Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01369:Rdh16f1'

76041

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rdh16f1

Ensembl Gene

ENSMUSG00000099009

Gene Name

RDH16 family member 1

Synonyms

Gm28046

Accession Numbers

Essential gene?

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

Stock #

IGL01369

Quality Score

Status

Chromosome

Chromosomal Location

127595656-127628563 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 127595844 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 13 (T13K)

Ref Sequence

ENSEMBL: ENSMUSP00000116574 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000073639
AA Change: T13K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000073322
Gene: ENSMUSG00000089789
AA Change: T13K

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 benign
Transcript: ENSMUST00000128247
AA Change: T13K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116574
Gene: ENSMUSG00000099009
AA Change: T13K

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	T	C	4: 144,401,215 (GRCm39)	T90A	possibly damaging	Het
Abi2	A	G	1: 60,476,215 (GRCm39)	T96A	probably damaging	Het
Adam34	T	A	8: 44,104,094 (GRCm39)	K517M	probably benign	Het
Atm	A	T	9: 53,426,617 (GRCm39)	I547N	probably benign	Het
Cadm4	A	T	7: 24,198,947 (GRCm39)	D74V	possibly damaging	Het
Caprin1	G	A	2: 103,599,210 (GRCm39)	P46S	probably damaging	Het
Cbl	A	T	9: 44,112,358 (GRCm39)	Y112*	probably null	Het
Ccdc180	T	C	4: 45,900,256 (GRCm39)	V246A	probably benign	Het
Chd1	A	T	17: 15,975,259 (GRCm39)	E1103V	probably damaging	Het
Clock	G	A	5: 76,384,933 (GRCm39)	P428L	probably benign	Het
Cntn2	T	A	1: 132,443,843 (GRCm39)	I979F	probably benign	Het
Col2a1	A	G	15: 97,875,707 (GRCm39)	S1193P	unknown	Het
Fga	A	T	3: 82,937,507 (GRCm39)	Y128F	probably benign	Het
Glyr1	A	T	16: 4,838,152 (GRCm39)	D365E	probably benign	Het
Gmppb	G	A	9: 107,928,446 (GRCm39)		probably null	Het
Gmps	A	T	3: 63,909,013 (GRCm39)	H505L	probably benign	Het
Hexim2	A	G	11: 103,029,464 (GRCm39)	N172S	probably benign	Het
Hmgcr	T	C	13: 96,803,030 (GRCm39)	E65G	probably null	Het
Hsd17b4	T	C	18: 50,305,100 (GRCm39)	S446P	possibly damaging	Het
Kirrel3	C	T	9: 34,927,737 (GRCm39)	T382I	probably benign	Het
Klra7	A	T	6: 130,203,498 (GRCm39)	Y169*	probably null	Het
Lmbrd1	T	C	1: 24,745,055 (GRCm39)		probably benign	Het
Loxhd1	A	G	18: 77,416,897 (GRCm39)	E211G	possibly damaging	Het
Maf1	T	A	15: 76,236,892 (GRCm39)	F44I	probably damaging	Het
Mmd2	A	G	5: 142,560,984 (GRCm39)	S84P	probably damaging	Het
Morc2b	T	C	17: 33,357,139 (GRCm39)	E211G	probably benign	Het
Mov10l1	T	C	15: 88,909,040 (GRCm39)		probably benign	Het
Mycbp2	C	A	14: 103,392,946 (GRCm39)	C3205F	possibly damaging	Het
Myg1	G	A	15: 102,242,773 (GRCm39)	V155M	probably benign	Het
Ncam2	A	G	16: 81,258,459 (GRCm39)	N247S	probably benign	Het
Nek11	A	G	9: 105,177,259 (GRCm39)		probably null	Het
Nt5dc3	T	A	10: 86,656,139 (GRCm39)		probably benign	Het
Nudcd3	A	G	11: 6,100,551 (GRCm39)	Y134H	probably damaging	Het
Ogfod1	T	C	8: 94,789,719 (GRCm39)		probably null	Het
Or5b99	A	T	19: 12,977,125 (GRCm39)	L258F	possibly damaging	Het
Orm2	T	C	4: 63,281,215 (GRCm39)	V51A	probably benign	Het
P2ry14	T	C	3: 59,022,756 (GRCm39)	I244V	probably damaging	Het
Poll	A	G	19: 45,542,115 (GRCm39)	V397A	probably damaging	Het
Ppdpf	C	A	2: 180,829,687 (GRCm39)		probably benign	Het
Ptch1	T	C	13: 63,659,495 (GRCm39)	E1249G	probably benign	Het
Rrp1	G	A	10: 78,240,905 (GRCm39)		probably benign	Het
Sec14l2	A	G	11: 4,053,432 (GRCm39)	M346T	probably benign	Het
Sh2d2a	A	T	3: 87,759,136 (GRCm39)	Q246L	probably benign	Het
Slc44a1	G	A	4: 53,491,448 (GRCm39)	D62N	probably damaging	Het
Snx22	A	G	9: 65,976,060 (GRCm39)	Y58H	probably damaging	Het
Spata31f1a	T	C	4: 42,852,548 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,599,779 (GRCm39)	D19104V	probably damaging	Het
Ugt2a3	T	C	5: 87,474,979 (GRCm39)	S422G	probably damaging	Het
Zfyve19	G	T	2: 119,041,094 (GRCm39)		probably benign	Het

Other mutations in Rdh16f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-10-07