Mutagenetix > Incidental Mutation

Incidental Mutation 'R5301:Akr1c20'

404264

Institutional Source

Beutler Lab

Gene Symbol

Akr1c20

Ensembl Gene

ENSMUSG00000054757

Gene Name

aldo-keto reductase family 1, member C20

Synonyms

2610528B18Rik

MMRRC Submission

042884-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5301 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4536848-4573344 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4573279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 12 (D12V)

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: D12V

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

SMART Domains

Protein: ENSMUSP00000077363
Gene: ENSMUSG00000054757
AA Change: D12V

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 damaging
Transcript: ENSMUST00000080361
AA Change: D12V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000079232
Gene: ENSMUSG00000054757
AA Change: D12V

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

Predicted Effect

unknown
Transcript: ENSMUST00000221564
AA Change: D11V

Meta Mutation Damage Score

0.8222

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

93% (52/56)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,896,502 (GRCm39)	V578A	probably damaging	Het
Abcb11	T	C	2: 69,117,191 (GRCm39)	I486V	probably damaging	Het
Abcc9	G	A	6: 142,536,207 (GRCm39)	T1509I	probably benign	Het
Asb1	A	G	1: 91,482,475 (GRCm39)	Y66C	probably damaging	Het
Atg14	G	A	14: 47,805,656 (GRCm39)	R70C	probably damaging	Het
Bcl10	A	G	3: 145,636,342 (GRCm39)	D80G	probably damaging	Het
Bdnf	T	C	2: 109,553,884 (GRCm39)	V46A	probably benign	Het
Cyp11a1	A	G	9: 57,926,544 (GRCm39)		probably benign	Het
Cyp3a44	A	G	5: 145,725,326 (GRCm39)	S292P	probably damaging	Het
Desi2	A	G	1: 178,071,952 (GRCm39)	I85M	probably benign	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dock10	T	C	1: 80,625,973 (GRCm39)	D49G	probably benign	Het
Epcam	T	A	17: 87,944,305 (GRCm39)	L20Q	possibly damaging	Het
Ercc4	T	C	16: 12,948,550 (GRCm39)	V589A	probably damaging	Het
Fcgbp	A	T	7: 27,793,099 (GRCm39)	K1034N	possibly damaging	Het
Fras1	C	T	5: 96,805,125 (GRCm39)	L1256F	possibly damaging	Het
Gata5	T	C	2: 179,975,786 (GRCm39)	Y126C	probably damaging	Het
Gja1	T	C	10: 56,264,475 (GRCm39)	L278P	probably damaging	Het
Gm11596	C	A	11: 99,683,847 (GRCm39)	R91L	unknown	Het
Gm29125	A	T	1: 80,362,154 (GRCm39)		noncoding transcript	Het
Hcrtr1	G	T	4: 130,031,463 (GRCm39)		probably null	Het
Ifi207	G	A	1: 173,556,977 (GRCm39)	S587L	possibly damaging	Het
Ino80d	T	C	1: 63,113,578 (GRCm39)	T291A	probably benign	Het
Itgb3	A	G	11: 104,524,480 (GRCm39)		probably null	Het
Kif26b	A	G	1: 178,358,233 (GRCm39)	S115G	unknown	Het
Klc3	T	C	7: 19,130,274 (GRCm39)	Y301C	probably damaging	Het
Klhl18	G	C	9: 110,265,195 (GRCm39)	N335K	possibly damaging	Het
Meioc	A	T	11: 102,570,871 (GRCm39)	R867S	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Mthfd2	C	A	6: 83,287,465 (GRCm39)	G200V	probably damaging	Het
Nrap	A	G	19: 56,367,541 (GRCm39)	I312T	probably damaging	Het
Nrp1	T	G	8: 129,160,678 (GRCm39)		probably null	Het
Obscn	A	G	11: 59,026,234 (GRCm39)	L323P	probably damaging	Het
Or11g1	T	C	14: 50,651,030 (GRCm39)	S10P	probably benign	Het
Or1b1	C	T	2: 36,995,210 (GRCm39)	V151M	probably benign	Het
Or9i14	G	A	19: 13,792,933 (GRCm39)	T7I	probably damaging	Het
Pkn2	A	C	3: 142,544,967 (GRCm39)		probably null	Het
Ppp1r18	A	G	17: 36,179,237 (GRCm39)	R371G	probably benign	Het
Prkar2b	A	C	12: 32,025,927 (GRCm39)	V31G	probably damaging	Het
Reg3b	T	A	6: 78,348,243 (GRCm39)	M19K	probably damaging	Het
Sec14l2	G	A	11: 4,068,727 (GRCm39)		probably benign	Het
Sgca	C	T	11: 94,854,157 (GRCm39)	R104Q	probably damaging	Het
Slc17a6	A	G	7: 51,308,519 (GRCm39)	Y281C	probably damaging	Het
Sorcs2	A	G	5: 36,196,734 (GRCm39)	V637A	probably damaging	Het
Tdrd9	T	A	12: 112,002,963 (GRCm39)		probably null	Het
Tmem181a	T	C	17: 6,346,070 (GRCm39)	I229T	possibly damaging	Het
Tmpo	A	T	10: 90,985,650 (GRCm39)		probably benign	Het
Ttc41	T	C	10: 86,555,384 (GRCm39)	V280A	probably benign	Het
Vmn1r234	G	T	17: 21,449,589 (GRCm39)	V168F	probably benign	Het
Vmn2r96	T	A	17: 18,817,950 (GRCm39)	I701N	probably damaging	Het
Wnt16	T	A	6: 22,297,848 (GRCm39)	M238K	probably damaging	Het
Zfp607b	A	G	7: 27,403,172 (GRCm39)	T543A	probably benign	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
R4514: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
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'- TCATGCTTAATGTCACATCTGC -3'
(R):5'- CCTCTTCATGTGTGCAAAGC -3'

Sequencing Primer
(F):5'- CTTGCAAAAGGACTAACTCTAGACTG -3'
(R):5'- GCAAAGCTGCTTTCATTTCTTCTG -3'

Posted On

2016-07-22