Mutagenetix > Incidental Mutation

Incidental Mutation 'R6548:D630003M21Rik'

521339

Institutional Source

Beutler Lab

Gene Symbol

D630003M21Rik

Ensembl Gene

ENSMUSG00000037813

Gene Name

RIKEN cDNA D630003M21 gene

Synonyms

MMRRC Submission

044673-MU

Accession Numbers

Essential gene?

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

Stock #

R6548 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

158024453-158071142 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 158047619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 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: 99.3%
20x: 97.7%

Validation Efficiency

93% (38/41)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030612E09Rik	T	C	10: 43,050,769 (GRCm39)	L21P	probably damaging	Het
Ank3	C	T	10: 69,728,240 (GRCm39)	A642V	probably damaging	Het
Bap1	A	G	14: 30,978,182 (GRCm39)	N349S	probably benign	Het
Brca1	G	T	11: 101,415,591 (GRCm39)	Q32K	probably damaging	Het
Ccdc39	A	T	3: 33,892,108 (GRCm39)	N121K	probably benign	Het
Champ1	A	T	8: 13,930,002 (GRCm39)	N720I	probably damaging	Het
Chd3	T	A	11: 69,252,886 (GRCm39)	R216*	probably null	Het
Exoc2	A	T	13: 31,010,047 (GRCm39)	V804E	possibly damaging	Het
Fcgbp	A	G	7: 27,791,343 (GRCm39)	N868S	probably benign	Het
Gm10376	T	C	14: 42,873,025 (GRCm39)	M1V	probably null	Het
Gpc2	G	A	5: 138,275,533 (GRCm39)		probably null	Het
Gpr37	G	A	6: 25,688,812 (GRCm39)	T95I	probably benign	Het
Ints3	G	A	3: 90,299,431 (GRCm39)		probably benign	Het
Krt28	T	C	11: 99,257,839 (GRCm39)	E334G	probably damaging	Het
Lrrc75a	T	A	11: 62,496,921 (GRCm39)	T214S	probably damaging	Het
Lyar	A	G	5: 38,385,202 (GRCm39)	I81V	probably benign	Het
Mon2	A	T	10: 122,871,998 (GRCm39)	L342Q	probably damaging	Het
Mug2	C	T	6: 122,024,401 (GRCm39)	A491V	probably damaging	Het
Myh2	A	G	11: 67,077,438 (GRCm39)	T858A	probably benign	Het
Net1	C	T	13: 3,936,074 (GRCm39)		probably null	Het
Or52s1	T	A	7: 102,861,111 (GRCm39)	Y4N	probably benign	Het
Or5p76	T	C	7: 108,122,423 (GRCm39)	T245A	probably benign	Het
Platr25	A	T	13: 62,821,623 (GRCm39)	I110N	possibly damaging	Het
Plk5	T	A	10: 80,198,879 (GRCm39)	L412H	probably damaging	Het
Rasal1	A	T	5: 120,812,790 (GRCm39)	T605S	probably benign	Het
Ryr2	T	A	13: 11,683,707 (GRCm39)	D3119V	probably damaging	Het
Serpina1a	G	T	12: 103,820,017 (GRCm39)	H387N	probably benign	Het
Serpina1d	G	T	12: 103,733,811 (GRCm39)	N164K	probably damaging	Het
Smurf1	A	G	5: 144,836,307 (GRCm39)	Y69H	probably damaging	Het
Sod2	A	G	17: 13,227,250 (GRCm39)	K68R	probably benign	Het
Ssbp2	A	G	13: 91,687,470 (GRCm39)	N51S	possibly damaging	Het
Tcl1b1	A	G	12: 105,130,663 (GRCm39)	R49G	probably benign	Het
Tgfb1	A	G	7: 25,396,350 (GRCm39)	I214M	probably benign	Het
Tln1	A	G	4: 43,547,525 (GRCm39)	I812T	probably damaging	Het
Topaz1	T	A	9: 122,577,419 (GRCm39)	C110S	possibly damaging	Het
Ubap2l	A	G	3: 89,930,867 (GRCm39)	F393L	probably damaging	Het
Vmn1r62	G	A	7: 5,678,769 (GRCm39)	G150D	probably damaging	Het
Wdr24	C	A	17: 26,046,899 (GRCm39)	Q651K	probably damaging	Het
Wdr7	A	G	18: 63,911,322 (GRCm39)	T905A	possibly damaging	Het
Zfyve26	A	G	12: 79,285,109 (GRCm39)	F2382S	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACAGACAGGCAAGCCAGTTC -3'
(R):5'- AGCTCTCCTGATGGTTCTGATGTAG -3'

Sequencing Primer
(F):5'- AGGCAAGCCAGTTCCTCAG -3'
(R):5'- ATGTAGTGTAAGCCTGGTCCC -3'

Posted On

2018-06-06