Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01625:Akr1c19'

92723

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 #

IGL01625

Quality Score

Status

Chromosome

Chromosomal Location

4283499-4298360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4283816 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 16 (I16N)

Ref Sequence

ENSEMBL: ENSMUSP00000112666 (fasta)

Gene Model

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

AlphaFold

G3X9Y6

Predicted Effect

probably damaging
Transcript: ENSMUST00000081326
AA Change: I16N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080074
Gene: ENSMUSG00000071551
AA Change: I16N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000118663
AA Change: I16N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112666
Gene: ENSMUSG00000071551
AA Change: I16N

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 144,979,957 (GRCm39)	H37Q	possibly damaging	Het
Arpc1b	T	C	5: 145,058,555 (GRCm39)		probably null	Het
Bzw1	A	G	1: 58,440,599 (GRCm39)	T191A	probably benign	Het
Cacna1h	G	A	17: 25,604,686 (GRCm39)	T1209I	possibly damaging	Het
Cacna1h	T	C	17: 25,602,459 (GRCm39)	D1523G	probably damaging	Het
Cdc20b	T	C	13: 113,196,319 (GRCm39)	L148P	possibly damaging	Het
Cubn	A	G	2: 13,311,085 (GRCm39)	F3147L	possibly damaging	Het
Dagla	A	G	19: 10,228,566 (GRCm39)		probably benign	Het
Dnah9	T	C	11: 65,935,471 (GRCm39)	N1983D	probably damaging	Het
Fbxw10	G	A	11: 62,750,853 (GRCm39)	D479N	probably damaging	Het
Fer	A	T	17: 64,344,621 (GRCm39)	Q630L	probably damaging	Het
Gbp5	A	G	3: 142,208,789 (GRCm39)	N111D	probably damaging	Het
Gm8127	T	G	14: 43,148,520 (GRCm39)		probably benign	Het
Heatr1	T	A	13: 12,428,409 (GRCm39)	N814K	probably damaging	Het
Iba57	G	A	11: 59,049,775 (GRCm39)	R191W	probably damaging	Het
Itgae	C	A	11: 73,010,263 (GRCm39)	F584L	probably benign	Het
Kdm5b	A	G	1: 134,545,706 (GRCm39)	K956E	possibly damaging	Het
Muc4	C	T	16: 32,575,918 (GRCm39)		probably benign	Het
Mybpc2	T	C	7: 44,166,337 (GRCm39)	K218E	possibly damaging	Het
Pcdh10	T	C	3: 45,333,832 (GRCm39)	S49P	probably damaging	Het
Prss3b	A	C	6: 41,009,882 (GRCm39)	S151A	probably benign	Het
Rai14	T	C	15: 10,572,460 (GRCm39)	D889G	probably benign	Het
Rbpjl	A	G	2: 164,249,705 (GRCm39)	K102R	possibly damaging	Het
Retreg2	A	G	1: 75,121,359 (GRCm39)		probably benign	Het
Rfc4	A	T	16: 22,934,573 (GRCm39)	L149Q	probably damaging	Het
Rft1	T	A	14: 30,398,853 (GRCm39)	D274E	possibly damaging	Het
Rlf	A	T	4: 121,045,457 (GRCm39)	S143R	possibly damaging	Het
Rptn	T	A	3: 93,305,201 (GRCm39)	S845T	probably benign	Het
Slamf8	C	A	1: 172,410,049 (GRCm39)	D267Y	probably damaging	Het
Smoc2	C	T	17: 14,545,876 (GRCm39)	S55L	probably damaging	Het
Sptan1	C	T	2: 29,916,126 (GRCm39)	A2038V	probably damaging	Het
Stx17	C	A	4: 48,181,526 (GRCm39)	P210T	probably damaging	Het
Tbc1d5	A	G	17: 51,224,601 (GRCm39)	Y317H	probably benign	Het
Tenm4	C	A	7: 96,534,565 (GRCm39)	T1737N	probably damaging	Het
Tesk2	T	C	4: 116,628,998 (GRCm39)	F116L	possibly damaging	Het
Tln2	T	C	9: 67,277,905 (GRCm39)	S370G	probably damaging	Het
Tm6sf2	G	T	8: 70,528,733 (GRCm39)	G162C	probably null	Het
Togaram2	A	C	17: 72,021,693 (GRCm39)	E718D	probably benign	Het
Ttn	A	C	2: 76,578,327 (GRCm39)	F15862V	probably damaging	Het
Uba6	T	A	5: 86,268,388 (GRCm39)	R916*	probably null	Het
Umodl1	A	G	17: 31,215,229 (GRCm39)	M1018V	probably benign	Het
Wdr26	G	A	1: 181,019,381 (GRCm39)	T332I	possibly damaging	Het
Xdh	A	T	17: 74,223,781 (GRCm39)		probably null	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
IGL02863:Akr1c19	APN	13	4,287,112 (GRCm39)	nonsense	probably null
IGL03094:Akr1c19	APN	13	4,286,184 (GRCm39)	missense	probably benign	0.22
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

2013-12-09