Mutagenetix > Incidental Mutation

Incidental Mutation 'R2198:Akr1c21'

238521

Institutional Source

Beutler Lab

Gene Symbol

Akr1c21

Ensembl Gene

ENSMUSG00000021207

Gene Name

aldo-keto reductase family 1, member C21

Synonyms

MMRRC Submission

040200-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R2198 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4574075-4586541 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4577465 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 186 (P186L)

Ref Sequence

ENSEMBL: ENSMUSP00000152465 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021628] [ENSMUST00000223285]

AlphaFold

Q91WR5

Predicted Effect

probably damaging
Transcript: ENSMUST00000021628
AA Change: P186L

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

SMART Domains

Protein: ENSMUSP00000021628
Gene: ENSMUSG00000021207
AA Change: P186L

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	18	301	2.2e-55	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137279

Predicted Effect

probably damaging
Transcript: ENSMUST00000223285
AA Change: P186L

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932431P20Rik	G	T	7: 29,527,272		noncoding transcript	Het
Adra1a	T	C	14: 66,637,936	I120T	probably damaging	Het
Alpk2	T	C	18: 65,350,184	K251R	probably benign	Het
Ank2	T	C	3: 126,934,577	E789G	possibly damaging	Het
Bag3	AAAGG	AAAGGAAGG	7: 128,545,769		probably null	Het
Cacna2d4	T	C	6: 119,347,259		probably benign	Het
Carf	G	A	1: 60,141,484	R355H	probably damaging	Het
Cdh20	A	T	1: 104,947,322		probably null	Het
Celf6	G	T	9: 59,603,339	L169F	possibly damaging	Het
Cep295nl	A	T	11: 118,332,593	I475N	probably benign	Het
Chdh	T	A	14: 30,031,532	S133T	possibly damaging	Het
Cnot6l	C	T	5: 96,079,941	D478N	possibly damaging	Het
Ctnna3	C	A	10: 65,002,745	T867K	probably benign	Het
Ctse	T	G	1: 131,672,447	Y311*	probably null	Het
Ddx60	T	A	8: 61,958,063	M453K	possibly damaging	Het
Dnah9	A	G	11: 65,859,499	F3927L	possibly damaging	Het
Dsg4	T	C	18: 20,461,442	S543P	probably benign	Het
Dspp	A	T	5: 104,175,701	T237S	probably benign	Het
Eml6	T	G	11: 29,850,935	H357P	probably benign	Het
Epha3	T	C	16: 63,844,144	I38V	possibly damaging	Het
Erap1	C	T	13: 74,646,687	T155I	probably damaging	Het
Erh	T	C	12: 80,642,785		probably benign	Het
F5	A	T	1: 164,207,034	K1834M	probably damaging	Het
Fyn	A	G	10: 39,529,545	E269G	probably benign	Het
Gm4884	A	G	7: 41,040,805	T42A	probably benign	Het
Gm8979	T	A	7: 106,083,551	M166L	probably benign	Het
Grm1	T	G	10: 10,782,776	R323S	probably damaging	Het
Gstt4	T	C	10: 75,822,401	D8G	probably damaging	Het
Ldlr	A	G	9: 21,732,402	D94G	probably damaging	Het
Mrpl54	G	A	10: 81,265,741		probably null	Het
Naip2	A	T	13: 100,152,592	F1210Y	probably damaging	Het
Nifk	A	G	1: 118,329,400	R88G	probably benign	Het
Nlgn1	C	T	3: 25,433,761	M803I	probably damaging	Het
Olfr1388	C	T	11: 49,443,959	S36F	probably benign	Het
Olfr1537	G	A	9: 39,237,752	T224I	possibly damaging	Het
Olfr458	A	G	6: 42,461,016	M1T	probably null	Het
Olfr794	T	A	10: 129,571,046	Y130*	probably null	Het
Pip4k2a	A	T	2: 18,847,655	M272K	probably damaging	Het
Ppp1cb	G	T	5: 32,483,360	C139F	probably damaging	Het
Rad23b	G	A	4: 55,385,497	G345R	possibly damaging	Het
Shc4	A	T	2: 125,639,346	V548E	possibly damaging	Het
Slc26a9	A	G	1: 131,763,263		probably benign	Het
Slc8a1	T	A	17: 81,408,256	K783*	probably null	Het
Sobp	A	C	10: 43,022,524	I355S	possibly damaging	Het
Thbs4	A	G	13: 92,763,271	Y491H	possibly damaging	Het
Tle2	T	C	10: 81,590,313	V727A	probably damaging	Het
Tmprss9	C	T	10: 80,887,459	P251L	probably damaging	Het
Tnks	A	T	8: 34,848,649	D994E	probably benign	Het
Tnks	C	T	8: 34,873,067	D466N	probably benign	Het
Tonsl	A	G	15: 76,636,672	F394L	probably benign	Het
Trpa1	T	A	1: 14,910,746	Y144F	probably benign	Het
Usp22	A	G	11: 61,159,337	F324S	probably damaging	Het
Vmn1r78	G	T	7: 12,152,560	V33F	probably benign	Het
Wdr81	C	T	11: 75,446,081	R1494Q	probably benign	Het
Zc3h14	G	A	12: 98,752,810	V145M	possibly damaging	Het
Zc3h14	G	A	12: 98,752,809	M144I	probably damaging	Het
Zfp82	T	C	7: 30,057,511	T49A	probably benign	Het

Other mutations in Akr1c21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00645:Akr1c21	APN	13	4576313	missense	probably damaging	1.00
IGL01093:Akr1c21	APN	13	4581140	splice site	probably benign
IGL01408:Akr1c21	APN	13	4577432	missense	probably benign
IGL02470:Akr1c21	APN	13	4577407	missense	probably damaging	1.00
IGL02683:Akr1c21	APN	13	4576313	missense	probably damaging	1.00
IGL02738:Akr1c21	APN	13	4580301	missense	probably damaging	1.00
IGL03126:Akr1c21	APN	13	4577458	missense	possibly damaging	0.76
IGL03365:Akr1c21	APN	13	4583852	missense	probably benign	0.00
R0166:Akr1c21	UTSW	13	4581264	missense	probably damaging	1.00
R0391:Akr1c21	UTSW	13	4581200	missense	probably damaging	1.00
R0505:Akr1c21	UTSW	13	4576307	missense	probably damaging	1.00
R1069:Akr1c21	UTSW	13	4575334	splice site	probably benign
R1168:Akr1c21	UTSW	13	4583837	missense	probably benign	0.04
R1617:Akr1c21	UTSW	13	4576352	splice site	probably null
R1686:Akr1c21	UTSW	13	4577453	missense	probably damaging	1.00
R1694:Akr1c21	UTSW	13	4575178	missense	probably damaging	0.98
R1753:Akr1c21	UTSW	13	4577135	nonsense	probably null
R1977:Akr1c21	UTSW	13	4574212	missense	probably damaging	1.00
R2005:Akr1c21	UTSW	13	4574215	missense	probably damaging	1.00
R2036:Akr1c21	UTSW	13	4576306	missense	probably damaging	0.98
R2925:Akr1c21	UTSW	13	4576350	splice site	probably null
R4965:Akr1c21	UTSW	13	4580305	missense	probably damaging	1.00
R6245:Akr1c21	UTSW	13	4575232	missense	possibly damaging	0.93
R6381:Akr1c21	UTSW	13	4574184	missense	probably damaging	1.00
R6711:Akr1c21	UTSW	13	4577375	missense	probably damaging	1.00
R6843:Akr1c21	UTSW	13	4575214	missense	probably damaging	1.00
R6998:Akr1c21	UTSW	13	4583851	missense	probably benign	0.05
R7253:Akr1c21	UTSW	13	4577140	missense	probably damaging	1.00
R7475:Akr1c21	UTSW	13	4576319	missense	probably benign	0.09
R8389:Akr1c21	UTSW	13	4576279	missense	probably damaging	0.96
R8391:Akr1c21	UTSW	13	4576279	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GGCTGAGGAAATATTCATGGC -3'
(R):5'- TTGACCACAGTCTACTTTGATCATC -3'

Sequencing Primer
(F):5'- GCTGAGGAAATATTCATGGCTTTATG -3'
(R):5'- TTTAATCCCAGTACTCAGGAGGCAG -3'

Posted On

2014-10-02