Mutagenetix > Incidental Mutation

Incidental Mutation 'R0518:Akr1c14'

48333

Institutional Source

Beutler Lab

Gene Symbol

Akr1c14

Ensembl Gene

ENSMUSG00000033715

Gene Name

aldo-keto reductase family 1, member C14

Synonyms

9030611N15Rik

MMRRC Submission

038711-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0518 (G1)

Quality Score

143

Status

Not validated

Chromosome

Chromosomal Location

4099015-4140569 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4131016 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 236 (L236S)

Ref Sequence

ENSEMBL: ENSMUSP00000112664 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041768] [ENSMUST00000118717] [ENSMUST00000147180]

AlphaFold

Q91WT7

Predicted Effect

probably damaging
Transcript: ENSMUST00000041768
AA Change: L236S

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

SMART Domains

Protein: ENSMUSP00000045394
Gene: ENSMUSG00000033715
AA Change: L236S

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	18	301	2.4e-53	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000118717
AA Change: L236S

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

SMART Domains

Protein: ENSMUSP00000112664
Gene: ENSMUSG00000033715
AA Change: L236S

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	18	301	8.1e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147180

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,181,112 (GRCm39)		probably null	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Acsm5	T	C	7: 119,135,023 (GRCm39)	V327A	possibly damaging	Het
Agt	C	A	8: 125,283,839 (GRCm39)	E427*	probably null	Het
Ammecr1l	C	T	18: 31,904,954 (GRCm39)	S65L	probably benign	Het
Ankrd33b	T	C	15: 31,367,432 (GRCm39)	D36G	probably damaging	Het
Ano8	A	T	8: 71,931,902 (GRCm39)	C766S	probably benign	Het
Arhgef16	G	T	4: 154,375,491 (GRCm39)	P168T	probably damaging	Het
Asic1	C	T	15: 99,596,700 (GRCm39)	R499C	probably damaging	Het
Atpsckmt	T	G	15: 31,606,103 (GRCm39)	S20R	probably benign	Het
Bank1	C	T	3: 135,919,703 (GRCm39)	C364Y	probably damaging	Het
Bmerb1	T	A	16: 13,804,676 (GRCm39)	S8T	possibly damaging	Het
Cacna1s	C	A	1: 136,004,597 (GRCm39)	D132E	probably benign	Het
Capn5	C	T	7: 97,782,089 (GRCm39)	R217Q	probably damaging	Het
Clasrp	A	G	7: 19,322,528 (GRCm39)	I284T	probably benign	Het
Coa3	T	A	11: 101,169,716 (GRCm39)	K13M	probably damaging	Het
Col13a1	A	T	10: 61,698,525 (GRCm39)	M512K	unknown	Het
Colgalt2	G	T	1: 152,384,312 (GRCm39)	A551S	possibly damaging	Het
Crhbp	C	A	13: 95,580,403 (GRCm39)		probably null	Het
Cryba2	T	C	1: 74,929,284 (GRCm39)	Y153C	possibly damaging	Het
Cryzl2	T	C	1: 157,292,000 (GRCm39)	V93A	probably damaging	Het
Ctsl	G	A	13: 64,513,032 (GRCm39)	L297F	possibly damaging	Het
Cyp2r1	T	G	7: 114,152,135 (GRCm39)	H274P	probably benign	Het
Ddx4	A	T	13: 112,761,313 (GRCm39)		probably null	Het
Dnai4	A	C	4: 102,921,727 (GRCm39)	Y464*	probably null	Het
Dnd1	A	G	18: 36,897,096 (GRCm39)	V350A	possibly damaging	Het
Dsg1b	A	T	18: 20,521,221 (GRCm39)	Q26L	probably benign	Het
Fam20b	C	A	1: 156,515,026 (GRCm39)	V280F	possibly damaging	Het
Foxb2	G	T	19: 16,849,820 (GRCm39)	C395*	probably null	Het
Glb1	ACCC	ACC	9: 114,250,812 (GRCm39)		probably null	Het
Gm9930	A	T	10: 9,410,547 (GRCm39)		noncoding transcript	Het
Hdac7	G	A	15: 97,704,380 (GRCm39)	Q497*	probably null	Het
Hk3	C	T	13: 55,162,239 (GRCm39)		probably null	Het
Hsd3b7	A	G	7: 127,402,251 (GRCm39)	T330A	probably benign	Het
Il20ra	A	T	10: 19,635,388 (GRCm39)	Q543L	probably damaging	Het
Itk	T	A	11: 46,251,115 (GRCm39)	D163V	probably damaging	Het
Kcnu1	T	G	8: 26,400,916 (GRCm39)	L688R	probably damaging	Het
Kng1	G	A	16: 22,879,232 (GRCm39)	A45T	possibly damaging	Het
Kti12	T	A	4: 108,705,776 (GRCm39)	V230E	possibly damaging	Het
Lhfpl7	T	A	5: 113,383,873 (GRCm39)	L97*	probably null	Het
Mgat5	T	A	1: 127,312,584 (GRCm39)	I241N	probably damaging	Het
Mkln1	A	G	6: 31,445,067 (GRCm39)	N321S	probably benign	Het
Mllt10	T	G	2: 18,076,017 (GRCm39)		probably null	Het
Ms4a1	C	A	19: 11,236,043 (GRCm39)		probably null	Het
Ngly1	C	T	14: 16,290,774 (GRCm38)	Q419*	probably null	Het
Nipsnap3b	T	A	4: 53,021,343 (GRCm39)	F243I	probably damaging	Het
Ogfod1	T	A	8: 94,781,876 (GRCm39)		probably null	Het
Or10a2	T	A	7: 106,673,965 (GRCm39)	L310Q	possibly damaging	Het
Or2y11	C	T	11: 49,443,291 (GRCm39)	T239M	probably damaging	Het
Or51v8	T	A	7: 103,319,696 (GRCm39)	I181F	possibly damaging	Het
Or8c20	A	C	9: 38,260,499 (GRCm39)	N40T	probably damaging	Het
P2ry14	T	A	3: 59,022,625 (GRCm39)	E287D	probably damaging	Het
Pank4	A	T	4: 155,061,082 (GRCm39)	R510S	possibly damaging	Het
Pcsk6	T	A	7: 65,629,915 (GRCm39)	V347E	possibly damaging	Het
Peg3	T	C	7: 6,714,427 (GRCm39)	E265G	probably damaging	Het
Pik3c2b	C	A	1: 133,033,730 (GRCm39)	P1578H	probably damaging	Het
Pkd1	A	G	17: 24,814,193 (GRCm39)	S4188G	probably benign	Het
Ppp1r26	A	G	2: 28,342,314 (GRCm39)	D648G	probably damaging	Het
Ptprs	A	G	17: 56,726,621 (GRCm39)		probably null	Het
Rab24	A	T	13: 55,468,738 (GRCm39)		probably null	Het
Rap1gap2	A	T	11: 74,332,592 (GRCm39)	M71K	probably damaging	Het
Rergl	T	G	6: 139,473,524 (GRCm39)	K42T	probably damaging	Het
Rigi	C	T	4: 40,216,354 (GRCm39)		probably null	Het
Septin5	T	C	16: 18,443,647 (GRCm39)	T92A	probably benign	Het
Ski	A	G	4: 155,243,743 (GRCm39)		probably null	Het
Slc17a8	A	G	10: 89,412,192 (GRCm39)	S414P	probably benign	Het
Slc25a36	A	T	9: 96,979,228 (GRCm39)	I71N	probably damaging	Het
Syne2	A	C	12: 76,155,636 (GRCm39)		probably null	Het
Tdrd5	C	A	1: 156,090,511 (GRCm39)	W845L	probably damaging	Het
Tfb2m	T	C	1: 179,365,389 (GRCm39)	I192V	possibly damaging	Het
Tll1	T	G	8: 64,551,505 (GRCm39)	D292A	probably damaging	Het
Trank1	A	C	9: 111,162,876 (GRCm39)	D45A	probably damaging	Het
Trim17	T	A	11: 58,859,320 (GRCm39)	V178E	probably damaging	Het
Trim9	A	T	12: 70,393,359 (GRCm39)	L195Q	probably damaging	Het
Ttc27	A	T	17: 75,163,544 (GRCm39)	R717S	possibly damaging	Het
Upk2	G	T	9: 44,365,418 (GRCm39)	P50Q	probably damaging	Het
Usp9y	A	T	Y: 1,307,880 (GRCm39)	C2319S	probably benign	Het
Vmn1r4	G	T	6: 56,933,883 (GRCm39)	C129F	probably benign	Het
Vmn2r100	A	T	17: 19,742,178 (GRCm39)	D184V	probably damaging	Het
Xpnpep3	T	G	15: 81,311,693 (GRCm39)	I133S	possibly damaging	Het
Zfp628	A	T	7: 4,922,939 (GRCm39)	Q387L	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,713,776 (GRCm39)		probably benign	Het

Other mutations in Akr1c14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01759:Akr1c14	APN	13	4,131,139 (GRCm39)	missense	probably damaging	1.00
IGL02085:Akr1c14	APN	13	4,128,035 (GRCm39)	nonsense	probably null
IGL02201:Akr1c14	APN	13	4,131,022 (GRCm39)	missense	probably damaging	1.00
IGL02419:Akr1c14	APN	13	4,130,617 (GRCm39)	critical splice acceptor site	probably null
IGL03293:Akr1c14	APN	13	4,129,130 (GRCm39)	nonsense	probably null
PIT4362001:Akr1c14	UTSW	13	4,129,100 (GRCm39)	missense	probably damaging	1.00
R2168:Akr1c14	UTSW	13	4,131,106 (GRCm39)	missense	probably damaging	1.00
R4751:Akr1c14	UTSW	13	4,115,338 (GRCm39)	missense	possibly damaging	0.61
R4812:Akr1c14	UTSW	13	4,129,165 (GRCm39)	missense	probably damaging	1.00
R5030:Akr1c14	UTSW	13	4,129,102 (GRCm39)	missense	probably damaging	1.00
R6329:Akr1c14	UTSW	13	4,137,302 (GRCm39)	missense	probably damaging	1.00
R6590:Akr1c14	UTSW	13	4,113,713 (GRCm39)	missense	possibly damaging	0.90
R6612:Akr1c14	UTSW	13	4,115,331 (GRCm39)	missense	probably benign	0.00
R6690:Akr1c14	UTSW	13	4,113,713 (GRCm39)	missense	possibly damaging	0.90
R7033:Akr1c14	UTSW	13	4,129,178 (GRCm39)	critical splice donor site	probably null
R7200:Akr1c14	UTSW	13	4,131,051 (GRCm39)	missense	probably benign	0.00
R7257:Akr1c14	UTSW	13	4,138,966 (GRCm39)	missense	probably benign	0.03
R7432:Akr1c14	UTSW	13	4,138,952 (GRCm39)	missense	probably benign
R7536:Akr1c14	UTSW	13	4,113,690 (GRCm39)	missense	probably damaging	1.00
R7769:Akr1c14	UTSW	13	4,109,644 (GRCm39)	missense	probably benign	0.00
R7941:Akr1c14	UTSW	13	4,109,713 (GRCm39)	missense	probably benign
R8292:Akr1c14	UTSW	13	4,130,995 (GRCm39)	missense	possibly damaging	0.89
R8700:Akr1c14	UTSW	13	4,131,157 (GRCm39)	critical splice donor site	probably benign
R9135:Akr1c14	UTSW	13	4,128,029 (GRCm39)	missense	probably damaging	1.00
R9224:Akr1c14	UTSW	13	4,130,695 (GRCm39)	missense	possibly damaging	0.51
R9263:Akr1c14	UTSW	13	4,113,620 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGACATCATTCTGGTTTCCTACTGCAC -3'
(R):5'- ACAAATGCTTCCTACAGCTCTGTCATC -3'

Sequencing Primer
(F):5'- CTGCACATTGGGAAGTTCAC -3'
(R):5'- ACAGCTCTGTCATCACCTTC -3'

Posted On

2013-06-12