Mutagenetix > Incidental Mutation

Incidental Mutation 'R6256:Akr1b10'

506109

Institutional Source

Beutler Lab

Gene Symbol

Akr1b10

Ensembl Gene

ENSMUSG00000061758

Gene Name

aldo-keto reductase family 1, member B10

Synonyms

2310005E10Rik

MMRRC Submission

044373-MU

Accession Numbers

Essential gene?

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

Stock #

R6256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34361182-34373884 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34364623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 28 (V28A)

Ref Sequence

ENSEMBL: ENSMUSP00000138639 (fasta)

Gene Model

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

AlphaFold

G5E895

Predicted Effect

probably damaging
Transcript: ENSMUST00000038383
AA Change: V28A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039114
Gene: ENSMUSG00000061758
AA Change: V28A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115051

SMART Domains

Protein: ENSMUSP00000110703
Gene: ENSMUSG00000061758

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000139156
AA Change: V28A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138639
Gene: ENSMUSG00000061758
AA Change: V28A

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

0.1782

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 73,205,272 (GRCm39)	Q361L	probably damaging	Het
Abca7	A	G	10: 79,838,456 (GRCm39)	T577A	probably damaging	Het
Acad12	A	T	5: 121,752,149 (GRCm39)	V54E	probably benign	Het
Ago4	A	G	4: 126,414,019 (GRCm39)	Y91H	probably damaging	Het
Ccdc33	T	A	9: 58,009,201 (GRCm39)		probably null	Het
Ccdc7a	T	C	8: 129,662,074 (GRCm39)		probably null	Het
Ces1f	A	T	8: 93,992,422 (GRCm39)	V343E	probably damaging	Het
Cftr	T	C	6: 18,274,660 (GRCm39)	L896P	probably damaging	Het
Csmd3	G	A	15: 47,533,125 (GRCm39)	P2375S	probably damaging	Het
Dnajb14	C	T	3: 137,614,124 (GRCm39)	A345V	probably damaging	Het
Dnajb14	G	C	3: 137,614,123 (GRCm39)	A345P	probably damaging	Het
Dnase1	G	A	16: 3,855,485 (GRCm39)	R24K	probably benign	Het
Dnmbp	C	T	19: 43,840,720 (GRCm39)	V560M	probably damaging	Het
Dop1b	T	A	16: 93,604,102 (GRCm39)	I1981N	possibly damaging	Het
Eif3a	A	C	19: 60,759,464 (GRCm39)	S770A	possibly damaging	Het
Fbxl7	A	T	15: 26,553,088 (GRCm39)	C60S	probably benign	Het
Fras1	A	T	5: 96,881,702 (GRCm39)	D2478V	possibly damaging	Het
Hrnr	A	G	3: 93,229,918 (GRCm39)	D52G	probably damaging	Het
Jmjd1c	T	A	10: 67,056,187 (GRCm39)	L823M	probably damaging	Het
Kdm1a	G	T	4: 136,295,911 (GRCm39)	C172*	probably null	Het
Kdm6b	C	T	11: 69,297,555 (GRCm39)	E295K	probably damaging	Het
Mepe	A	T	5: 104,484,940 (GRCm39)	M27L	probably benign	Het
Mogat2	A	T	7: 98,869,102 (GRCm39)	H305Q	probably damaging	Het
Mst1r	T	A	9: 107,794,465 (GRCm39)	Y1215N	probably damaging	Het
Muc5ac	A	T	7: 141,343,532 (GRCm39)	H48L	possibly damaging	Het
Myo7b	T	C	18: 32,116,748 (GRCm39)	D953G	probably damaging	Het
Ocel1	T	C	8: 71,824,472 (GRCm39)		probably benign	Het
Pcdhb6	A	G	18: 37,468,978 (GRCm39)	D633G	probably damaging	Het
Ppm1l	A	G	3: 69,405,230 (GRCm39)	I176V	probably benign	Het
Sall3	C	T	18: 81,013,076 (GRCm39)	R1120H	possibly damaging	Het
Sbf1	G	A	15: 89,185,070 (GRCm39)	P1018S	probably benign	Het
Setbp1	T	C	18: 78,900,472 (GRCm39)	Y1065C	probably damaging	Het
Slc25a2	T	C	18: 37,770,776 (GRCm39)		probably null	Het
Slc4a2	C	A	5: 24,640,888 (GRCm39)	T729K	probably damaging	Het
Sptlc2	T	C	12: 87,402,305 (GRCm39)	E207G	probably damaging	Het
Sult6b1	A	T	17: 79,214,343 (GRCm39)	F27I	probably benign	Het
Syf2	A	T	4: 134,661,889 (GRCm39)	K84N	probably damaging	Het
Tmem209	A	T	6: 30,497,166 (GRCm39)	N183K	probably benign	Het
Tmem232	G	T	17: 65,785,397 (GRCm39)	Q188K	possibly damaging	Het
Tomm70a	A	T	16: 56,973,055 (GRCm39)	T598S	probably benign	Het
Ttll13	A	G	7: 79,908,052 (GRCm39)	T556A	probably benign	Het
Vmn2r120	A	T	17: 57,831,700 (GRCm39)	L363*	probably null	Het
Xpo6	G	T	7: 125,707,791 (GRCm39)	Q872K	probably damaging	Het
Xrra1	A	C	7: 99,563,671 (GRCm39)	S553R	probably damaging	Het
Zfy1	A	T	Y: 738,765 (GRCm39)	V147E	unknown	Homo
Zfy2	T	C	Y: 2,116,267 (GRCm39)	I258V	probably benign	Homo

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
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
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'- TCATACAAGTGTTGAAGCGCCC -3'
(R):5'- AAGTGGACCATCGTACCTTGC -3'

Sequencing Primer
(F):5'- GACTTGAACTCAGGCCCTAGATTTG -3'
(R):5'- CATCGTACCTTGCTGACGATGAAG -3'

Posted On

2018-02-28