Mutagenetix > Incidental Mutation

Incidental Mutation 'R7200:Akr1c14'

560250

Institutional Source

Beutler Lab

Gene Symbol

Akr1c14

Ensembl Gene

ENSMUSG00000033715

Gene Name

aldo-keto reductase family 1, member C14

Synonyms

9030611N15Rik

MMRRC Submission

045278-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7200 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4099015-4140569 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4131051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 248 (Y248H)

Ref Sequence

ENSEMBL: ENSMUSP00000045394 (fasta)

Gene Model

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

AlphaFold

Q91WT7

Predicted Effect

probably benign
Transcript: ENSMUST00000041768
AA Change: Y248H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000045394
Gene: ENSMUSG00000033715
AA Change: Y248H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000118717
AA Change: Y248H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000112664
Gene: ENSMUSG00000033715
AA Change: Y248H

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	A	G	11: 65,043,836 (GRCm39)	M75T	unknown	Het
2700049A03Rik	T	G	12: 71,187,680 (GRCm39)	N105K	probably damaging	Het
Acvr1c	A	T	2: 58,205,867 (GRCm39)	V31E	probably damaging	Het
Adra1d	T	A	2: 131,403,170 (GRCm39)	T307S	probably benign	Het
Ankub1	T	C	3: 57,580,406 (GRCm39)	T84A	probably benign	Het
Asb3	C	A	11: 30,948,348 (GRCm39)	S8*	probably null	Het
AU041133	G	A	10: 81,986,935 (GRCm39)	G196D	possibly damaging	Het
B4galt7	T	C	13: 55,756,155 (GRCm39)	C214R	probably damaging	Het
Chd3	A	G	11: 69,254,921 (GRCm39)	S140P	possibly damaging	Het
Ciz1	T	C	2: 32,254,299 (GRCm39)	L80P	probably damaging	Het
Col6a4	G	A	9: 105,949,448 (GRCm39)	P729L	possibly damaging	Het
Cr2	A	G	1: 194,845,557 (GRCm39)	C133R	probably damaging	Het
Dmgdh	T	C	13: 93,828,393 (GRCm39)	L178P	probably damaging	Het
Dock5	C	A	14: 68,009,151 (GRCm39)	E1448*	probably null	Het
Elavl1	A	G	8: 4,361,767 (GRCm39)	S2P	probably benign	Het
Flywch1	T	C	17: 23,980,033 (GRCm39)	H247R	possibly damaging	Het
Gabpb1	A	T	2: 126,481,222 (GRCm39)	I309N	possibly damaging	Het
Glrx3	T	C	7: 137,066,165 (GRCm39)	F298L	possibly damaging	Het
Gpc6	G	A	14: 118,202,268 (GRCm39)	V493I	probably benign	Het
H2-T13	A	T	17: 36,391,938 (GRCm39)	I45N	possibly damaging	Het
Hadha	C	T	5: 30,350,315 (GRCm39)	E78K	probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Ldlrad3	G	T	2: 101,943,903 (GRCm39)	F56L	probably damaging	Het
Ldlrad3	A	G	2: 101,943,905 (GRCm39)	F56L	probably damaging	Het
Mapk4	A	T	18: 74,063,990 (GRCm39)	S411T	possibly damaging	Het
Mcm9	A	G	10: 53,492,019 (GRCm39)	M382T		Het
Muc21	TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT	TCCTGAGGCAGTGCTGGAT	17: 35,933,525 (GRCm39)		probably benign	Het
Or2t6	A	T	14: 14,175,477 (GRCm38)	C202S	probably damaging	Het
Or5b104	T	C	19: 13,072,596 (GRCm39)	T139A	probably benign	Het
Pacs1	A	C	19: 5,206,441 (GRCm39)	I248S	possibly damaging	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Plekhg1	T	C	10: 3,906,810 (GRCm39)	S631P		Het
Rars2	A	T	4: 34,645,747 (GRCm39)	K221N	probably benign	Het
Retsat	T	C	6: 72,583,002 (GRCm39)	S388P	possibly damaging	Het
Rft1	G	A	14: 30,404,814 (GRCm39)		probably null	Het
Rgsl1	A	G	1: 153,660,945 (GRCm39)	V345A	probably benign	Het
Rnf38	A	T	4: 44,137,620 (GRCm39)	S320R	probably benign	Het
Sel1l3	T	A	5: 53,301,451 (GRCm39)	Y722F	probably benign	Het
Slc13a4	T	C	6: 35,264,285 (GRCm39)	E194G	possibly damaging	Het
Spata17	G	A	1: 186,844,700 (GRCm39)	R300C	probably benign	Het
Tacc1	G	A	8: 25,731,656 (GRCm39)		probably benign	Het
Tc2n	T	G	12: 101,655,314 (GRCm39)	I214L	probably damaging	Het
Tet2	T	C	3: 133,192,953 (GRCm39)	S494G	probably benign	Het
Tmco5b	A	T	2: 113,121,722 (GRCm39)	I179L	probably damaging	Het
Triobp	AGGGACAATCCCAGGGCCTCCTCTCCCAACAGAACTACTCAGCGGGACAA	AGGGACAA	15: 78,851,042 (GRCm39)		probably benign	Het
Trpv1	A	G	11: 73,130,412 (GRCm39)	T173A	probably damaging	Het
Vmn2r56	C	T	7: 12,444,259 (GRCm39)	G458R	probably damaging	Het
Vmn2r81	T	G	10: 79,106,570 (GRCm39)		probably null	Het
Wfdc15b	T	A	2: 164,057,037 (GRCm39)	E80D	probably benign	Het
Wrn	A	T	8: 33,812,376 (GRCm39)	D423E	probably benign	Het
Zfp775	T	A	6: 48,597,415 (GRCm39)	C430S	possibly damaging	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
R0518:Akr1c14	UTSW	13	4,131,016 (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
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'- GACCTAGCAGAGAACAGTTGTAT -3'
(R):5'- GAGGACCCGTGTTAAGGATG -3'

Sequencing Primer
(F):5'- GTATATTTATGGTCTGCACACCTG -3'
(R):5'- CTTTAATCTCAGCACTCGGGAGG -3'

Posted On

2019-06-26