benign	Het
Zan	C	G	5: 137,382,096 (GRCm39)	M5150I	unknown	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
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
R5832:Rdh16f1	UTSW	10	127,624,618 (GRCm39)	missense	probably damaging	0.99
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'- GGTCCTTTTGAGGAACTAGGACAG -3'
(R):5'- TACATCTCCCCAGGTATGCAC -3'

Sequencing Primer
(F):5'- CCTTTTGAGGAACTAGGACAGGCTAG -3'
(R):5'- TGAACACGTCAGAGGGCTTTCTC -3'

Posted On

2015-08-18