Mutagenetix > Incidental Mutation

Incidental Mutation 'R1983:D630003M21Rik'

220088

Institutional Source

Beutler Lab

Gene Symbol

D630003M21Rik

Ensembl Gene

ENSMUSG00000037813

Gene Name

RIKEN cDNA D630003M21 gene

Synonyms

MMRRC Submission

039995-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R1983 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

158182533-158229222 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 158208421 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 714 (F714L)

Ref Sequence

ENSEMBL: ENSMUSP00000040546 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046944] [ENSMUST00000103121] [ENSMUST00000169335]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000046944
AA Change: F714L

PolyPhen 2 Score 0.339 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000040546
Gene: ENSMUSG00000037813
AA Change: F714L

Domain	Start	End	E-Value	Type
low complexity region	321	333	N/A	INTRINSIC
low complexity region	422	435	N/A	INTRINSIC
low complexity region	517	535	N/A	INTRINSIC
Blast:SEC14	567	702	1e-6	BLAST
SCOP:d1aua_2	567	711	5e-9	SMART
Blast:SPEC	712	824	3e-16	BLAST
low complexity region	826	839	N/A	INTRINSIC
low complexity region	903	911	N/A	INTRINSIC
low complexity region	918	929	N/A	INTRINSIC
low complexity region	1160	1174	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103121
AA Change: F714L

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000099410
Gene: ENSMUSG00000037813
AA Change: F714L

Domain	Start	End	E-Value	Type
low complexity region	321	333	N/A	INTRINSIC
low complexity region	422	435	N/A	INTRINSIC
low complexity region	517	535	N/A	INTRINSIC
Blast:SEC14	567	702	7e-7	BLAST
SCOP:d1aua_2	567	711	4e-9	SMART
Blast:SPEC	712	824	3e-16	BLAST
low complexity region	826	839	N/A	INTRINSIC
low complexity region	903	911	N/A	INTRINSIC
low complexity region	918	929	N/A	INTRINSIC
low complexity region	1095	1106	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169335
AA Change: F714L

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000130623
Gene: ENSMUSG00000037813
AA Change: F714L

Domain	Start	End	E-Value	Type
low complexity region	321	333	N/A	INTRINSIC
low complexity region	422	435	N/A	INTRINSIC
low complexity region	517	535	N/A	INTRINSIC
Blast:SEC14	567	702	7e-7	BLAST
SCOP:d1aua_2	567	711	4e-9	SMART
Blast:SPEC	712	824	3e-16	BLAST
low complexity region	826	839	N/A	INTRINSIC
low complexity region	903	911	N/A	INTRINSIC
low complexity region	918	929	N/A	INTRINSIC
low complexity region	1095	1106	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	T	A	17: 14,944,010	V133E	probably damaging	Het
4932438A13Rik	A	G	3: 36,887,865	D273G	probably null	Het
Aco1	G	A	4: 40,175,845	G160S	probably benign	Het
Actn2	C	T	13: 12,278,810	R608H	probably benign	Het
Adora2a	A	C	10: 75,333,646	S315R	probably benign	Het
Arhgap42	T	C	9: 9,017,017	Y382C	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Atg4c	A	G	4: 99,228,575	Y318C	probably damaging	Het
Baz2a	C	T	10: 128,123,959	T1408I	probably benign	Het
Bbx	T	A	16: 50,209,117	Q663L	possibly damaging	Het
Btbd3	T	G	2: 138,283,688	L264R	probably damaging	Het
Cfi	T	C	3: 129,868,545	I391T	probably damaging	Het
Chadl	T	C	15: 81,693,896	I45V	probably benign	Het
Chd5	C	A	4: 152,384,666	A1853D	possibly damaging	Het
Cmas	G	T	6: 142,770,586	D251Y	probably damaging	Het
Cyp2d10	A	G	15: 82,405,999	M90T	probably benign	Het
Dguok	A	T	6: 83,487,128	Y126*	probably null	Het
Dnaic1	A	G	4: 41,603,232	K172E	probably benign	Het
Dnaic2	T	A	11: 114,735,856		probably null	Het
Efcab6	A	T	15: 83,892,962		probably benign	Het
Eln	A	T	5: 134,736,340		probably null	Het
Epor	T	C	9: 21,959,400	T395A	probably benign	Het
Evc2	G	T	5: 37,415,931	E996*	probably null	Het
Fam124b	T	A	1: 80,213,647	E6D	probably benign	Het
Fam208b	G	T	13: 3,574,853	T1699K	possibly damaging	Het
Filip1	T	A	9: 79,860,092	K146N	probably damaging	Het
Filip1l	T	C	16: 57,571,274	S742P	probably damaging	Het
Fsip2	G	T	2: 82,979,831	V2165L	probably benign	Het
Gcdh	A	T	8: 84,890,910	V227E	possibly damaging	Het
Gm10696	T	G	3: 94,176,294	D70A	possibly damaging	Het
Gm12185	T	C	11: 48,915,356	N336S	probably benign	Het
Gm12695	G	T	4: 96,738,977	A399E	possibly damaging	Het
Gm16503	T	A	4: 147,541,292	V81E	unknown	Het
Gpr137c	T	C	14: 45,279,971	V388A	probably benign	Het
Hgf	A	G	5: 16,561,012	T49A	possibly damaging	Het
Hspa1a	G	T	17: 34,970,962	R322S	probably benign	Het
Jak3	A	T	8: 71,678,375	Q13L	possibly damaging	Het
Jak3	A	G	8: 71,688,136	R1098G	probably benign	Het
Kif11	C	T	19: 37,390,776	T305I	possibly damaging	Het
Lcor	T	A	19: 41,558,367	V130E	probably damaging	Het
Lmo2	T	C	2: 103,981,062	Y147H	probably damaging	Het
Lrp1b	C	T	2: 41,511,404		probably null	Het
Mdga1	G	A	17: 29,850,605	R430C	probably damaging	Het
Mfsd12	T	A	10: 81,362,256		probably null	Het
Mmp27	T	A	9: 7,578,897		probably null	Het
Mtnr1a	A	T	8: 45,087,434	N144I	probably benign	Het
Mycbp2	T	C	14: 103,145,971	T3563A	probably damaging	Het
Myef2	T	A	2: 125,098,845	M355L	probably benign	Het
Olfr1065	T	A	2: 86,445,076	H302L	probably benign	Het
Olfr1238	A	G	2: 89,406,426	F218L	probably benign	Het
Olfr1457	A	G	19: 13,095,384	I88T	probably benign	Het
Olfr470	C	T	7: 107,845,412	G107D	probably benign	Het
Parg	A	G	14: 32,217,696	K560E	probably damaging	Het
Pck2	G	A	14: 55,544,068		probably null	Het
Pdcd6	T	C	13: 74,304,000	I174V	probably benign	Het
Pomgnt1	T	C	4: 116,151,869	L57S	probably damaging	Het
Pomgnt1	C	A	4: 116,151,920	P74Q	probably benign	Het
Prdm4	T	C	10: 85,907,953	Y146C	probably damaging	Het
Prl2c2	G	C	13: 13,002,201	T47R	probably damaging	Het
Prune2	A	G	19: 17,020,642	M248V	probably damaging	Het
Ric8b	T	A	10: 85,001,838	M503K	probably damaging	Het
Ror2	C	T	13: 53,110,408	V871M	probably benign	Het
Ryr1	T	C	7: 29,059,472	N3427S	possibly damaging	Het
Ryr2	A	G	13: 11,585,402		probably null	Het
Scimp	C	T	11: 70,800,714	V30I	probably damaging	Het
Skint4	A	G	4: 112,146,492	E374G	probably benign	Het
Slc6a20a	A	G	9: 123,640,587	Y482H	probably damaging	Het
Slitrk5	A	G	14: 111,680,389	S482G	probably benign	Het
Strc	T	A	2: 121,371,037	M1229L	possibly damaging	Het
Terf2	T	C	8: 107,083,008	Y226C	probably damaging	Het
Tex10	A	T	4: 48,460,059	L431I	possibly damaging	Het
Tnc	A	G	4: 63,984,630	V1470A	possibly damaging	Het
Ttll13	T	C	7: 80,253,616	I248T	possibly damaging	Het
Ttn	T	A	2: 76,756,760	K21631M	probably damaging	Het
Ttn	T	C	2: 76,789,025	N16031S	possibly damaging	Het
Uroc1	A	T	6: 90,345,369	S292C	probably damaging	Het
Vmn1r80	A	T	7: 12,193,661	M233L	probably benign	Het
Wdr31	A	T	4: 62,460,603	M129K	probably damaging	Het
Wnk1	A	T	6: 119,937,578	N1754K	probably damaging	Het
Xirp1	G	A	9: 120,016,629	Q1063*	probably null	Het
Zfp799	C	A	17: 32,822,110	V32L	probably damaging	Het
Zfyve9	A	T	4: 108,689,189	D874E	possibly damaging	Het

Other mutations in D630003M21Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00905:D630003M21Rik	APN	2	158213412	missense	possibly damaging	0.92
IGL01447:D630003M21Rik	APN	2	158217356	missense	probably benign
IGL01501:D630003M21Rik	APN	2	158201067	missense	probably benign	0.03
IGL01874:D630003M21Rik	APN	2	158204724	missense	probably damaging	1.00
IGL02116:D630003M21Rik	APN	2	158203210	missense	possibly damaging	0.76
IGL02212:D630003M21Rik	APN	2	158210171	missense	probably benign	0.02
IGL02477:D630003M21Rik	APN	2	158217488	missense	probably benign	0.44
IGL02644:D630003M21Rik	APN	2	158216810	missense	possibly damaging	0.87
IGL02861:D630003M21Rik	APN	2	158200998	missense	probably benign	0.03
IGL02896:D630003M21Rik	APN	2	158217285	missense	probably benign	0.00
IGL03089:D630003M21Rik	APN	2	158216744	missense	probably benign
IGL03148:D630003M21Rik	APN	2	158217224	missense	probably damaging	1.00
ANU05:D630003M21Rik	UTSW	2	158196388	missense	probably benign	0.00
ANU18:D630003M21Rik	UTSW	2	158217648	missense	probably benign
F5770:D630003M21Rik	UTSW	2	158201011	missense	probably benign	0.38
R0113:D630003M21Rik	UTSW	2	158196575	missense	possibly damaging	0.92
R0147:D630003M21Rik	UTSW	2	158203067	splice site	probably benign
R0513:D630003M21Rik	UTSW	2	158200308	missense	probably benign	0.44
R0637:D630003M21Rik	UTSW	2	158195407	intron	probably benign
R1594:D630003M21Rik	UTSW	2	158211630	missense	probably damaging	1.00
R1774:D630003M21Rik	UTSW	2	158220470	missense	probably damaging	1.00
R1823:D630003M21Rik	UTSW	2	158217557	missense	probably damaging	1.00
R1864:D630003M21Rik	UTSW	2	158203185	missense	probably damaging	1.00
R2042:D630003M21Rik	UTSW	2	158215849	missense	probably damaging	1.00
R2259:D630003M21Rik	UTSW	2	158204711	missense	probably damaging	1.00
R2350:D630003M21Rik	UTSW	2	158201011	missense	probably damaging	0.96
R3157:D630003M21Rik	UTSW	2	158195472	intron	probably benign
R3937:D630003M21Rik	UTSW	2	158200360	missense	probably damaging	1.00
R4124:D630003M21Rik	UTSW	2	158196593	missense	probably damaging	0.97
R4437:D630003M21Rik	UTSW	2	158213462	missense	probably damaging	1.00
R4473:D630003M21Rik	UTSW	2	158213462	missense	probably damaging	1.00
R4513:D630003M21Rik	UTSW	2	158204802	missense	probably benign	0.01
R4514:D630003M21Rik	UTSW	2	158204802	missense	probably benign	0.01
R4729:D630003M21Rik	UTSW	2	158216703	missense	probably damaging	1.00
R4794:D630003M21Rik	UTSW	2	158196139	missense	probably benign
R4947:D630003M21Rik	UTSW	2	158186196	missense	unknown
R5005:D630003M21Rik	UTSW	2	158211643	missense	possibly damaging	0.87
R5022:D630003M21Rik	UTSW	2	158217633	missense	probably damaging	0.99
R5167:D630003M21Rik	UTSW	2	158205745	missense	probably damaging	1.00
R5191:D630003M21Rik	UTSW	2	158201035	missense	probably benign	0.06
R5488:D630003M21Rik	UTSW	2	158217021	missense	probably benign	0.15
R5489:D630003M21Rik	UTSW	2	158217021	missense	probably benign	0.15
R5495:D630003M21Rik	UTSW	2	158220511	missense	possibly damaging	0.69
R5708:D630003M21Rik	UTSW	2	158220392	splice site	probably null
R5770:D630003M21Rik	UTSW	2	158195580	intron	probably benign
R5789:D630003M21Rik	UTSW	2	158216814	missense	possibly damaging	0.63
R5817:D630003M21Rik	UTSW	2	158196493	missense	probably damaging	1.00
R5898:D630003M21Rik	UTSW	2	158204657	splice site	probably null
R5969:D630003M21Rik	UTSW	2	158217708	missense	probably damaging	1.00
R6084:D630003M21Rik	UTSW	2	158217584	missense	probably damaging	0.99
R6111:D630003M21Rik	UTSW	2	158213448	missense	probably damaging	1.00
R6225:D630003M21Rik	UTSW	2	158217401	missense	probably benign	0.23
R6307:D630003M21Rik	UTSW	2	158215951	missense	probably benign	0.34
R6350:D630003M21Rik	UTSW	2	158220495	missense	probably damaging	1.00
R6548:D630003M21Rik	UTSW	2	158205699	critical splice donor site	probably null
R6583:D630003M21Rik	UTSW	2	158220516	missense	probably damaging	0.98
R6821:D630003M21Rik	UTSW	2	158204774	missense	probably damaging	1.00
R6963:D630003M21Rik	UTSW	2	158200308	missense	probably benign	0.44
R7021:D630003M21Rik	UTSW	2	158216750	missense	possibly damaging	0.59
R7210:D630003M21Rik	UTSW	2	158216012	critical splice acceptor site	probably null
R7345:D630003M21Rik	UTSW	2	158217209	missense	probably damaging	1.00
R7355:D630003M21Rik	UTSW	2	158200224	missense	probably damaging	1.00
R7514:D630003M21Rik	UTSW	2	158217353	missense	probably damaging	1.00
R7587:D630003M21Rik	UTSW	2	158196388	missense	probably benign	0.00
R7587:D630003M21Rik	UTSW	2	158201056	missense	probably damaging	1.00
R7713:D630003M21Rik	UTSW	2	158216778	nonsense	probably null
R7792:D630003M21Rik	UTSW	2	158210162	missense	possibly damaging	0.94
R7819:D630003M21Rik	UTSW	2	158216798	missense	probably damaging	0.97
R7832:D630003M21Rik	UTSW	2	158217668	missense	probably damaging	1.00
R8115:D630003M21Rik	UTSW	2	158216590	missense	probably benign	0.23
R8482:D630003M21Rik	UTSW	2	158216932	missense	probably benign	0.01
R8829:D630003M21Rik	UTSW	2	158216936	missense	probably damaging	0.98
R8928:D630003M21Rik	UTSW	2	158217527	missense	probably damaging	1.00
R9183:D630003M21Rik	UTSW	2	158217192	missense	probably benign	0.00
R9254:D630003M21Rik	UTSW	2	158200963	missense	probably damaging	1.00
R9661:D630003M21Rik	UTSW	2	158205753	missense	possibly damaging	0.72
V7580:D630003M21Rik	UTSW	2	158201011	missense	probably benign	0.38
V7581:D630003M21Rik	UTSW	2	158201011	missense	probably benign	0.38
V7583:D630003M21Rik	UTSW	2	158201011	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- TGGCCTCAAGAGCCTAATGC -3'
(R):5'- TTCTGGACCTACTCAGAGGG -3'

Sequencing Primer
(F):5'- TCAAGAGCCTAATGCCTTACTGGG -3'
(R):5'- TGTGGAGCCTGCACAGAGATC -3'

Posted On

2014-08-25