Mutagenetix > Incidental Mutation

Incidental Mutation 'R0791:Akr1c13'

82417

Institutional Source

Beutler Lab

Gene Symbol

Akr1c13

Ensembl Gene

ENSMUSG00000021213

Gene Name

aldo-keto reductase family 1, member C13

Synonyms

MMRRC Submission

038971-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R0791 (G1)

Quality Score

146

Status

Not validated

Chromosome

Chromosomal Location

4241166-4255603 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4244111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 55 (Y55H)

Ref Sequence

ENSEMBL: ENSMUSP00000021634 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021634] [ENSMUST00000128892]

AlphaFold

Q8VC28

PDB Structure

Crystal structure of Putative reductase (NP_038806.2) from MUS MUSCULUS at 1.18 A resolution [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000021634
AA Change: Y55H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000021634
Gene: ENSMUSG00000021213
AA Change: Y55H

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	18	301	7.8e-63	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128892

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140971

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.3%
20x: 94.8%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	G	A	19: 8,994,098 (GRCm39)	M5127I	probably benign	Het
Armh3	A	T	19: 45,922,307 (GRCm39)		probably null	Het
Atp2b2	C	T	6: 113,750,349 (GRCm39)	R625H	probably damaging	Het
Bpifb2	T	C	2: 153,720,439 (GRCm39)	V66A	probably benign	Het
Ccdc33	T	C	9: 57,936,046 (GRCm39)	T950A	possibly damaging	Het
Ceacam19	A	T	7: 19,616,557 (GRCm39)		probably null	Het
Cenpn	T	A	8: 117,667,559 (GRCm39)		probably benign	Het
Ces1f	A	T	8: 93,998,517 (GRCm39)	Y160N	possibly damaging	Het
Clca3a1	A	C	3: 144,710,615 (GRCm39)	S863A	probably benign	Het
Cntrl	T	A	2: 35,045,291 (GRCm39)	I781K	possibly damaging	Het
Dock4	C	T	12: 40,754,480 (GRCm39)	R490W	probably damaging	Het
Evpl	T	A	11: 116,118,549 (GRCm39)	Q686L	probably damaging	Het
Fbxw10	A	G	11: 62,738,282 (GRCm39)	S59G	probably benign	Het
Glb1l2	A	G	9: 26,681,047 (GRCm39)	V218A	possibly damaging	Het
Gpatch1	A	T	7: 34,980,801 (GRCm39)		probably benign	Het
Grin2c	G	A	11: 115,141,472 (GRCm39)	P882L	probably damaging	Het
H2-Ob	C	A	17: 34,461,588 (GRCm39)	T109N	probably damaging	Het
Ipo8	A	G	6: 148,723,225 (GRCm39)	V64A	possibly damaging	Het
Jpt2	C	A	17: 25,167,647 (GRCm39)	A101S	probably benign	Het
Lamc1	C	A	1: 153,110,326 (GRCm39)	Q1116H	possibly damaging	Het
Lamc1	T	C	1: 153,110,358 (GRCm39)	S1106G	probably benign	Het
Lamc1	T	G	1: 153,110,341 (GRCm39)	Q1111H	probably damaging	Het
Large1	A	G	8: 73,775,107 (GRCm39)		probably benign	Het
Lig4	A	T	8: 10,023,012 (GRCm39)	V256E	possibly damaging	Het
Mpz	C	A	1: 170,986,343 (GRCm39)	Q86K	possibly damaging	Het
Mrps24	A	G	11: 5,654,684 (GRCm39)	V90A	possibly damaging	Het
Mtdh	A	G	15: 34,116,528 (GRCm39)		probably benign	Het
Mtor	T	C	4: 148,547,367 (GRCm39)	V450A	probably benign	Het
Mycbpap	A	G	11: 94,402,449 (GRCm39)		probably null	Het
Myo6	T	A	9: 80,169,656 (GRCm39)		probably benign	Het
Myom1	A	T	17: 71,428,131 (GRCm39)	I1450F	probably damaging	Het
Nbas	T	A	12: 13,532,634 (GRCm39)	S1781T	probably benign	Het
Nedd1	T	C	10: 92,555,476 (GRCm39)	E3G	probably damaging	Het
Nt5c3	T	C	6: 56,863,734 (GRCm39)	T149A	probably benign	Het
Or5p56	A	G	7: 107,589,740 (GRCm39)	H56R	probably benign	Het
Osbp2	G	A	11: 3,661,882 (GRCm39)		probably benign	Het
Paip1	T	C	13: 119,566,854 (GRCm39)	S54P	possibly damaging	Het
Pole2	G	A	12: 69,254,703 (GRCm39)	L381F	probably benign	Het
Prdm14	G	T	1: 13,195,968 (GRCm39)	A31E	probably benign	Het
Ptpn14	C	T	1: 189,568,637 (GRCm39)		probably benign	Het
Rims2	A	G	15: 39,543,021 (GRCm39)		probably benign	Het
Rnf20	A	G	4: 49,638,197 (GRCm39)	N103S	possibly damaging	Het
Sema3g	T	A	14: 30,942,861 (GRCm39)		probably benign	Het
Slc30a6	T	C	17: 74,722,640 (GRCm39)	S236P	possibly damaging	Het
Slc5a1	T	C	5: 33,315,421 (GRCm39)		probably benign	Het
Snx25	A	T	8: 46,577,119 (GRCm39)	M1K	probably null	Het
Synpo2	A	G	3: 122,906,835 (GRCm39)	V827A	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trak2	A	T	1: 58,942,820 (GRCm39)	M862K	probably benign	Het
Trim42	A	T	9: 97,247,732 (GRCm39)	H321Q	probably damaging	Het
Twnk	T	C	19: 44,998,693 (GRCm39)		probably benign	Het
Tymp	T	C	15: 89,259,021 (GRCm39)	K221R	probably damaging	Het
Uaca	C	A	9: 60,779,341 (GRCm39)	Q1243K	possibly damaging	Het
Vwa8	T	C	14: 79,232,016 (GRCm39)		probably benign	Het
Wnt4	C	T	4: 137,016,594 (GRCm39)	R83W	probably damaging	Het
Zfp820	T	C	17: 22,038,509 (GRCm39)	D273G	probably benign	Het
Zfp974	A	T	7: 27,609,510 (GRCm39)	Y738*	probably null	Het
Zkscan4	A	C	13: 21,668,081 (GRCm39)	E177D	probably benign	Het

Other mutations in Akr1c13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01387:Akr1c13	APN	13	4,247,794 (GRCm39)	splice site	probably null
IGL01553:Akr1c13	APN	13	4,244,774 (GRCm39)	missense	probably damaging	1.00
IGL01895:Akr1c13	APN	13	4,255,372 (GRCm39)	missense	possibly damaging	0.53
IGL02029:Akr1c13	APN	13	4,255,361 (GRCm39)	nonsense	probably null
IGL02316:Akr1c13	APN	13	4,253,458 (GRCm39)	unclassified	probably benign
IGL02949:Akr1c13	APN	13	4,248,593 (GRCm39)	missense	probably damaging	0.99
R0050:Akr1c13	UTSW	13	4,244,669 (GRCm39)	splice site	probably benign
R0184:Akr1c13	UTSW	13	4,244,055 (GRCm39)	missense	probably damaging	0.98
R0470:Akr1c13	UTSW	13	4,248,500 (GRCm39)	missense	probably damaging	1.00
R0722:Akr1c13	UTSW	13	4,247,931 (GRCm39)	splice site	probably null
R0792:Akr1c13	UTSW	13	4,244,111 (GRCm39)	missense	probably damaging	1.00
R2106:Akr1c13	UTSW	13	4,248,593 (GRCm39)	missense	probably damaging	0.99
R2509:Akr1c13	UTSW	13	4,248,583 (GRCm39)	missense	probably damaging	1.00
R4624:Akr1c13	UTSW	13	4,247,869 (GRCm39)	missense	probably damaging	1.00
R4626:Akr1c13	UTSW	13	4,247,869 (GRCm39)	missense	probably damaging	1.00
R4627:Akr1c13	UTSW	13	4,247,869 (GRCm39)	missense	probably damaging	1.00
R4628:Akr1c13	UTSW	13	4,247,869 (GRCm39)	missense	probably damaging	1.00
R4629:Akr1c13	UTSW	13	4,247,869 (GRCm39)	missense	probably damaging	1.00
R4764:Akr1c13	UTSW	13	4,248,496 (GRCm39)	missense	probably benign	0.05
R5112:Akr1c13	UTSW	13	4,244,151 (GRCm39)	missense	possibly damaging	0.70
R5149:Akr1c13	UTSW	13	4,244,168 (GRCm39)	missense	probably benign	0.10
R5203:Akr1c13	UTSW	13	4,247,896 (GRCm39)	nonsense	probably null
R5408:Akr1c13	UTSW	13	4,244,715 (GRCm39)	missense	probably benign	0.00
R5776:Akr1c13	UTSW	13	4,244,186 (GRCm39)	missense	probably damaging	1.00
R6469:Akr1c13	UTSW	13	4,246,511 (GRCm39)	critical splice donor site	probably null
R7466:Akr1c13	UTSW	13	4,242,436 (GRCm39)	critical splice donor site	probably benign
R9080:Akr1c13	UTSW	13	4,241,172 (GRCm39)	unclassified	probably benign
X0020:Akr1c13	UTSW	13	4,253,450 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GGGGTACTAGGCTCTTTCCTAACAACT -3'
(R):5'- GCACCAAAGCTACAGATGTTGAAGACT -3'

Sequencing Primer
(F):5'- CTGTTGTTAGGATGACTTTGAAAGAC -3'
(R):5'- TGAAGGAAGGTTATAAGAATCCCTC -3'

Posted On

2013-11-08