Mutagenetix > Incidental Mutation

Incidental Mutation 'R3704:Akr1b10'

258646

Institutional Source

Beutler Lab

Gene Symbol

Akr1b10

Ensembl Gene

ENSMUSG00000061758

Gene Name

aldo-keto reductase family 1, member B10

Synonyms

2310005E10Rik

MMRRC Submission

040697-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R3704 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34361182-34373884 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 34371689 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 285 (D285Y)

Ref Sequence

ENSEMBL: ENSMUSP00000039114 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038383] [ENSMUST00000115051] [ENSMUST00000139156]

AlphaFold

G5E895

Predicted Effect

probably damaging
Transcript: ENSMUST00000038383
AA Change: D285Y

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039114
Gene: ENSMUSG00000061758
AA Change: D285Y

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	15	294	2.1e-61	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115051
AA Change: D257Y

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110703
Gene: ENSMUSG00000061758
AA Change: D257Y

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	18	266	2e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139156

SMART Domains

Protein: ENSMUSP00000138639
Gene: ENSMUSG00000061758

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	15	128	2.3e-27	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144072

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182055

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.4%
20x: 91.8%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,838,803 (GRCm39)	T595A	possibly damaging	Het
Akap13	T	C	7: 75,316,298 (GRCm39)	C585R	probably damaging	Het
Ankrd17	A	T	5: 90,391,828 (GRCm39)	N1838K	possibly damaging	Het
Asap3	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGAGGAGGA	4: 135,968,552 (GRCm39)		probably benign	Het
Bcap29	T	C	12: 31,667,151 (GRCm39)	H170R	probably benign	Het
Brwd3	A	G	X: 107,804,021 (GRCm39)		probably benign	Het
Capn1	T	C	19: 6,057,401 (GRCm39)	E349G	probably damaging	Het
Cd27	C	T	6: 125,210,361 (GRCm39)	C222Y	probably damaging	Het
Cdh12	C	A	15: 21,583,912 (GRCm39)	T584K	probably damaging	Het
Col13a1	A	G	10: 61,703,608 (GRCm39)		probably null	Het
Col22a1	T	C	15: 71,842,156 (GRCm39)	T443A	probably damaging	Het
Crisp3	A	G	17: 40,546,848 (GRCm39)		probably benign	Het
Cubn	T	A	2: 13,355,754 (GRCm39)	H1826L	probably damaging	Het
Eci2	A	G	13: 35,177,216 (GRCm39)		probably benign	Het
Fat2	A	C	11: 55,200,476 (GRCm39)	F866C	probably damaging	Het
Fbxl7	C	A	15: 26,543,841 (GRCm39)	G269C	probably damaging	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Ifi35	G	A	11: 101,339,430 (GRCm39)	M1I	probably null	Het
Jarid2	A	G	13: 45,055,831 (GRCm39)	T308A	probably benign	Het
Kcnq3	A	G	15: 65,893,588 (GRCm39)		probably null	Het
Kcnt2	C	T	1: 140,461,706 (GRCm39)	T819M	probably damaging	Het
Kifc3	G	A	8: 95,830,656 (GRCm39)		probably benign	Het
Mill1	A	G	7: 17,996,978 (GRCm39)	T190A	possibly damaging	Het
Mosmo	A	G	7: 120,329,828 (GRCm39)	I150V	probably damaging	Het
Nemf	C	A	12: 69,377,904 (GRCm39)	D566Y	probably damaging	Het
Nisch	A	G	14: 30,898,702 (GRCm39)		probably benign	Het
Or8b101	T	A	9: 38,020,299 (GRCm39)	F106I	possibly damaging	Het
Paip2	A	G	18: 35,743,974 (GRCm39)	T9A	probably benign	Het
Pde5a	T	C	3: 122,572,668 (GRCm39)	S318P	probably benign	Het
Plcd1	T	C	9: 118,905,277 (GRCm39)	I145V	possibly damaging	Het
Prl2c2	C	T	13: 13,176,810 (GRCm39)	R37H	probably damaging	Het
Raet1e	A	G	10: 22,056,744 (GRCm39)	T107A	probably benign	Het
Reps1	T	G	10: 17,983,428 (GRCm39)	F424V	probably damaging	Het
Skint6	A	T	4: 112,993,669 (GRCm39)	V401D	possibly damaging	Het
Srgn	T	C	10: 62,333,609 (GRCm39)	D56G	probably damaging	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Ttn	A	T	2: 76,662,124 (GRCm39)		probably benign	Het
Ugt2b37	A	T	5: 87,390,846 (GRCm39)	F340L	possibly damaging	Het
Xirp1	T	A	9: 120,016,907 (GRCm38)	Q970L	probably benign	Het
Zfr2	T	G	10: 81,081,913 (GRCm39)	V493G	probably benign	Het
Zmat4	A	G	8: 24,287,430 (GRCm39)	R59G	probably benign	Het

Other mutations in Akr1b10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Akr1b10	APN	6	34,365,837 (GRCm39)	splice site	probably benign
IGL00840:Akr1b10	APN	6	34,371,041 (GRCm39)	missense	possibly damaging	0.61
IGL01906:Akr1b10	APN	6	34,364,746 (GRCm39)	missense	probably benign
R0552:Akr1b10	UTSW	6	34,369,920 (GRCm39)	missense	possibly damaging	0.52
R0732:Akr1b10	UTSW	6	34,367,044 (GRCm39)	missense	probably benign
R1371:Akr1b10	UTSW	6	34,369,394 (GRCm39)	missense	probably benign	0.28
R1895:Akr1b10	UTSW	6	34,365,805 (GRCm39)	missense	probably damaging	1.00
R3704:Akr1b10	UTSW	6	34,371,690 (GRCm39)	missense	probably benign	0.00
R3975:Akr1b10	UTSW	6	34,369,431 (GRCm39)	critical splice donor site	probably null
R4020:Akr1b10	UTSW	6	34,369,388 (GRCm39)	missense	probably benign	0.42
R4573:Akr1b10	UTSW	6	34,369,064 (GRCm39)	missense	probably damaging	1.00
R5062:Akr1b10	UTSW	6	34,369,041 (GRCm39)	missense	probably damaging	1.00
R5540:Akr1b10	UTSW	6	34,371,047 (GRCm39)	missense	probably damaging	1.00
R6012:Akr1b10	UTSW	6	34,364,715 (GRCm39)	missense	probably damaging	1.00
R6021:Akr1b10	UTSW	6	34,369,309 (GRCm39)	splice site	probably null
R6256:Akr1b10	UTSW	6	34,364,623 (GRCm39)	missense	probably damaging	1.00
R7963:Akr1b10	UTSW	6	34,364,643 (GRCm39)	missense	possibly damaging	0.93
R8696:Akr1b10	UTSW	6	34,369,067 (GRCm39)	missense	possibly damaging	0.49
R9049:Akr1b10	UTSW	6	34,373,561 (GRCm39)	missense	possibly damaging	0.89
R9417:Akr1b10	UTSW	6	34,371,027 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGTCATTGCACACACTTGC -3'
(R):5'- CTCTTAGTGATTCCCCAGGAC -3'

Sequencing Primer
(F):5'- GCATATCTACAAACCCTGCTTGTG -3'
(R):5'- TCTTAGTGATTCCCCAGGACTCAAAC -3'

Posted On

2015-01-23