Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03148:D630003M21Rik'

410970

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: 0.071) question?

Stock #

IGL03148

Quality Score

Status

Chromosome

Chromosomal Location

158182533-158229222 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 158217224 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 252 (E252G)

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: E252G

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

SMART Domains

Protein: ENSMUSP00000040546
Gene: ENSMUSG00000037813
AA Change: E252G

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: E252G

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

SMART Domains

Protein: ENSMUSP00000099410
Gene: ENSMUSG00000037813
AA Change: E252G

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 damaging
Transcript: ENSMUST00000169335
AA Change: E252G

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

SMART Domains

Protein: ENSMUSP00000130623
Gene: ENSMUSG00000037813
AA Change: E252G

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	G	11: 99,837,253	S255P	unknown	Het
Adamtsl2	T	A	2: 27,084,059	Y125N	probably damaging	Het
Ankrd9	T	C	12: 110,976,859	E214G	probably benign	Het
Bhmt2	T	A	13: 93,666,653	D124V	possibly damaging	Het
Ccdc150	A	G	1: 54,278,715	H271R	possibly damaging	Het
Clcn1	T	G	6: 42,299,991		probably null	Het
Col6a3	T	A	1: 90,827,866	I234F	probably benign	Het
Cpa5	T	A	6: 30,630,437	M330K	probably damaging	Het
Csmd2	G	A	4: 128,384,269	C995Y	probably damaging	Het
Dhrs1	A	T	14: 55,741,291	Y133*	probably null	Het
Dock10	T	C	1: 80,540,358	I1300V	probably benign	Het
Efcab12	T	C	6: 115,810,991	Y670C	probably damaging	Het
Frg1	T	G	8: 41,411,284	K66N	probably benign	Het
Gbp2b	C	A	3: 142,606,881	H342N	probably benign	Het
Gm3259	A	G	5: 95,341,318	T207A	possibly damaging	Het
Gria4	T	A	9: 4,464,295	I556F	possibly damaging	Het
Kcnh1	T	G	1: 192,276,999	I287S	probably damaging	Het
Map1b	A	G	13: 99,441,695	L150P	probably damaging	Het
Map3k4	C	T	17: 12,238,158	R1299Q	probably benign	Het
Mapk10	T	C	5: 102,926,105	N407D	probably damaging	Het
Mcemp1	T	A	8: 3,667,390		probably null	Het
Nav1	A	C	1: 135,470,024	N802K	possibly damaging	Het
Pcdhb2	T	A	18: 37,296,778	N601K	probably damaging	Het
Pi4ka	T	A	16: 17,354,189	H564L	probably damaging	Het
Pnp	T	A	14: 50,950,728		probably benign	Het
Ppp2r2a	G	T	14: 67,022,295	N317K	probably benign	Het
Rars2	A	T	4: 34,650,243	I343F	possibly damaging	Het
Rnf213	T	C	11: 119,465,007	F4092S	probably damaging	Het
Tcp11	A	G	17: 28,070,470	V209A	possibly damaging	Het
Tet2	T	C	3: 133,481,363	S1102G	probably benign	Het
Wdr92	G	A	11: 17,229,845	G282E	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
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
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

Posted On

2016-08-02