Mutagenetix > Incidental Mutation

Incidental Mutation 'R6012:Akr1b10'

479803

Institutional Source

Beutler Lab

Gene Symbol

Akr1b10

Ensembl Gene

ENSMUSG00000061758

Gene Name

aldo-keto reductase family 1, member B10

Synonyms

2310005E10Rik

MMRRC Submission

044188-MU

Accession Numbers

Essential gene?

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

Stock #

R6012 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34361182-34373884 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34364715 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 59 (I59F)

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: I59F

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

SMART Domains

Protein: ENSMUSP00000039114
Gene: ENSMUSG00000061758
AA Change: I59F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000115051
AA Change: I31F

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

SMART Domains

Protein: ENSMUSP00000110703
Gene: ENSMUSG00000061758
AA Change: I31F

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000139156
AA Change: I59F

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

SMART Domains

Protein: ENSMUSP00000138639
Gene: ENSMUSG00000061758
AA Change: I59F

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

0.3681

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.4%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	T	A	16: 8,400,691 (GRCm39)	Y97N	probably damaging	Het
Adrm1b	C	A	3: 92,336,791 (GRCm39)		probably null	Het
Als2	A	T	1: 59,224,374 (GRCm39)	D1076E	probably damaging	Het
Bank1	T	C	3: 135,919,598 (GRCm39)	D266G	probably benign	Het
Bmp2k	T	A	5: 97,211,467 (GRCm39)		probably null	Het
Cdc42bpa	A	G	1: 179,892,655 (GRCm39)	Y273C	probably damaging	Het
Chfr	G	T	5: 110,292,517 (GRCm39)		probably null	Het
Dapk1	A	T	13: 60,909,476 (GRCm39)	Q1363L	probably benign	Het
Ddx23	A	T	15: 98,548,651 (GRCm39)	D352E	possibly damaging	Het
Ect2	T	C	3: 27,152,474 (GRCm39)		probably benign	Het
Efcab10	A	C	12: 33,448,592 (GRCm39)	D107A	probably damaging	Het
Fcgr4	G	A	1: 170,853,233 (GRCm39)	G146D	possibly damaging	Het
Fgd5	A	G	6: 91,966,322 (GRCm39)	T694A	possibly damaging	Het
Ghr	T	C	15: 3,370,409 (GRCm39)	D152G	probably damaging	Het
Gli2	A	C	1: 118,765,445 (GRCm39)	L902R	probably damaging	Het
Glis2	G	A	16: 4,429,172 (GRCm39)	G125D	possibly damaging	Het
Gmcl1	A	G	6: 86,698,394 (GRCm39)	Y168H	probably damaging	Het
Golga4	A	G	9: 118,388,764 (GRCm39)	K1962R	possibly damaging	Het
Hebp1	T	A	6: 135,145,055 (GRCm39)	E14V	probably damaging	Het
Hhla1	A	C	15: 65,820,339 (GRCm39)	I137S	probably damaging	Het
Hivep1	A	G	13: 42,337,934 (GRCm39)	H2671R	possibly damaging	Het
Hltf	A	G	3: 20,113,098 (GRCm39)	Y19C	probably damaging	Het
Hsd3b2	A	T	3: 98,619,333 (GRCm39)	M204K	probably benign	Het
Hspa4l	A	T	3: 40,736,031 (GRCm39)	I551F	probably benign	Het
Itpkc	A	T	7: 26,927,490 (GRCm39)	D141E	probably damaging	Het
Kcnc3	A	G	7: 44,248,296 (GRCm39)	D757G	probably benign	Het
Mettl16	A	T	11: 74,678,474 (GRCm39)	Y141F	probably damaging	Het
Mfng	G	A	15: 78,640,840 (GRCm39)	R302C	probably damaging	Het
Mogs	T	A	6: 83,094,363 (GRCm39)	S393R	probably damaging	Het
Mrps28	A	G	3: 8,965,044 (GRCm39)		probably null	Het
Nfat5	T	C	8: 108,093,765 (GRCm39)	S150P	probably benign	Het
Or2w1	T	C	13: 21,316,978 (GRCm39)	V11A	probably benign	Het
Or7d10	A	T	9: 19,832,237 (GRCm39)	H244L	probably damaging	Het
Pcdh12	A	G	18: 38,416,805 (GRCm39)	S107P	probably damaging	Het
Phf21a	G	A	2: 92,182,120 (GRCm39)	D463N	probably damaging	Het
Picalm	A	C	7: 89,844,908 (GRCm39)	I567L	probably benign	Het
Pla2g4a	T	A	1: 149,808,428 (GRCm39)	D5V	possibly damaging	Het
Sspo	C	T	6: 48,428,305 (GRCm39)	T222M	probably benign	Het
Stard9	T	C	2: 120,535,067 (GRCm39)	S3775P	probably damaging	Het
Stk31	A	T	6: 49,446,243 (GRCm39)	D982V	probably damaging	Het
Tas2r113	C	T	6: 132,870,644 (GRCm39)	T224I	probably damaging	Het
Tbc1d15	T	C	10: 115,055,112 (GRCm39)	D310G	probably damaging	Het
Tcf12	G	T	9: 71,766,229 (GRCm39)	T468K	possibly damaging	Het
Tenm4	A	G	7: 96,171,640 (GRCm39)		probably benign	Het
Tet2	A	G	3: 133,172,542 (GRCm39)	Y1907H	possibly damaging	Het
Thsd7a	T	C	6: 12,379,388 (GRCm39)		probably null	Het
Tln1	T	A	4: 43,539,508 (GRCm39)	T1605S	probably benign	Het
Trp53bp1	T	C	2: 121,087,083 (GRCm39)	Y191C	probably benign	Het
Ugcg	T	A	4: 59,220,272 (GRCm39)	I355N	probably damaging	Het
Vmn1r21	A	T	6: 57,820,891 (GRCm39)	D184E	probably damaging	Het
Vsig10l	T	A	7: 43,117,439 (GRCm39)	D575E	probably damaging	Het
Zan	G	A	5: 137,462,791 (GRCm39)	T796I	unknown	Het
Zfp639	A	G	3: 32,573,271 (GRCm39)	D61G	probably damaging	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
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
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'- ATAGATCCCAGATCCACGTGG -3'
(R):5'- AACTTGGTGTGGATATTCATGC -3'

Sequencing Primer
(F):5'- GACGCTGCTGGAGTAGGACTTAG -3'
(R):5'- TTCATGCAGAGATATAATGACGGAG -3'

Posted On

2017-06-26