Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02644:D630003M21Rik'

301873

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

D630003M21Rik

Ensembl Gene

ENSMUSG00000037813

Gene Name

RIKEN cDNA D630003M21 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL02644

Quality Score

Status

Chromosome

Chromosomal Location

158024453-158071142 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 158058730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 390 (D390V)

Ref Sequence

ENSEMBL: ENSMUSP00000130623 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046944
AA Change: D390V

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000040546
Gene: ENSMUSG00000037813
AA Change: D390V

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

possibly damaging
Transcript: ENSMUST00000103121
AA Change: D390V

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099410
Gene: ENSMUSG00000037813
AA Change: D390V

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

possibly damaging
Transcript: ENSMUST00000169335
AA Change: D390V

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130623
Gene: ENSMUSG00000037813
AA Change: D390V

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	A	T	3: 151,198,007 (GRCm39)	Y89F	probably benign	Het
Agl	A	G	3: 116,580,246 (GRCm39)	Y406H	probably damaging	Het
Ankhd1	G	A	18: 36,711,828 (GRCm39)		probably null	Het
Ankmy1	T	C	1: 92,812,776 (GRCm39)	D511G	probably benign	Het
Arid2	T	C	15: 96,266,589 (GRCm39)	Y546H	probably damaging	Het
Asap1	G	T	15: 63,982,911 (GRCm39)	P806T	probably damaging	Het
Aspa	T	A	11: 73,212,992 (GRCm39)	T117S	probably damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Bspry	A	T	4: 62,414,565 (GRCm39)	H386L	probably damaging	Het
C1qc	T	C	4: 136,617,629 (GRCm39)	T156A	possibly damaging	Het
Cfhr4	A	G	1: 139,708,905 (GRCm39)	M1T	probably null	Het
Copz2	A	T	11: 96,744,257 (GRCm39)		probably benign	Het
Cybb	A	G	X: 9,333,395 (GRCm39)	V23A	probably benign	Het
Dennd10	T	A	19: 60,810,741 (GRCm39)	S43T	possibly damaging	Het
Dpy19l2	G	T	9: 24,569,888 (GRCm39)	P355Q	probably damaging	Het
Gcn1	A	T	5: 115,713,250 (GRCm39)	Q71L	probably benign	Het
Gpd1l	T	C	9: 114,732,725 (GRCm39)		probably null	Het
Hydin	A	G	8: 111,265,100 (GRCm39)	D2761G	probably damaging	Het
Ifi202b	T	A	1: 173,799,280 (GRCm39)	H256L	probably benign	Het
Igkv8-24	T	C	6: 70,193,872 (GRCm39)	Y112C	probably damaging	Het
Lama3	G	A	18: 12,658,910 (GRCm39)	R2022Q	probably benign	Het
Mroh4	T	A	15: 74,482,224 (GRCm39)	R675S	possibly damaging	Het
Mtf1	T	G	4: 124,714,028 (GRCm39)	C146G	probably damaging	Het
Nubpl	A	G	12: 52,317,841 (GRCm39)	D178G	probably damaging	Het
Or7e165	A	C	9: 19,695,010 (GRCm39)	I194L	probably benign	Het
Pam16	A	G	16: 4,434,697 (GRCm39)	S91P	probably damaging	Het
Pcdhac2	A	G	18: 37,278,232 (GRCm39)	E404G	probably benign	Het
Pde7a	C	A	3: 19,311,031 (GRCm39)		probably benign	Het
Perm1	G	T	4: 156,303,043 (GRCm39)	G529V	probably damaging	Het
Pik3c2a	T	C	7: 115,972,049 (GRCm39)	T794A	probably benign	Het
Ppfibp1	A	G	6: 146,923,938 (GRCm39)	Y722C	probably damaging	Het
Ppm1m	A	T	9: 106,074,082 (GRCm39)	I241N	probably damaging	Het
Psd	T	C	19: 46,311,834 (GRCm39)	Y282C	probably damaging	Het
Rpl27	T	A	11: 101,336,317 (GRCm39)		probably benign	Het
Scaf1	A	G	7: 44,655,357 (GRCm39)		probably benign	Het
Sec14l2	A	T	11: 4,053,380 (GRCm39)		probably benign	Het
Smchd1	T	A	17: 71,667,016 (GRCm39)		probably benign	Het
Sptb	A	T	12: 76,652,391 (GRCm39)	D1615E	probably damaging	Het
Stt3a	A	C	9: 36,663,649 (GRCm39)	C198G	possibly damaging	Het
Tas2r144	T	C	6: 42,192,787 (GRCm39)	S176P	possibly damaging	Het
Tlr13	A	G	X: 105,200,503 (GRCm39)	D80G	probably benign	Het
Tmco4	A	G	4: 138,737,920 (GRCm39)		probably benign	Het
Tnpo2	T	A	8: 85,771,109 (GRCm39)	C132S	possibly damaging	Het
Tubgcp3	T	C	8: 12,698,733 (GRCm39)	D406G	probably damaging	Het
Vmn2r125	G	A	4: 156,703,294 (GRCm39)	R224Q	probably benign	Het
Zfp524	C	A	7: 5,020,479 (GRCm39)	D2E	probably damaging	Het

Other mutations in D630003M21Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00905:D630003M21Rik	APN	2	158,055,332 (GRCm39)	missense	possibly damaging	0.92
IGL01447:D630003M21Rik	APN	2	158,059,276 (GRCm39)	missense	probably benign
IGL01501:D630003M21Rik	APN	2	158,042,987 (GRCm39)	missense	probably benign	0.03
IGL01874:D630003M21Rik	APN	2	158,046,644 (GRCm39)	missense	probably damaging	1.00
IGL02116:D630003M21Rik	APN	2	158,045,130 (GRCm39)	missense	possibly damaging	0.76
IGL02212:D630003M21Rik	APN	2	158,052,091 (GRCm39)	missense	probably benign	0.02
IGL02477:D630003M21Rik	APN	2	158,059,408 (GRCm39)	missense	probably benign	0.44
IGL02861:D630003M21Rik	APN	2	158,042,918 (GRCm39)	missense	probably benign	0.03
IGL02896:D630003M21Rik	APN	2	158,059,205 (GRCm39)	missense	probably benign	0.00
IGL03089:D630003M21Rik	APN	2	158,058,664 (GRCm39)	missense	probably benign
IGL03148:D630003M21Rik	APN	2	158,059,144 (GRCm39)	missense	probably damaging	1.00
ANU05:D630003M21Rik	UTSW	2	158,038,308 (GRCm39)	missense	probably benign	0.00
ANU18:D630003M21Rik	UTSW	2	158,059,568 (GRCm39)	missense	probably benign
F5770:D630003M21Rik	UTSW	2	158,042,931 (GRCm39)	missense	probably benign	0.38
R0113:D630003M21Rik	UTSW	2	158,038,495 (GRCm39)	missense	possibly damaging	0.92
R0147:D630003M21Rik	UTSW	2	158,044,987 (GRCm39)	splice site	probably benign
R0513:D630003M21Rik	UTSW	2	158,042,228 (GRCm39)	missense	probably benign	0.44
R0637:D630003M21Rik	UTSW	2	158,037,327 (GRCm39)	intron	probably benign
R1594:D630003M21Rik	UTSW	2	158,053,550 (GRCm39)	missense	probably damaging	1.00
R1774:D630003M21Rik	UTSW	2	158,062,390 (GRCm39)	missense	probably damaging	1.00
R1823:D630003M21Rik	UTSW	2	158,059,477 (GRCm39)	missense	probably damaging	1.00
R1864:D630003M21Rik	UTSW	2	158,045,105 (GRCm39)	missense	probably damaging	1.00
R1983:D630003M21Rik	UTSW	2	158,050,341 (GRCm39)	missense	probably benign	0.34
R2042:D630003M21Rik	UTSW	2	158,057,769 (GRCm39)	missense	probably damaging	1.00
R2259:D630003M21Rik	UTSW	2	158,046,631 (GRCm39)	missense	probably damaging	1.00
R2350:D630003M21Rik	UTSW	2	158,042,931 (GRCm39)	missense	probably damaging	0.96
R3157:D630003M21Rik	UTSW	2	158,037,392 (GRCm39)	intron	probably benign
R3937:D630003M21Rik	UTSW	2	158,042,280 (GRCm39)	missense	probably damaging	1.00
R4124:D630003M21Rik	UTSW	2	158,038,513 (GRCm39)	missense	probably damaging	0.97
R4437:D630003M21Rik	UTSW	2	158,055,382 (GRCm39)	missense	probably damaging	1.00
R4473:D630003M21Rik	UTSW	2	158,055,382 (GRCm39)	missense	probably damaging	1.00
R4513:D630003M21Rik	UTSW	2	158,046,722 (GRCm39)	missense	probably benign	0.01
R4514:D630003M21Rik	UTSW	2	158,046,722 (GRCm39)	missense	probably benign	0.01
R4729:D630003M21Rik	UTSW	2	158,058,623 (GRCm39)	missense	probably damaging	1.00
R4794:D630003M21Rik	UTSW	2	158,038,059 (GRCm39)	missense	probably benign
R4947:D630003M21Rik	UTSW	2	158,028,116 (GRCm39)	missense	unknown
R5005:D630003M21Rik	UTSW	2	158,053,563 (GRCm39)	missense	possibly damaging	0.87
R5022:D630003M21Rik	UTSW	2	158,059,553 (GRCm39)	missense	probably damaging	0.99
R5167:D630003M21Rik	UTSW	2	158,047,665 (GRCm39)	missense	probably damaging	1.00
R5191:D630003M21Rik	UTSW	2	158,042,955 (GRCm39)	missense	probably benign	0.06
R5488:D630003M21Rik	UTSW	2	158,058,941 (GRCm39)	missense	probably benign	0.15
R5489:D630003M21Rik	UTSW	2	158,058,941 (GRCm39)	missense	probably benign	0.15
R5495:D630003M21Rik	UTSW	2	158,062,431 (GRCm39)	missense	possibly damaging	0.69
R5708:D630003M21Rik	UTSW	2	158,062,312 (GRCm39)	splice site	probably null
R5770:D630003M21Rik	UTSW	2	158,037,500 (GRCm39)	intron	probably benign
R5789:D630003M21Rik	UTSW	2	158,058,734 (GRCm39)	missense	possibly damaging	0.63
R5817:D630003M21Rik	UTSW	2	158,038,413 (GRCm39)	missense	probably damaging	1.00
R5898:D630003M21Rik	UTSW	2	158,046,577 (GRCm39)	splice site	probably null
R5969:D630003M21Rik	UTSW	2	158,059,628 (GRCm39)	missense	probably damaging	1.00
R6084:D630003M21Rik	UTSW	2	158,059,504 (GRCm39)	missense	probably damaging	0.99
R6111:D630003M21Rik	UTSW	2	158,055,368 (GRCm39)	missense	probably damaging	1.00
R6225:D630003M21Rik	UTSW	2	158,059,321 (GRCm39)	missense	probably benign	0.23
R6307:D630003M21Rik	UTSW	2	158,057,871 (GRCm39)	missense	probably benign	0.34
R6350:D630003M21Rik	UTSW	2	158,062,415 (GRCm39)	missense	probably damaging	1.00
R6548:D630003M21Rik	UTSW	2	158,047,619 (GRCm39)	critical splice donor site	probably null
R6583:D630003M21Rik	UTSW	2	158,062,436 (GRCm39)	missense	probably damaging	0.98
R6821:D630003M21Rik	UTSW	2	158,046,694 (GRCm39)	missense	probably damaging	1.00
R6963:D630003M21Rik	UTSW	2	158,042,228 (GRCm39)	missense	probably benign	0.44
R7021:D630003M21Rik	UTSW	2	158,058,670 (GRCm39)	missense	possibly damaging	0.59
R7210:D630003M21Rik	UTSW	2	158,057,932 (GRCm39)	critical splice acceptor site	probably null
R7345:D630003M21Rik	UTSW	2	158,059,129 (GRCm39)	missense	probably damaging	1.00
R7355:D630003M21Rik	UTSW	2	158,042,144 (GRCm39)	missense	probably damaging	1.00
R7514:D630003M21Rik	UTSW	2	158,059,273 (GRCm39)	missense	probably damaging	1.00
R7587:D630003M21Rik	UTSW	2	158,042,976 (GRCm39)	missense	probably damaging	1.00
R7587:D630003M21Rik	UTSW	2	158,038,308 (GRCm39)	missense	probably benign	0.00
R7713:D630003M21Rik	UTSW	2	158,058,698 (GRCm39)	nonsense	probably null
R7792:D630003M21Rik	UTSW	2	158,052,082 (GRCm39)	missense	possibly damaging	0.94
R7819:D630003M21Rik	UTSW	2	158,058,718 (GRCm39)	missense	probably damaging	0.97
R7832:D630003M21Rik	UTSW	2	158,059,588 (GRCm39)	missense	probably damaging	1.00
R8115:D630003M21Rik	UTSW	2	158,058,510 (GRCm39)	missense	probably benign	0.23
R8482:D630003M21Rik	UTSW	2	158,058,852 (GRCm39)	missense	probably benign	0.01
R8829:D630003M21Rik	UTSW	2	158,058,856 (GRCm39)	missense	probably damaging	0.98
R8928:D630003M21Rik	UTSW	2	158,059,447 (GRCm39)	missense	probably damaging	1.00
R9183:D630003M21Rik	UTSW	2	158,059,112 (GRCm39)	missense	probably benign	0.00
R9254:D630003M21Rik	UTSW	2	158,042,883 (GRCm39)	missense	probably damaging	1.00
R9661:D630003M21Rik	UTSW	2	158,047,673 (GRCm39)	missense	possibly damaging	0.72
V7580:D630003M21Rik	UTSW	2	158,042,931 (GRCm39)	missense	probably benign	0.38
V7581:D630003M21Rik	UTSW	2	158,042,931 (GRCm39)	missense	probably benign	0.38
V7583:D630003M21Rik	UTSW	2	158,042,931 (GRCm39)	missense	probably benign	0.38

Posted On

2015-04-16