Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01874:D630003M21Rik'

178808

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: 0.063) question?

Stock #

IGL01874

Quality Score

Status

Chromosome

Chromosomal Location

158024453-158071142 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 158046644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 778 (G778C)

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: G778C

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

SMART Domains

Protein: ENSMUSP00000040546
Gene: ENSMUSG00000037813
AA Change: G778C

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: G778C

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

SMART Domains

Protein: ENSMUSP00000099410
Gene: ENSMUSG00000037813
AA Change: G778C

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: G778C

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

SMART Domains

Protein: ENSMUSP00000130623
Gene: ENSMUSG00000037813
AA Change: G778C

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	A	T	13: 70,916,823 (GRCm39)	V723D	possibly damaging	Het
Adgrb1	G	A	15: 74,413,423 (GRCm39)	V536I	possibly damaging	Het
Aox4	T	C	1: 58,291,243 (GRCm39)	L787S	probably damaging	Het
Atp2c1	A	C	9: 105,326,024 (GRCm39)	V293G	probably damaging	Het
Ccnb1	T	C	13: 100,920,001 (GRCm39)	D170G	probably damaging	Het
Cdc42	T	C	4: 137,063,381 (GRCm39)	I4V	probably benign	Het
Clip1	T	C	5: 123,741,729 (GRCm39)	Q1175R	possibly damaging	Het
Cox6a1	A	G	5: 115,483,904 (GRCm39)	*113Q	probably null	Het
Crtc2	C	T	3: 90,165,815 (GRCm39)	P139L	probably damaging	Het
Cyp8b1	A	T	9: 121,744,969 (GRCm39)	M121K	possibly damaging	Het
Dgat1	A	G	15: 76,387,241 (GRCm39)	F349L	probably damaging	Het
Enox1	A	G	14: 77,816,602 (GRCm39)	Y194C	probably damaging	Het
Fam120b	T	A	17: 15,623,301 (GRCm39)	C426*	probably null	Het
Fxyd3	A	G	7: 30,770,318 (GRCm39)		probably benign	Het
Gin1	A	G	1: 97,710,797 (GRCm39)	Y160C	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm11110	T	A	17: 57,399,693 (GRCm39)		probably benign	Het
Gm1818	T	C	12: 48,602,973 (GRCm39)		noncoding transcript	Het
Gucy1a2	T	C	9: 3,797,343 (GRCm39)	S598P	probably damaging	Het
Hook3	T	A	8: 26,529,760 (GRCm39)	N199Y	possibly damaging	Het
Il10ra	A	G	9: 45,178,458 (GRCm39)	L41P	probably damaging	Het
Itgam	C	T	7: 127,714,338 (GRCm39)	T949I	probably damaging	Het
Kctd3	A	G	1: 188,729,188 (GRCm39)	V123A	probably damaging	Het
Krt84	G	A	15: 101,436,239 (GRCm39)	A450V	probably damaging	Het
Lrrc7	G	A	3: 157,946,080 (GRCm39)		probably benign	Het
Nckap1	A	G	2: 80,355,980 (GRCm39)	F608L	probably damaging	Het
Niban2	A	T	2: 32,795,779 (GRCm39)		probably null	Het
Nmbr	A	T	10: 14,642,696 (GRCm39)	Y85F	probably benign	Het
Nol6	A	C	4: 41,115,412 (GRCm39)	L1135R	probably damaging	Het
Ntan1	T	C	16: 13,653,077 (GRCm39)	F278L	probably benign	Het
Or2n1e	T	A	17: 38,586,408 (GRCm39)	S249T	probably benign	Het
Pcsk5	T	A	19: 17,573,041 (GRCm39)	T474S	probably damaging	Het
Pex11b	T	A	3: 96,550,883 (GRCm39)		probably null	Het
Pkhd1	G	T	1: 20,173,459 (GRCm39)	A3786E	probably benign	Het
Prkdc	T	C	16: 15,552,858 (GRCm39)	I2098T	possibly damaging	Het
Prl2c5	T	A	13: 13,365,362 (GRCm39)	S169R	probably benign	Het
Ptbp2	A	G	3: 119,541,449 (GRCm39)	V196A	probably damaging	Het
Rad17	T	C	13: 100,754,192 (GRCm39)		probably benign	Het
Skic2	T	C	17: 35,060,185 (GRCm39)	N114D	probably benign	Het
Slc47a2	T	A	11: 61,203,685 (GRCm39)		probably null	Het
Srcin1	A	T	11: 97,423,924 (GRCm39)	M684K	possibly damaging	Het
Sspo	T	A	6: 48,429,124 (GRCm39)	C298S	probably damaging	Het
Tenm3	G	T	8: 48,689,793 (GRCm39)	Y1915*	probably null	Het
Tnks1bp1	A	G	2: 84,888,791 (GRCm39)	T373A	probably benign	Het
Trp63	A	C	16: 25,701,335 (GRCm39)	N470H	possibly damaging	Het
Ttn	T	C	2: 76,628,907 (GRCm39)	N12703S	probably damaging	Het
Ubr4	T	C	4: 139,120,600 (GRCm39)		probably benign	Het
Vmn2r56	T	A	7: 12,449,602 (GRCm39)	Y212F	probably benign	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
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

2014-05-07