Mutagenetix > Incidental Mutation

Incidental Mutation 'R3893:Akr1c19'

310052

Institutional Source

Beutler Lab

Gene Symbol

Akr1c19

Ensembl Gene

ENSMUSG00000071551

Gene Name

aldo-keto reductase family 1, member C19

Synonyms

1810010N06Rik

MMRRC Submission

040805-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4283499-4298360 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4288441 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 140 (D140N)

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: D140N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000080074
Gene: ENSMUSG00000071551
AA Change: D140N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000118663
AA Change: D140N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000112666
Gene: ENSMUSG00000071551
AA Change: D140N

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

Meta Mutation Damage Score

0.1730

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610303G11Rik	A	T	9: 98,068,864 (GRCm39)		noncoding transcript	Het
Adam19	C	T	11: 46,019,665 (GRCm39)	A455V	probably damaging	Het
Atoh1	A	G	6: 64,707,117 (GRCm39)	T271A	probably damaging	Het
Atp6v0a2	G	A	5: 124,777,203 (GRCm39)	R168Q	probably damaging	Het
B930094E09Rik	G	A	18: 31,742,742 (GRCm39)	S59N	unknown	Het
Cadps	A	G	14: 12,488,883 (GRCm38)		probably benign	Het
Cfap69	A	T	5: 5,631,245 (GRCm39)	V61E	probably damaging	Het
Chd5	A	G	4: 152,445,113 (GRCm39)	R365G	probably damaging	Het
Cracdl	T	A	1: 37,670,539 (GRCm39)	M134L	probably benign	Het
Cyria	T	C	12: 12,412,526 (GRCm39)	V232A	probably benign	Het
Dnajc18	A	T	18: 35,834,048 (GRCm39)		probably null	Het
Fmnl1	T	A	11: 103,087,583 (GRCm39)		probably benign	Het
Gca	A	G	2: 62,509,564 (GRCm39)	Y89C	probably damaging	Het
Gcnt2	A	G	13: 41,013,922 (GRCm39)	Y31C	probably benign	Het
Gem	C	T	4: 11,705,889 (GRCm39)		probably benign	Het
Ggps1	T	C	13: 14,228,284 (GRCm39)	K300E	probably benign	Het
Gpc5	T	C	14: 115,607,472 (GRCm39)	M358T	probably benign	Het
Gprin3	T	C	6: 59,331,464 (GRCm39)	Y281C	probably benign	Het
H2-M11	A	G	17: 36,857,982 (GRCm39)	T6A	probably benign	Het
Lrp5	G	A	19: 3,662,330 (GRCm39)	R173C	probably damaging	Het
Lrrk1	T	C	7: 65,928,268 (GRCm39)		probably benign	Het
Macf1	A	G	4: 123,380,199 (GRCm39)	Y1298H	probably damaging	Het
Micu3	C	T	8: 40,819,265 (GRCm39)	L315F	probably damaging	Het
Pkd1	G	A	17: 24,791,084 (GRCm39)		probably null	Het
Pkhd1	A	T	1: 20,382,362 (GRCm39)	Y2596*	probably null	Het
Pnliprp2	A	G	19: 58,754,705 (GRCm39)	S250G	probably benign	Het
Prkcq	A	C	2: 11,231,782 (GRCm39)	E35A	probably damaging	Het
Prpf8	C	A	11: 75,391,083 (GRCm39)	S1377R	possibly damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rsbn1l	C	T	5: 21,110,838 (GRCm39)	R500H	probably damaging	Het
Sart3	C	T	5: 113,884,697 (GRCm39)	E636K	probably benign	Het
Skint3	A	G	4: 112,111,115 (GRCm39)	K80R	probably damaging	Het
Slc11a1	G	A	1: 74,423,865 (GRCm39)	A398T	probably damaging	Het
Sspo	G	T	6: 48,453,505 (GRCm39)	E2887*	probably null	Het
Tmc5	A	C	7: 118,244,592 (GRCm39)	Y490S	probably damaging	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tnfsf8	G	T	4: 63,779,196 (GRCm39)	T34K	possibly damaging	Het
Trim5	T	A	7: 103,926,042 (GRCm39)	N173I	probably damaging	Het
Vkorc1l1	A	T	5: 130,011,112 (GRCm39)	I109L	probably benign	Het
Vmn1r214	A	G	13: 23,218,811 (GRCm39)	T102A	probably benign	Het
Wdr19	A	G	5: 65,385,635 (GRCm39)	D579G	possibly damaging	Het
Zc3h6	A	G	2: 128,858,060 (GRCm39)	Y697C	probably damaging	Het
Zfp955b	T	C	17: 33,521,968 (GRCm39)	I479T	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- GAGACTAGTTCAAGCACCCAAG -3'
(R):5'- CAGCAGAATCCAGTCATTCCTG -3'

Sequencing Primer
(F):5'- TAGTTCAAGCACCCAAGAATACTG -3'
(R):5'- GCAGAATCCAGTCATTCCTGTTGTC -3'

Posted On

2015-04-17