Mutagenetix > Incidental Mutation

Incidental Mutation 'R4545:Akr1c20'

384565

Institutional Source

Beutler Lab

Gene Symbol

Akr1c20

Ensembl Gene

ENSMUSG00000054757

Gene Name

aldo-keto reductase family 1, member C20

Synonyms

2610528B18Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4545 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4486849-4523345 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 4507844 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 201 (V201G)

Ref Sequence

ENSEMBL: ENSMUSP00000077363 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078239] [ENSMUST00000080361]

AlphaFold

Q8VC77

Predicted Effect

probably damaging
Transcript: ENSMUST00000078239
AA Change: V201G

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

SMART Domains

Protein: ENSMUSP00000077363
Gene: ENSMUSG00000054757
AA Change: V201G

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	18	98	4.7e-12	PFAM
Pfam:Aldo_ket_red	87	260	6e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000080361
AA Change: V228G

PolyPhen 2 Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000079232
Gene: ENSMUSG00000054757
AA Change: V228G

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	18	301	2.8e-55	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000221564
AA Change: V200G

Meta Mutation Damage Score

0.5944

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atf7	A	G	15: 102,534,327	V449A	probably benign	Het
Ccr1	G	A	9: 123,964,400	A31V	probably benign	Het
Chrna6	A	T	8: 27,406,683	S389T	probably benign	Het
Clic6	C	T	16: 92,492,157		probably benign	Het
Cmya5	G	A	13: 93,091,918	R2221*	probably null	Het
Coq8b	G	T	7: 27,233,505	C13F	probably benign	Het
Cspg4	T	A	9: 56,888,629	L1216Q	possibly damaging	Het
Decr1	C	A	4: 15,930,979	V118F	probably damaging	Het
Dlec1	A	T	9: 119,128,078	I796F	probably damaging	Het
Dnajc11	T	A	4: 151,979,941	D516E	probably damaging	Het
Dock8	G	A	19: 25,188,358	V1869M	probably damaging	Het
Dst	A	G	1: 34,188,738	D1982G	probably damaging	Het
Gm11808	C	T	4: 3,973,244	R106H	probably benign	Het
Gnptab	G	A	10: 88,414,595	D190N	probably benign	Het
Golga4	A	G	9: 118,556,845	K22E	probably damaging	Het
Hecw2	T	C	1: 53,813,222	*1579W	probably null	Het
Ica1l	A	G	1: 60,013,818		probably null	Het
Ift122	T	A	6: 115,890,588	L433Q	probably damaging	Het
Iqgap1	T	C	7: 80,762,567		probably null	Het
Klra13-ps	T	C	6: 130,291,269		noncoding transcript	Het
Mndal	A	T	1: 173,875,664	Y58*	probably null	Het
Mvb12b	G	C	2: 33,827,700	P172R	possibly damaging	Het
Ncapg	T	C	5: 45,671,212	F102L	probably damaging	Het
Olfr1447	T	A	19: 12,901,268	K171*	probably null	Het
Olfr235	T	C	19: 12,268,824	V198A	possibly damaging	Het
Olfr390	T	C	11: 73,787,166	V76A	probably damaging	Het
Pde8a	A	T	7: 81,328,099	R713S	probably damaging	Het
Rbks	T	C	5: 31,624,568	N296S	probably benign	Het
Sema3c	G	A	5: 17,694,772	V421I	probably benign	Het
Tm9sf1	A	G	14: 55,638,108	V393A	possibly damaging	Het
Tubgcp2	G	A	7: 139,996,071	P893L	possibly damaging	Het
Vnn3	G	A	10: 23,856,326	R158H	probably benign	Het
Zfa-ps	G	T	10: 52,544,936		noncoding transcript	Het
Zfp414	T	C	17: 33,631,648		probably benign	Het
Zfp810	G	A	9: 22,278,745	T289I	probably damaging	Het
Zfp819	G	T	7: 43,617,785	R488L	probably damaging	Het
Zfp942	C	T	17: 21,928,304	G448D	probably benign	Het
Zscan12	A	G	13: 21,366,705	K165E	possibly damaging	Het

Other mutations in Akr1c20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Akr1c20	APN	13	4512665	critical splice donor site	probably null
IGL01799:Akr1c20	APN	13	4514258	splice site	probably null
IGL01930:Akr1c20	APN	13	4507648	intron	probably benign
IGL02277:Akr1c20	APN	13	4514405	missense	probably benign	0.01
IGL02811:Akr1c20	APN	13	4512683	missense	possibly damaging	0.86
IGL03349:Akr1c20	APN	13	4508250	nonsense	probably null
R0165:Akr1c20	UTSW	13	4523296	missense	probably benign	0.02
R0193:Akr1c20	UTSW	13	4511293	splice site	probably benign
R0440:Akr1c20	UTSW	13	4487208	missense	probably benign	0.01
R1248:Akr1c20	UTSW	13	4514400	missense	possibly damaging	0.52
R1396:Akr1c20	UTSW	13	4507727	missense	probably damaging	1.00
R1735:Akr1c20	UTSW	13	4487208	missense	probably benign	0.00
R2325:Akr1c20	UTSW	13	4523296	missense	probably benign	0.02
R2359:Akr1c20	UTSW	13	4523277	missense	probably damaging	0.96
R2878:Akr1c20	UTSW	13	4507775	missense	probably damaging	1.00
R3712:Akr1c20	UTSW	13	4510223	missense	probably damaging	1.00
R4512:Akr1c20	UTSW	13	4507844	missense	probably damaging	1.00
R4514:Akr1c20	UTSW	13	4507844	missense	probably damaging	1.00
R4544:Akr1c20	UTSW	13	4507844	missense	probably damaging	1.00
R4781:Akr1c20	UTSW	13	4508175	nonsense	probably null
R5301:Akr1c20	UTSW	13	4523280	missense	probably damaging	1.00
R5826:Akr1c20	UTSW	13	4510223	missense	probably damaging	1.00
R7122:Akr1c20	UTSW	13	4511276	missense	probably benign	0.01
R7661:Akr1c20	UTSW	13	4508219	missense	probably benign	0.00
R7832:Akr1c20	UTSW	13	4512672	missense	probably damaging	1.00
R8914:Akr1c20	UTSW	13	4511216	missense	probably benign	0.04
R9764:Akr1c20	UTSW	13	4514389	missense	probably benign	0.04
Z1177:Akr1c20	UTSW	13	4523244	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGGACTATCAACAATGTATTTCGGGC -3'
(R):5'- TCCATGTACTGAAAATCCTGGC -3'

Sequencing Primer
(F):5'- CTGTGTAGGTGCCTAATACCCAAAG -3'
(R):5'- AATCCTGGCATATATATCAACCTTCC -3'

Posted On

2016-04-29