Mutagenetix > Incidental Mutation

Incidental Mutation 'R5495:D630003M21Rik'

432275

Institutional Source

Beutler Lab

Gene Symbol

D630003M21Rik

Ensembl Gene

ENSMUSG00000037813

Gene Name

RIKEN cDNA D630003M21 gene

Synonyms

MMRRC Submission

043056-MU

Accession Numbers

Essential gene?

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

Stock #

R5495 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

158024453-158071142 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 158062431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 30 (G30S)

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: G30S

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000040546
Gene: ENSMUSG00000037813
AA Change: G30S

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: G30S

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099410
Gene: ENSMUSG00000037813
AA Change: G30S

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: G30S

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000130623
Gene: ENSMUSG00000037813
AA Change: G30S

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: 98.4%
3x: 97.3%
10x: 95.3%
20x: 91.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt2	T	C	7: 27,335,594 (GRCm39)		probably null	Het
Arhgap29	T	G	3: 121,808,578 (GRCm39)	M844R	probably damaging	Het
Atp1a1	T	G	3: 101,498,741 (GRCm39)	D184A	probably benign	Het
Bcl11a	T	A	11: 24,115,042 (GRCm39)	V795E	possibly damaging	Het
Casp12	T	A	9: 5,353,797 (GRCm39)	I277N	possibly damaging	Het
Ccdc59	A	G	10: 105,681,239 (GRCm39)	K164E	probably damaging	Het
Dgkd	A	G	1: 87,854,594 (GRCm39)	D632G	probably damaging	Het
Efr3a	A	G	15: 65,687,258 (GRCm39)	K56E	possibly damaging	Het
Egflam	T	A	15: 7,280,722 (GRCm39)	R434S	probably damaging	Het
Fancl	C	G	11: 26,347,801 (GRCm39)	A51G	probably damaging	Het
Fkbp7	T	C	2: 76,493,638 (GRCm39)	Y185C	probably damaging	Het
Galc	A	G	12: 98,197,673 (GRCm39)		probably null	Het
Galnt15	A	G	14: 31,751,774 (GRCm39)	S109G	probably damaging	Het
Gramd2b	T	C	18: 56,615,694 (GRCm39)	I163T	probably damaging	Het
Impa1	A	G	3: 10,391,230 (GRCm39)	V80A	probably benign	Het
Itga10	T	C	3: 96,554,687 (GRCm39)	M56T	possibly damaging	Het
Larp1b	G	T	3: 40,990,257 (GRCm39)	R135I	probably damaging	Het
Lgals12	C	T	19: 7,581,495 (GRCm39)	A71T	probably damaging	Het
Lmbr1	A	T	5: 29,551,851 (GRCm39)	L78*	probably null	Het
Lrat	C	A	3: 82,804,289 (GRCm39)	M229I	probably benign	Het
Mug2	A	T	6: 122,056,609 (GRCm39)	M1185L	probably damaging	Het
Naprt	T	C	15: 75,765,696 (GRCm39)		probably null	Het
Nfat5	A	G	8: 108,095,079 (GRCm39)	I1107V	probably benign	Het
Nr4a2	T	C	2: 57,002,387 (GRCm39)	Y22C	probably damaging	Het
Ogfod1	C	A	8: 94,790,906 (GRCm39)	Q526K	probably benign	Het
Or2d4	C	A	7: 106,543,699 (GRCm39)	G170*	probably null	Het
Or3a10	G	A	11: 73,935,611 (GRCm39)	T163I	probably damaging	Het
Or4p21	T	C	2: 88,276,401 (GRCm39)	T294A	probably benign	Het
Or8g36	T	C	9: 39,422,441 (GRCm39)	T192A	probably benign	Het
Parp10	T	G	15: 76,127,366 (GRCm39)	I24L	probably benign	Het
Pcdha11	A	G	18: 37,144,079 (GRCm39)	T57A	probably benign	Het
Prdm8	A	G	5: 98,333,165 (GRCm39)	E244G	possibly damaging	Het
Prl6a1	T	C	13: 27,496,654 (GRCm39)	S3P	possibly damaging	Het
Rab11fip3	T	A	17: 26,235,117 (GRCm39)	T18S	probably damaging	Het
Rfc4	T	C	16: 22,941,004 (GRCm39)		probably benign	Het
Rubcnl	G	T	14: 75,279,777 (GRCm39)	V387F	possibly damaging	Het
S100a7l2	A	T	3: 90,997,602 (GRCm39)	L38M	possibly damaging	Het
Serpinb12	T	C	1: 106,884,151 (GRCm39)	L299P	probably damaging	Het
Sptbn5	G	A	2: 119,876,965 (GRCm39)		probably benign	Het
Taar4	A	T	10: 23,837,181 (GRCm39)	I264F	possibly damaging	Het
Tdpoz4	A	T	3: 93,704,806 (GRCm39)	T368S	probably benign	Het
Thsd7b	T	A	1: 129,523,570 (GRCm39)	H124Q	probably damaging	Het
Ugt1a6a	A	T	1: 88,066,746 (GRCm39)	Q184L	probably benign	Het
Vnn1	T	A	10: 23,774,462 (GRCm39)	F168L	probably damaging	Het
Zan	A	G	5: 137,468,670 (GRCm39)	L267P	probably damaging	Het
Zswim8	A	G	14: 20,772,354 (GRCm39)	S1621G	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
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

Predicted Primers

PCR Primer
(F):5'- AGCCACCATATTTCTTGTGGGG -3'
(R):5'- AAGTTCCTGAGGTAGGCTGG -3'

Sequencing Primer
(F):5'- ACCATATTTCTTGTGGGGGAGACAC -3'
(R):5'- GGGTGAAGTGAGGGTCTGAAGATC -3'

Posted On

2016-10-05