Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01447:D630003M21Rik'

84474

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: 0.060) question?

Stock #

IGL01447

Quality Score

Status

Chromosome

Chromosomal Location

158024453-158071142 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 158059276 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 208 (D208G)

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 benign
Transcript: ENSMUST00000046944
AA Change: D208G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000040546
Gene: ENSMUSG00000037813
AA Change: D208G

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: D208G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099410
Gene: ENSMUSG00000037813
AA Change: D208G

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: D208G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130623
Gene: ENSMUSG00000037813
AA Change: D208G

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apbb1ip	T	G	2: 22,743,194 (GRCm39)	I342S	probably damaging	Het
Armh4	A	T	14: 50,005,923 (GRCm39)	S591T	probably damaging	Het
Atp6v1e1	T	C	6: 120,772,654 (GRCm39)		probably benign	Het
Brwd1	A	T	16: 95,848,579 (GRCm39)	C533*	probably null	Het
Cacna2d4	A	G	6: 119,219,865 (GRCm39)	S212G	probably damaging	Het
Ccn5	A	G	2: 163,670,942 (GRCm39)	R150G	probably damaging	Het
Cit	T	C	5: 116,011,902 (GRCm39)		probably benign	Het
Clca3a1	C	T	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Cmklr1	T	C	5: 113,752,282 (GRCm39)	T240A	probably benign	Het
Egr3	C	A	14: 70,316,732 (GRCm39)	P143Q	probably damaging	Het
Fbxw18	T	A	9: 109,530,675 (GRCm39)	S41C	probably damaging	Het
Focad	T	A	4: 88,244,465 (GRCm39)	I815N	unknown	Het
Heatr5b	T	C	17: 79,137,026 (GRCm39)	T165A	probably benign	Het
Iqub	G	T	6: 24,505,627 (GRCm39)	L94I	probably benign	Het
Lrrc32	T	C	7: 98,147,583 (GRCm39)	L121P	probably damaging	Het
Mansc1	G	A	6: 134,594,289 (GRCm39)	L118F	probably damaging	Het
Mtor	A	G	4: 148,615,214 (GRCm39)	H1693R	possibly damaging	Het
Muc5b	A	G	7: 141,416,831 (GRCm39)	Q3259R	probably benign	Het
Nmnat2	A	G	1: 152,988,189 (GRCm39)	S273G	possibly damaging	Het
Npr2	T	C	4: 43,640,554 (GRCm39)	C336R	possibly damaging	Het
Or10al6	C	T	17: 38,083,122 (GRCm39)	L193F	probably damaging	Het
Or1f19	A	G	16: 3,410,848 (GRCm39)	N196S	possibly damaging	Het
Or1j11	A	T	2: 36,311,466 (GRCm39)	I19F	probably damaging	Het
Or56b1b	A	G	7: 108,164,216 (GRCm39)	V262A	possibly damaging	Het
Or5aq1	A	T	2: 86,966,343 (GRCm39)	Y107*	probably null	Het
Or5d36	T	C	2: 87,901,468 (GRCm39)	N86S	possibly damaging	Het
Rad54l2	C	T	9: 106,579,971 (GRCm39)	A967T	probably damaging	Het
Rspo1	T	C	4: 124,898,829 (GRCm39)	V50A	possibly damaging	Het
Sar1b	C	T	11: 51,682,274 (GRCm39)		probably benign	Het
Scamp1	C	T	13: 94,340,530 (GRCm39)	A280T	probably damaging	Het
Spcs2	A	G	7: 99,488,911 (GRCm39)	I251T	probably benign	Het
Sspo	G	T	6: 48,441,600 (GRCm39)		probably null	Het
Tpm2	T	A	4: 43,518,251 (GRCm39)	K251*	probably null	Het
Ttn	A	G	2: 76,571,250 (GRCm39)	S26548P	probably damaging	Het
Ugcg	T	G	4: 59,213,865 (GRCm39)	V149G	possibly damaging	Het
Unc79	T	A	12: 103,045,177 (GRCm39)	N784K	probably damaging	Het
Vit	A	G	17: 78,932,633 (GRCm39)	D580G	probably damaging	Het
Vmn1r83	T	C	7: 12,055,424 (GRCm39)	K211R	probably benign	Het
Zbtb3	A	G	19: 8,781,680 (GRCm39)	Y431C	probably damaging	Het
Zfp608	T	C	18: 55,032,083 (GRCm39)	D619G	possibly 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
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
IGL02644:D630003M21Rik	APN	2	158,058,730 (GRCm39)	missense	possibly damaging	0.87
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

2013-11-11