Mutagenetix > Incidental Mutation

Incidental Mutation 'R7210:D630003M21Rik'

560979

Institutional Source

Beutler Lab

Gene Symbol

D630003M21Rik

Ensembl Gene

ENSMUSG00000037813

Gene Name

RIKEN cDNA D630003M21 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R7210 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

158182533-158229222 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 158216012 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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 null
Transcript: ENSMUST00000046944

SMART Domains

Protein: ENSMUSP00000040546
Gene: ENSMUSG00000037813

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 null
Transcript: ENSMUST00000103121

SMART Domains

Protein: ENSMUSP00000099410
Gene: ENSMUSG00000037813

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 null
Transcript: ENSMUST00000169335

SMART Domains

Protein: ENSMUSP00000130623
Gene: ENSMUSG00000037813

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	G	A	11: 94,373,941	P194S	probably benign	Het
Ackr2	C	T	9: 121,908,877	A106V	possibly damaging	Het
Alg3	G	A	16: 20,605,894	P112L	unknown	Het
Areg	T	A	5: 91,140,905	Y23*	probably null	Het
Aspn	A	G	13: 49,566,491	T328A	probably benign	Het
B020011L13Rik	A	T	1: 117,801,511	E249D	possibly damaging	Het
Bptf	G	A	11: 107,054,464	Q2650*	probably null	Het
Btbd3	A	T	2: 138,283,744	R283W	probably damaging	Het
Cep131	T	C	11: 120,064,789	H1035R	probably damaging	Het
Cfap57	A	T	4: 118,576,703	Y959*	probably null	Het
Cnot1	T	C	8: 95,788,658	Y25C	probably damaging	Het
Crebbp	G	A	16: 4,084,257	H2373Y	possibly damaging	Het
Ctnna3	T	C	10: 64,250,768	L373P	probably damaging	Het
Cyp8b1	T	A	9: 121,915,180	D362V	probably damaging	Het
D430042O09Rik	T	C	7: 125,872,239	V1504A	probably damaging	Het
Dpp6	T	C	5: 27,598,803	I249T	probably damaging	Het
Fam149b	T	G	14: 20,378,472	I475M	probably damaging	Het
Fat1	A	G	8: 45,023,503	Y1862C	probably damaging	Het
Fcrl5	A	T	3: 87,446,412	N355Y	possibly damaging	Het
Fgd6	C	T	10: 94,134,092	T1201I	probably damaging	Het
Fndc8	A	T	11: 82,897,866	D174V	probably damaging	Het
Gatb	A	G	3: 85,574,220	H26R	probably benign	Het
Gm37240	T	A	3: 84,497,807	T230S	probably benign	Het
Gria4	T	C	9: 4,464,135	Q609R	probably damaging	Het
Gse1	C	A	8: 120,230,702	T644K	unknown	Het
Ifit1bl1	T	G	19: 34,594,164	I298L	probably benign	Het
Il31ra	T	C	13: 112,549,500	D85G	possibly damaging	Het
Lyst	T	C	13: 13,656,983	L1664P	probably damaging	Het
Mrpl35	A	G	6: 71,817,738	L82S	possibly damaging	Het
Myo7b	G	A	18: 32,007,102	R212C	probably damaging	Het
Myom2	T	C	8: 15,104,114	V684A	probably damaging	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nop58	G	T	1: 59,710,380		probably null	Het
Nudt13	T	A	14: 20,309,784	I193N	possibly damaging	Het
Nyap1	C	A	5: 137,737,982	R81L	probably damaging	Het
Olfr388-ps1	T	C	11: 73,724,873	I50M	possibly damaging	Het
Oxct2b	A	C	4: 123,116,276		probably benign	Het
Pcf11	C	T	7: 92,663,476	A230T	probably benign	Het
Phactr4	A	T	4: 132,358,271	*695R	probably null	Het
Pkd1	T	C	17: 24,575,866	S2176P	probably damaging	Het
Plch2	C	A	4: 155,009,086	R133L	probably damaging	Het
Ptprq	G	T	10: 107,685,171	N713K	probably damaging	Het
Ptrh2	A	T	11: 86,689,967	T137S	probably benign	Het
R3hdm1	A	G	1: 128,211,208	Y718C	possibly damaging	Het
Rftn1	T	A	17: 49,994,307	R505*	probably null	Het
Rps15a	A	G	7: 118,109,111	F128L	probably benign	Het
Slc25a25	A	T	2: 32,420,396	M177K	possibly damaging	Het
Smgc	C	A	15: 91,860,294	P631Q	probably damaging	Het
Sox2	T	C	3: 34,651,157	S248P	probably damaging	Het
Sycp1	T	C	3: 102,853,492	K702E	probably damaging	Het
Tes	G	T	6: 17,104,762	C414F	probably damaging	Het
Tet1	A	T	10: 62,814,501	C14S	probably null	Het
Tle3	C	T	9: 61,412,305	P452S	probably damaging	Het
Tmc6	A	C	11: 117,775,844	L131R	possibly damaging	Het
Tnip3	C	T	6: 65,593,511	R30*	probably null	Het
Tnrc6b	G	T	15: 80,929,285	G1748W	probably damaging	Het
Ugt2b38	T	G	5: 87,410,425	D459A	probably damaging	Het
Zdhhc2	A	T	8: 40,467,439	R246S	probably damaging	Het
Zscan22	T	A	7: 12,906,821	C331S	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
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
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'- TATCCCGGACTGGAGAAGCTTG -3'
(R):5'- TCCAGCTGAGCAATACTACTGG -3'

Sequencing Primer
(F):5'- AAGCTTGACTCCCAGGGTCTC -3'
(R):5'- ACCTTGGCCAGACGTTTAG -3'

Posted On

2019-06-26