Mutagenetix > Incidental Mutation

Incidental Mutation 'R3937:D630003M21Rik'

307207

Institutional Source

Beutler Lab

Gene Symbol

D630003M21Rik

Ensembl Gene

ENSMUSG00000037813

Gene Name

RIKEN cDNA D630003M21 gene

Synonyms

MMRRC Submission

040921-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R3937 (G1)

Quality Score

130

Status

Validated

Chromosome

Chromosomal Location

158182533-158229222 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 158200360 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 889 (Y889H)

Ref Sequence

ENSEMBL: ENSMUSP00000130623 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000046944
AA Change: Y889H

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

SMART Domains

Protein: ENSMUSP00000040546
Gene: ENSMUSG00000037813
AA Change: Y889H

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 damaging
Transcript: ENSMUST00000103121
AA Change: Y889H

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

SMART Domains

Protein: ENSMUSP00000099410
Gene: ENSMUSG00000037813
AA Change: Y889H

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

noncoding transcript
Transcript: ENSMUST00000109506

Predicted Effect

probably damaging
Transcript: ENSMUST00000169335
AA Change: Y889H

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

SMART Domains

Protein: ENSMUSP00000130623
Gene: ENSMUSG00000037813
AA Change: Y889H

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

Meta Mutation Damage Score

0.1024

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	G	4: 147,942,053	S343R	possibly damaging	Het
Abca8b	G	T	11: 109,974,567	P355T	probably benign	Het
Abhd15	T	C	11: 77,515,938	V247A	probably benign	Het
Adamts1	C	T	16: 85,795,619	V634M	possibly damaging	Het
BC049715	T	C	6: 136,840,455	I231T	possibly damaging	Het
Chpf	A	T	1: 75,477,540	V198E	probably damaging	Het
Cp	C	T	3: 19,971,034	P386S	probably damaging	Het
Cth	A	G	3: 157,920,040	I107T	possibly damaging	Het
Ctrc	T	C	4: 141,840,321	D157G	probably damaging	Het
Elavl3	A	G	9: 22,018,744	V288A	probably damaging	Het
Esyt3	A	T	9: 99,336,192	I130K	probably benign	Het
F13a1	A	T	13: 36,916,901	V423D	probably damaging	Het
Faf1	T	C	4: 109,757,692		probably benign	Het
Fam227b	A	T	2: 126,127,060	D31E	probably benign	Het
Fastkd2	A	G	1: 63,737,836	D377G	possibly damaging	Het
Fbxl6	G	A	15: 76,536,624	R384*	probably null	Het
Fcamr	A	T	1: 130,804,576	H44L	probably damaging	Het
Fhod3	A	G	18: 25,090,761	N1055D	probably benign	Het
Garem1	A	T	18: 21,148,806	Y164*	probably null	Het
Gemin4	C	T	11: 76,212,888	C349Y	probably damaging	Het
Gnal	A	G	18: 67,135,370		probably null	Het
Hacl1	T	C	14: 31,634,191		probably benign	Het
Hectd3	T	C	4: 116,998,530	V409A	probably benign	Het
Hps6	A	G	19: 46,004,053	E143G	probably damaging	Het
Hspa4	T	A	11: 53,270,949	I459L	probably benign	Het
Ighv3-6	G	A	12: 114,288,441	Q21*	probably null	Het
Ints3	G	A	3: 90,403,987	R438*	probably null	Het
Jmjd6	T	C	11: 116,841,165	N237D	probably benign	Het
Lrrk2	C	A	15: 91,778,504	T1912K	probably damaging	Het
Mdga2	C	A	12: 67,221,206		probably benign	Het
Mroh2a	A	G	1: 88,258,664	S64G	probably benign	Het
Myh6	T	C	14: 54,963,055	D203G	probably benign	Het
Myo5b	T	C	18: 74,716,037	S1116P	probably damaging	Het
Nalcn	T	A	14: 123,369,945	D704V	probably benign	Het
Nes	A	T	3: 87,971,236	M12L	probably benign	Het
Olfr1052	T	A	2: 86,298,016	S67T	probably damaging	Het
Olfr118	A	G	17: 37,672,967	T315A	probably benign	Het
Olfr1328	T	C	4: 118,934,683	D53G	probably damaging	Het
Olfr453	T	A	6: 42,744,076	I13N	probably damaging	Het
Pcdha2	T	C	18: 36,941,323	V669A	probably benign	Het
Pdhx	T	C	2: 103,022,219	N433S	probably damaging	Het
Pip5kl1	A	G	2: 32,579,112	R261G	probably damaging	Het
Plekhj1	A	G	10: 80,797,775	I76T	probably damaging	Het
Ppp1r3a	A	T	6: 14,719,074	S614T	probably damaging	Het
Ptpru	T	C	4: 131,774,304	N1207S	probably damaging	Het
Ranbp2	T	C	10: 58,476,472	F1005L	probably benign	Het
Rims2	A	G	15: 39,437,845	E324G	probably damaging	Het
Sema6d	A	T	2: 124,656,850	I227L	probably benign	Het
Smarcad1	T	G	6: 65,114,336	L1014V	probably damaging	Het
Spag9	T	C	11: 94,044,417	V18A	possibly damaging	Het
Spag9	T	G	11: 94,044,479	S39A	possibly damaging	Het
Sun2	T	C	15: 79,734,155	K268E	probably benign	Het
Tbpl2	C	T	2: 24,087,139	R289Q	probably benign	Het
Tcea3	T	A	4: 136,255,143		probably benign	Het
Tmem185a	C	T	X: 70,462,186		probably null	Het
Tnrc6c	C	T	11: 117,723,529	R838W	probably damaging	Het
Vmn1r212	A	T	13: 22,883,188	V325E	unknown	Het
Vmn1r35	T	A	6: 66,679,073	R204S	probably damaging	Het
Vmn2r57	A	G	7: 41,428,130	M204T	probably damaging	Het
Wdfy3	A	T	5: 101,944,239	Y411*	probably null	Het
Zfp335	G	T	2: 164,910,700	D41E	probably 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
R1983:D630003M21Rik	UTSW	2	158208421	missense	probably benign	0.34
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
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'- AGGAGGCACACTTACCTTCC -3'
(R):5'- AATTCCAGGGCAAAGGCTG -3'

Sequencing Primer
(F):5'- ACCTTCCTTCTGAAACGGTGGAG -3'
(R):5'- GCAAAGGCTGGGATGTGTG -3'

Posted On

2015-04-17