Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03094:Akr1c19'

418482

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Akr1c19

Ensembl Gene

ENSMUSG00000071551

Gene Name

aldo-keto reductase family 1, member C19

Synonyms

1810010N06Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03094

Quality Score

Status

Chromosome

Chromosomal Location

4283499-4298360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4286184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 61 (V61I)

Ref Sequence

ENSEMBL: ENSMUSP00000112666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081326] [ENSMUST00000118663]

AlphaFold

G3X9Y6

Predicted Effect

probably benign
Transcript: ENSMUST00000081326
AA Change: V61I

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000080074
Gene: ENSMUSG00000071551
AA Change: V61I

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	18	301	1.4e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118663
AA Change: V61I

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000112666
Gene: ENSMUSG00000071551
AA Change: V61I

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	18	301	9.9e-67	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,074,938 (GRCm39)	N1375S	probably benign	Het
Adamts15	A	T	9: 30,815,768 (GRCm39)		probably benign	Het
Ahnak	G	A	19: 8,980,911 (GRCm39)	V732M	possibly damaging	Het
BC025920	C	A	10: 81,444,906 (GRCm39)	R10S	probably benign	Het
Cdh11	T	C	8: 103,385,035 (GRCm39)	I347V	probably benign	Het
Cyp11b2	A	G	15: 74,724,886 (GRCm39)		probably null	Het
Cyp4a31	T	A	4: 115,435,305 (GRCm39)		probably benign	Het
Emilin3	G	A	2: 160,750,649 (GRCm39)	Q320*	probably null	Het
Glra3	C	A	8: 56,578,207 (GRCm39)	H421Q	probably benign	Het
Gtf2f1	T	C	17: 57,314,049 (GRCm39)	N145S	probably damaging	Het
Hsd17b12	A	T	2: 93,864,339 (GRCm39)	V256E	probably damaging	Het
Ighv1-34	C	T	12: 114,814,958 (GRCm39)	G68E	probably damaging	Het
Ipo5	T	C	14: 121,181,089 (GRCm39)		probably benign	Het
Knop1	T	A	7: 118,452,374 (GRCm39)	D63V	possibly damaging	Het
Krt39	T	C	11: 99,411,628 (GRCm39)		probably benign	Het
Ldhb	T	C	6: 142,451,253 (GRCm39)	K5R	probably benign	Het
Loxhd1	A	T	18: 77,518,809 (GRCm39)	I1872F	possibly damaging	Het
Lrfn5	A	G	12: 61,886,532 (GRCm39)	N107D	probably benign	Het
Mks1	A	G	11: 87,746,291 (GRCm39)		probably benign	Het
Nup93	C	T	8: 95,023,130 (GRCm39)	T236I	probably benign	Het
Olig3	T	C	10: 19,232,878 (GRCm39)	S168P	probably benign	Het
Or1i2	A	G	10: 78,447,953 (GRCm39)	I174T	possibly damaging	Het
Pcna	C	T	2: 132,093,673 (GRCm39)	E109K	probably benign	Het
Per3	A	C	4: 151,093,755 (GRCm39)	I1020R	probably damaging	Het
Plbd2	T	C	5: 120,624,845 (GRCm39)	N441S	probably damaging	Het
Plec	A	G	15: 76,075,519 (GRCm39)	S398P	probably damaging	Het
Ppm1m	T	G	9: 106,073,610 (GRCm39)	K314T	probably damaging	Het
Prmt2	T	A	10: 76,046,224 (GRCm39)		probably benign	Het
Rbm19	T	C	5: 120,261,023 (GRCm39)	S216P	probably damaging	Het
Sart1	A	G	19: 5,434,109 (GRCm39)		probably benign	Het
Tmem225	A	T	9: 40,059,682 (GRCm39)	I21L	possibly damaging	Het
Tnnt2	T	C	1: 135,777,200 (GRCm39)		probably null	Het
Trappc10	A	T	10: 78,064,754 (GRCm39)		probably benign	Het
Trip13	A	G	13: 74,081,075 (GRCm39)	L97P	probably benign	Het
Zmat2	T	G	18: 36,929,119 (GRCm39)	V89G	probably damaging	Het

Other mutations in Akr1c19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00663:Akr1c19	APN	13	4,298,128 (GRCm39)	utr 3 prime	probably benign
IGL01522:Akr1c19	APN	13	4,289,098 (GRCm39)	splice site	probably benign
IGL01625:Akr1c19	APN	13	4,283,816 (GRCm39)	missense	probably damaging	1.00
IGL02863:Akr1c19	APN	13	4,287,112 (GRCm39)	nonsense	probably null
IGL03232:Akr1c19	APN	13	4,288,462 (GRCm39)	missense	probably damaging	0.96
R0504:Akr1c19	UTSW	13	4,286,250 (GRCm39)	missense	possibly damaging	0.83
R0538:Akr1c19	UTSW	13	4,287,099 (GRCm39)	missense	probably damaging	1.00
R0607:Akr1c19	UTSW	13	4,288,459 (GRCm39)	missense	probably benign	0.09
R2068:Akr1c19	UTSW	13	4,288,391 (GRCm39)	critical splice acceptor site	probably null
R3701:Akr1c19	UTSW	13	4,293,032 (GRCm39)	missense	probably damaging	1.00
R3893:Akr1c19	UTSW	13	4,288,441 (GRCm39)	missense	probably damaging	1.00
R4369:Akr1c19	UTSW	13	4,283,779 (GRCm39)	nonsense	probably null
R4434:Akr1c19	UTSW	13	4,292,615 (GRCm39)	missense	probably benign	0.28
R5545:Akr1c19	UTSW	13	4,292,594 (GRCm39)	missense	probably benign	0.01
R5584:Akr1c19	UTSW	13	4,293,031 (GRCm39)	missense	probably damaging	1.00
R6988:Akr1c19	UTSW	13	4,283,757 (GRCm39)	start gained	probably benign
R7286:Akr1c19	UTSW	13	4,296,818 (GRCm39)	missense	probably damaging	1.00
R7365:Akr1c19	UTSW	13	4,287,069 (GRCm39)	missense	probably benign	0.01
R7879:Akr1c19	UTSW	13	4,286,223 (GRCm39)	missense	probably damaging	1.00
R8177:Akr1c19	UTSW	13	4,292,591 (GRCm39)	missense	probably benign	0.01
R8868:Akr1c19	UTSW	13	4,293,070 (GRCm39)	missense	probably benign	0.00
R9248:Akr1c19	UTSW	13	4,292,974 (GRCm39)	missense	probably benign
R9447:Akr1c19	UTSW	13	4,296,838 (GRCm39)	missense	probably benign

Posted On

2016-08-02