Mutagenetix > Incidental Mutation

Incidental Mutation 'R1371:Akr1b10'

157309

Institutional Source

Beutler Lab

Gene Symbol

Akr1b10

Ensembl Gene

ENSMUSG00000061758

Gene Name

aldo-keto reductase family 1, member B10

Synonyms

2310005E10Rik

MMRRC Submission

039435-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R1371 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34361182-34373884 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34369394 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 208 (T208I)

Ref Sequence

ENSEMBL: ENSMUSP00000039114 (fasta)

Gene Model

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

AlphaFold

G5E895

Predicted Effect

probably benign
Transcript: ENSMUST00000038383
AA Change: T208I

PolyPhen 2 Score 0.276 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000039114
Gene: ENSMUSG00000061758
AA Change: T208I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115051
AA Change: T180I

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000110703
Gene: ENSMUSG00000061758
AA Change: T180I

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: ENSMUST00000144384

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182055

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.7%
20x: 89.0%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,844,379 (GRCm39)	D884V	probably damaging	Het
Acvr2a	C	T	2: 48,789,628 (GRCm39)	T457M	probably damaging	Het
Aldh16a1	G	T	7: 44,796,674 (GRCm39)	T275K	possibly damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Asgr1	T	G	11: 69,946,923 (GRCm39)	C56W	probably benign	Het
Atp11b	T	C	3: 35,860,918 (GRCm39)	I335T	probably damaging	Het
BC061237	A	G	14: 44,741,762 (GRCm39)		probably benign	Het
Bdh1	G	T	16: 31,275,720 (GRCm39)	K280N	probably benign	Het
Bmp1	C	T	14: 70,729,906 (GRCm39)	C466Y	probably damaging	Het
Ccdc181	A	G	1: 164,108,172 (GRCm39)	E285G	probably benign	Het
Ces1f	C	T	8: 94,006,277 (GRCm39)	G18R	probably damaging	Het
Cfap43	T	A	19: 47,824,045 (GRCm39)	I109L	possibly damaging	Het
Cma2	T	C	14: 56,210,283 (GRCm39)	L56S	probably damaging	Het
Edc4	A	G	8: 106,617,382 (GRCm39)		probably benign	Het
F3	T	C	3: 121,526,159 (GRCm39)	C241R	probably damaging	Het
Fhdc1	T	A	3: 84,352,310 (GRCm39)	S972C	probably damaging	Het
Heatr1	T	G	13: 12,432,513 (GRCm39)	I1086R	possibly damaging	Het
Hsh2d	A	T	8: 72,950,738 (GRCm39)		probably benign	Het
Ice1	T	C	13: 70,744,340 (GRCm39)	Y2081C	probably damaging	Het
Il1rl1	A	G	1: 40,481,873 (GRCm39)	N194D	probably damaging	Het
Ip6k1	G	A	9: 107,923,022 (GRCm39)	V385M	probably damaging	Het
Lig1	G	A	7: 13,022,611 (GRCm39)	R147Q	probably damaging	Het
Lrp1b	C	T	2: 40,537,165 (GRCm39)	V41I	probably damaging	Het
Macroh2a2	A	T	10: 61,585,112 (GRCm39)	D177E	possibly damaging	Het
Mst1r	T	A	9: 107,794,424 (GRCm39)	V1201E	probably damaging	Het
Myof	T	C	19: 37,892,116 (GRCm39)		probably benign	Het
Nbas	G	T	12: 13,532,379 (GRCm39)		probably benign	Het
Ndst1	A	G	18: 60,840,719 (GRCm39)	I321T	possibly damaging	Het
Nek10	G	A	14: 14,850,983 (GRCm38)	G343R	probably damaging	Het
Or2a7	A	T	6: 43,151,234 (GRCm39)	T105S	probably benign	Het
Or2y1	T	A	11: 49,385,650 (GRCm39)	C97S	probably damaging	Het
Or4d2b	A	T	11: 87,780,122 (GRCm39)	I200N	probably damaging	Het
Pde4d	T	C	13: 109,253,595 (GRCm39)	S141P	probably benign	Het
Pigm	A	T	1: 172,204,381 (GRCm39)	Q39L	probably damaging	Het
Prl7a2	T	A	13: 27,846,750 (GRCm39)	I88F	probably benign	Het
Prss16	T	A	13: 22,192,856 (GRCm39)		probably benign	Het
Psmc4	G	A	7: 27,742,222 (GRCm39)		probably benign	Het
Ptger3	T	A	3: 157,273,365 (GRCm39)	C237*	probably null	Het
Recql	G	A	6: 142,318,601 (GRCm39)	T214M	probably damaging	Het
Rfx7	T	A	9: 72,526,857 (GRCm39)	V1349D	probably damaging	Het
Ros1	A	G	10: 51,964,041 (GRCm39)	S1740P	probably damaging	Het
Rrm2b	A	T	15: 37,947,053 (GRCm39)	S83T	probably benign	Het
Sall4	A	G	2: 168,598,394 (GRCm39)	Y149H	probably benign	Het
Smad1	A	G	8: 80,076,207 (GRCm39)		probably benign	Het
Snrnp70	T	C	7: 45,030,129 (GRCm39)		probably benign	Het
Spef2	C	A	15: 9,725,194 (GRCm39)		probably benign	Het
Sptlc1	T	C	13: 53,505,660 (GRCm39)	T253A	probably benign	Het
Zbbx	T	C	3: 74,959,784 (GRCm39)	Y595C	possibly damaging	Het
Zfp382	T	C	7: 29,833,114 (GRCm39)	V255A	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
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
R3704:Akr1b10	UTSW	6	34,371,689 (GRCm39)	missense	probably damaging	0.98
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'- TCTTGTGTGGAAAGGTCCTCTGAGC -3'
(R):5'- AGAGTCTGGAAAGTGTGACCCAGC -3'

Sequencing Primer
(F):5'- GAAAGGTCCTCTGAGCCACTC -3'
(R):5'- TGAGTATTATCCACGACCACTG -3'

Posted On

2014-02-18