Mutagenetix > Incidental Mutation

Incidental Mutation 'R4514:Akr1c20'

500643

Institutional Source

Beutler Lab

Gene Symbol

Akr1c20

Ensembl Gene

ENSMUSG00000054757

Gene Name

aldo-keto reductase family 1, member C20

Synonyms

2610528B18Rik

MMRRC Submission

041588-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4514 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4536848-4573344 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 4557843 bp (GRCm39)

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: 99.4%
3x: 98.6%
10x: 96.9%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	G	8: 25,308,152 (GRCm39)	T51P	probably damaging	Het
Alg9	C	T	9: 50,716,654 (GRCm39)	T409M	possibly damaging	Het
Arpp21	T	A	9: 112,006,745 (GRCm39)	T155S	probably damaging	Het
Atm	T	A	9: 53,404,339 (GRCm39)	Q1334L	probably damaging	Het
Bptf	G	A	11: 106,968,518 (GRCm39)	T1055M	probably damaging	Het
Cd3g	C	A	9: 44,884,882 (GRCm39)	A121S	possibly damaging	Het
Cenpn	A	G	8: 117,660,135 (GRCm39)	Y68C	probably damaging	Het
Clock	A	G	5: 76,378,046 (GRCm39)	I618T	probably benign	Het
Cp	A	G	3: 20,042,177 (GRCm39)	M982V	probably damaging	Het
Csf3r	T	A	4: 125,933,653 (GRCm39)	S611T	possibly damaging	Het
Csn3	A	G	5: 88,077,997 (GRCm39)	T168A	unknown	Het
Cylc2	C	G	4: 51,229,651 (GRCm39)	T331R	unknown	Het
D630003M21Rik	T	C	2: 158,046,722 (GRCm39)	T752A	probably benign	Het
Defb34	A	T	8: 19,176,522 (GRCm39)	D71V	probably damaging	Het
Dync1h1	T	A	12: 110,623,573 (GRCm39)	D3615E	possibly damaging	Het
Etl4	A	T	2: 20,666,709 (GRCm39)	T167S	probably damaging	Het
F5	T	A	1: 163,979,566 (GRCm39)		probably benign	Het
Got1l1	C	T	8: 27,688,513 (GRCm39)	M279I	probably benign	Het
Grm7	A	G	6: 111,335,265 (GRCm39)	T559A	possibly damaging	Het
Ifit1	A	T	19: 34,625,913 (GRCm39)	R350*	probably null	Het
Ighv2-5	T	C	12: 113,649,216 (GRCm39)	N79S	possibly damaging	Het
Igkv17-127	A	G	6: 67,838,498 (GRCm39)	I70V	possibly damaging	Het
Itga8	T	C	2: 12,187,547 (GRCm39)	S711G	probably benign	Het
Kndc1	A	G	7: 139,490,202 (GRCm39)	T235A	probably benign	Het
Lct	T	C	1: 128,228,251 (GRCm39)	I1081V	probably benign	Het
Lrrc8b	G	T	5: 105,627,819 (GRCm39)	C55F	probably damaging	Het
Lrwd1	T	C	5: 136,160,402 (GRCm39)	T311A	probably benign	Het
Mapk14	T	C	17: 28,943,798 (GRCm39)	F129S	probably damaging	Het
Mdga2	A	G	12: 66,763,496 (GRCm39)	I200T	probably damaging	Het
Mocos	T	A	18: 24,816,269 (GRCm39)	S615R	probably damaging	Het
Myh4	T	C	11: 67,146,395 (GRCm39)	V1456A	probably benign	Het
Myh9	T	C	15: 77,648,200 (GRCm39)	I1759V	probably benign	Het
Nat8f5	G	A	6: 85,794,405 (GRCm39)	T185I	possibly damaging	Het
Nav3	T	C	10: 109,529,943 (GRCm39)	I2133V	possibly damaging	Het
Ncam2	T	A	16: 81,309,884 (GRCm39)	M458K	probably benign	Het
Nphp1	T	C	2: 127,590,007 (GRCm39)	S532G	probably benign	Het
Oplah	A	G	15: 76,182,155 (GRCm39)	L1035P	probably damaging	Het
Or4p22	T	C	2: 88,317,709 (GRCm39)	V211A	probably benign	Het
Or52h2	C	T	7: 103,838,598 (GRCm39)	R272H	probably benign	Het
Pask	T	A	1: 93,249,855 (GRCm39)	Q515L	probably benign	Het
Poglut1	A	T	16: 38,369,778 (GRCm39)	F35I	probably benign	Het
Ppp1ca	T	G	19: 4,245,054 (GRCm39)	I319S	probably benign	Het
Psg25	T	A	7: 18,263,533 (GRCm39)	R97*	probably null	Het
Sars2	T	C	7: 28,441,709 (GRCm39)		probably null	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Slc16a7	T	G	10: 125,069,308 (GRCm39)		probably null	Het
Slc7a8	C	G	14: 54,973,247 (GRCm39)	G240A	possibly damaging	Het
St6gal2	A	T	17: 55,790,018 (GRCm39)	N351Y	probably benign	Het
Susd5	T	C	9: 113,924,992 (GRCm39)	F292L	probably benign	Het
Tmco5	T	A	2: 116,710,795 (GRCm39)	D38E	probably damaging	Het
Tubgcp2	G	A	7: 139,575,984 (GRCm39)	P893L	possibly damaging	Het
Uncx	A	G	5: 139,532,522 (GRCm39)	I196V	possibly damaging	Het
Zeb1	G	A	18: 5,759,007 (GRCm39)	C138Y	probably damaging	Het
Zfp609	A	G	9: 65,610,977 (GRCm39)	I662T	possibly damaging	Het
Zfp985	G	A	4: 147,668,020 (GRCm39)	C296Y	probably damaging	Het

Other mutations in Akr1c20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00834:Akr1c20	APN	13	4,562,664 (GRCm39)	critical splice donor site	probably null
IGL01799:Akr1c20	APN	13	4,564,257 (GRCm39)	splice site	probably null
IGL01930:Akr1c20	APN	13	4,557,647 (GRCm39)	intron	probably benign
IGL02277:Akr1c20	APN	13	4,564,404 (GRCm39)	missense	probably benign	0.01
IGL02811:Akr1c20	APN	13	4,562,682 (GRCm39)	missense	possibly damaging	0.86
IGL03349:Akr1c20	APN	13	4,558,249 (GRCm39)	nonsense	probably null
R0165:Akr1c20	UTSW	13	4,573,295 (GRCm39)	missense	probably benign	0.02
R0193:Akr1c20	UTSW	13	4,561,292 (GRCm39)	splice site	probably benign
R0440:Akr1c20	UTSW	13	4,537,207 (GRCm39)	missense	probably benign	0.01
R1248:Akr1c20	UTSW	13	4,564,399 (GRCm39)	missense	possibly damaging	0.52
R1396:Akr1c20	UTSW	13	4,557,726 (GRCm39)	missense	probably damaging	1.00
R1735:Akr1c20	UTSW	13	4,537,207 (GRCm39)	missense	probably benign	0.00
R2325:Akr1c20	UTSW	13	4,573,295 (GRCm39)	missense	probably benign	0.02
R2359:Akr1c20	UTSW	13	4,573,276 (GRCm39)	missense	probably damaging	0.96
R2878:Akr1c20	UTSW	13	4,557,774 (GRCm39)	missense	probably damaging	1.00
R3712:Akr1c20	UTSW	13	4,560,222 (GRCm39)	missense	probably damaging	1.00
R4512:Akr1c20	UTSW	13	4,557,843 (GRCm39)	missense	probably damaging	1.00
R4544:Akr1c20	UTSW	13	4,557,843 (GRCm39)	missense	probably damaging	1.00
R4545:Akr1c20	UTSW	13	4,557,843 (GRCm39)	missense	probably damaging	1.00
R4781:Akr1c20	UTSW	13	4,558,174 (GRCm39)	nonsense	probably null
R5301:Akr1c20	UTSW	13	4,573,279 (GRCm39)	missense	probably damaging	1.00
R5826:Akr1c20	UTSW	13	4,560,222 (GRCm39)	missense	probably damaging	1.00
R7122:Akr1c20	UTSW	13	4,561,275 (GRCm39)	missense	probably benign	0.01
R7661:Akr1c20	UTSW	13	4,558,218 (GRCm39)	missense	probably benign	0.00
R7832:Akr1c20	UTSW	13	4,562,671 (GRCm39)	missense	probably damaging	1.00
R8914:Akr1c20	UTSW	13	4,561,215 (GRCm39)	missense	probably benign	0.04
R9764:Akr1c20	UTSW	13	4,564,388 (GRCm39)	missense	probably benign	0.04
Z1177:Akr1c20	UTSW	13	4,573,243 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTAAAGCCCAGATGCACAGG -3'
(R):5'- TTCCATGTACTGAAAATCCTGGC -3'

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

Posted On

2017-12-01