Mutagenetix > Incidental Mutation

Incidental Mutation 'R5468:1700008O03Rik'

433338

Institutional Source

Beutler Lab

Gene Symbol

1700008O03Rik

Ensembl Gene

ENSMUSG00000008028

Gene Name

RIKEN cDNA 1700008O03 gene

Synonyms

MMRRC Submission

043029-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R5468 (G1)

Quality Score

178

Status

Not validated

Chromosome

Chromosomal Location

44009467-44035116 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44009659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 181 (R181Q)

Ref Sequence

ENSEMBL: ENSMUSP00000103566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107933] [ENSMUST00000107934] [ENSMUST00000107935] [ENSMUST00000107938] [ENSMUST00000150886]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000107933
AA Change: R181Q

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103566
Gene: ENSMUSG00000008028
AA Change: R181Q

Domain	Start	End	E-Value	Type
Pfam:DUF4732	23	179	4e-83	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107934

SMART Domains

Protein: ENSMUSP00000103567
Gene: ENSMUSG00000038738

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
ANK	212	242	5.75e-1	SMART
ANK	246	275	3.6e-2	SMART
ANK	279	309	3.44e1	SMART
ANK	313	342	1.97e1	SMART
ANK	346	375	3.97e-4	SMART
ANK	379	407	5.69e2	SMART
low complexity region	452	479	N/A	INTRINSIC
low complexity region	487	504	N/A	INTRINSIC
low complexity region	521	548	N/A	INTRINSIC
SH3	557	612	3.73e-16	SMART
PDZ	663	752	2.12e-13	SMART
Blast:PDZ	795	830	5e-11	BLAST
low complexity region	920	941	N/A	INTRINSIC
low complexity region	955	982	N/A	INTRINSIC
low complexity region	993	1023	N/A	INTRINSIC
low complexity region	1051	1080	N/A	INTRINSIC
low complexity region	1123	1138	N/A	INTRINSIC
low complexity region	1162	1175	N/A	INTRINSIC
low complexity region	1179	1220	N/A	INTRINSIC
low complexity region	1256	1275	N/A	INTRINSIC
low complexity region	1298	1323	N/A	INTRINSIC
low complexity region	1348	1359	N/A	INTRINSIC
low complexity region	1369	1404	N/A	INTRINSIC
low complexity region	1450	1466	N/A	INTRINSIC
low complexity region	1512	1532	N/A	INTRINSIC
low complexity region	1539	1555	N/A	INTRINSIC
low complexity region	1557	1570	N/A	INTRINSIC
low complexity region	1580	1614	N/A	INTRINSIC
low complexity region	1633	1667	N/A	INTRINSIC
low complexity region	1685	1720	N/A	INTRINSIC
low complexity region	1735	1746	N/A	INTRINSIC
low complexity region	1776	1787	N/A	INTRINSIC
low complexity region	1806	1823	N/A	INTRINSIC
low complexity region	1834	1852	N/A	INTRINSIC
low complexity region	1893	1907	N/A	INTRINSIC
low complexity region	1925	1936	N/A	INTRINSIC
low complexity region	1942	1976	N/A	INTRINSIC
low complexity region	1988	2004	N/A	INTRINSIC
low complexity region	2009	2029	N/A	INTRINSIC
low complexity region	2059	2083	N/A	INTRINSIC
SAM	2092	2158	1.35e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107935

SMART Domains

Protein: ENSMUSP00000103568
Gene: ENSMUSG00000038738

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
ANK	212	242	5.75e-1	SMART
ANK	246	275	3.6e-2	SMART
ANK	279	309	3.44e1	SMART
ANK	313	342	1.97e1	SMART
ANK	346	375	3.97e-4	SMART
ANK	379	407	5.69e2	SMART
low complexity region	452	479	N/A	INTRINSIC
low complexity region	487	504	N/A	INTRINSIC
low complexity region	521	548	N/A	INTRINSIC
SH3	557	612	3.73e-16	SMART
low complexity region	648	659	N/A	INTRINSIC
PDZ	672	761	2.12e-13	SMART
Blast:PDZ	796	831	1e-10	BLAST
low complexity region	921	942	N/A	INTRINSIC
low complexity region	956	983	N/A	INTRINSIC
low complexity region	994	1024	N/A	INTRINSIC
low complexity region	1052	1081	N/A	INTRINSIC
low complexity region	1124	1139	N/A	INTRINSIC
low complexity region	1163	1176	N/A	INTRINSIC
low complexity region	1180	1221	N/A	INTRINSIC
low complexity region	1257	1276	N/A	INTRINSIC
low complexity region	1299	1324	N/A	INTRINSIC
low complexity region	1349	1360	N/A	INTRINSIC
low complexity region	1370	1405	N/A	INTRINSIC
low complexity region	1451	1467	N/A	INTRINSIC
low complexity region	1513	1533	N/A	INTRINSIC
low complexity region	1540	1556	N/A	INTRINSIC
low complexity region	1558	1571	N/A	INTRINSIC
low complexity region	1581	1615	N/A	INTRINSIC
low complexity region	1634	1668	N/A	INTRINSIC
low complexity region	1686	1721	N/A	INTRINSIC
low complexity region	1736	1747	N/A	INTRINSIC
low complexity region	1777	1788	N/A	INTRINSIC
low complexity region	1807	1824	N/A	INTRINSIC
low complexity region	1835	1853	N/A	INTRINSIC
low complexity region	1894	1908	N/A	INTRINSIC
low complexity region	1926	1937	N/A	INTRINSIC
low complexity region	1943	1977	N/A	INTRINSIC
low complexity region	1989	2005	N/A	INTRINSIC
low complexity region	2010	2030	N/A	INTRINSIC
low complexity region	2060	2084	N/A	INTRINSIC
SAM	2093	2159	1.35e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107938

SMART Domains

Protein: ENSMUSP00000103571
Gene: ENSMUSG00000038738

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
Pfam:FERM_f0	73	156	6.6e-17	PFAM
ANK	212	242	5.75e-1	SMART
ANK	246	275	3.6e-2	SMART
ANK	279	309	3.44e1	SMART
ANK	313	342	1.97e1	SMART
ANK	346	375	3.97e-4	SMART
ANK	379	407	5.69e2	SMART
low complexity region	452	479	N/A	INTRINSIC
low complexity region	487	504	N/A	INTRINSIC
low complexity region	521	548	N/A	INTRINSIC
SH3	557	612	3.73e-16	SMART
low complexity region	648	659	N/A	INTRINSIC
PDZ	672	761	2.12e-13	SMART
Blast:PDZ	804	839	5e-11	BLAST
low complexity region	929	950	N/A	INTRINSIC
low complexity region	964	991	N/A	INTRINSIC
low complexity region	1002	1032	N/A	INTRINSIC
low complexity region	1060	1089	N/A	INTRINSIC
low complexity region	1132	1147	N/A	INTRINSIC
low complexity region	1171	1184	N/A	INTRINSIC
low complexity region	1188	1229	N/A	INTRINSIC
low complexity region	1265	1284	N/A	INTRINSIC
low complexity region	1307	1332	N/A	INTRINSIC
low complexity region	1357	1368	N/A	INTRINSIC
low complexity region	1378	1413	N/A	INTRINSIC
low complexity region	1459	1475	N/A	INTRINSIC
low complexity region	1521	1541	N/A	INTRINSIC
low complexity region	1548	1564	N/A	INTRINSIC
low complexity region	1566	1579	N/A	INTRINSIC
low complexity region	1589	1623	N/A	INTRINSIC
low complexity region	1642	1676	N/A	INTRINSIC
low complexity region	1694	1729	N/A	INTRINSIC
low complexity region	1744	1755	N/A	INTRINSIC
low complexity region	1785	1796	N/A	INTRINSIC
low complexity region	1815	1832	N/A	INTRINSIC
low complexity region	1843	1861	N/A	INTRINSIC
low complexity region	1902	1916	N/A	INTRINSIC
low complexity region	1934	1945	N/A	INTRINSIC
low complexity region	1951	1985	N/A	INTRINSIC
low complexity region	1997	2013	N/A	INTRINSIC
low complexity region	2018	2038	N/A	INTRINSIC
low complexity region	2068	2092	N/A	INTRINSIC
SAM	2101	2167	1.35e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137946

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150034

Predicted Effect

probably benign
Transcript: ENSMUST00000150886

SMART Domains

Protein: ENSMUSP00000123280
Gene: ENSMUSG00000008028

Domain	Start	End	E-Value	Type
low complexity region	111	125	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205409

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.2%
20x: 91.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,244,062 (GRCm39)	L1975Q	probably damaging	Het
Acp2	T	A	2: 91,036,443 (GRCm39)	I180N	probably benign	Het
Adam12	T	C	7: 133,577,202 (GRCm39)	D221G	probably damaging	Het
Adamts4	A	G	1: 171,080,178 (GRCm39)	T244A	probably benign	Het
Adrb2	A	T	18: 62,312,696 (GRCm39)	I43N	probably damaging	Het
Anxa1	A	T	19: 20,355,847 (GRCm39)	Y207N	probably damaging	Het
Apba2	T	C	7: 64,395,510 (GRCm39)	L662P	probably damaging	Het
Arhgap18	T	A	10: 26,788,667 (GRCm39)	I593K	probably damaging	Het
Arsj	T	C	3: 126,232,037 (GRCm39)	V261A	possibly damaging	Het
Atp7b	A	T	8: 22,549,986 (GRCm39)		probably null	Het
C2cd2	C	T	16: 97,669,791 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,384,568 (GRCm39)	S2571T	probably damaging	Het
Cep162	A	C	9: 87,109,290 (GRCm39)	L438V	probably benign	Het
Cfap74	A	T	4: 155,510,498 (GRCm39)	N361I	probably benign	Het
Cntn5	A	G	9: 9,743,633 (GRCm39)	I548T	probably damaging	Het
Cracd	A	T	5: 76,988,610 (GRCm39)		probably benign	Het
Dglucy	A	G	12: 100,816,594 (GRCm39)	N382S	probably benign	Het
Dnah10	C	A	5: 124,907,557 (GRCm39)	N4306K	probably damaging	Het
Fam181a	A	T	12: 103,282,937 (GRCm39)	M281L	probably benign	Het
Fam186b	A	G	15: 99,176,751 (GRCm39)	I713T	possibly damaging	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fry	A	T	5: 150,323,053 (GRCm39)	Y1068F	probably benign	Het
Fubp3	A	G	2: 31,493,247 (GRCm39)	I231V	probably benign	Het
Gbf1	A	G	19: 46,272,735 (GRCm39)	D1681G	possibly damaging	Het
Gm10999	G	A	8: 129,858,130 (GRCm39)	P5S	probably damaging	Het
Gm12689	T	C	4: 99,184,402 (GRCm39)	I85T	unknown	Het
Impg1	T	C	9: 80,347,318 (GRCm39)	I9V	probably benign	Het
Lama4	A	G	10: 38,948,678 (GRCm39)		probably null	Het
Lamc1	A	G	1: 153,109,310 (GRCm39)	S1161P	probably damaging	Het
Lipm	T	A	19: 34,086,954 (GRCm39)		probably null	Het
Lrrc7	G	T	3: 158,024,073 (GRCm39)	N107K	probably damaging	Het
Lypd8	T	C	11: 58,277,586 (GRCm39)	S123P	probably damaging	Het
Man2a2	T	C	7: 80,002,729 (GRCm39)	D1084G	probably damaging	Het
Man2b2	A	G	5: 36,964,519 (GRCm39)	S1000P	probably benign	Het
Ms4a7	C	T	19: 11,299,778 (GRCm39)	C71Y	probably benign	Het
Mtus1	A	G	8: 41,537,615 (GRCm39)	S34P	probably benign	Het
Myo3b	A	G	2: 70,064,785 (GRCm39)	N406S	probably benign	Het
Nbr1	A	T	11: 101,463,290 (GRCm39)	M586L	probably benign	Het
Nfatc1	C	T	18: 80,693,070 (GRCm39)	R677H	probably benign	Het
Nlrc3	A	C	16: 3,781,899 (GRCm39)	S503R	probably damaging	Het
Nlrp9c	A	T	7: 26,064,425 (GRCm39)	F968I	probably benign	Het
Onecut1	A	T	9: 74,770,614 (GRCm39)	T346S	probably damaging	Het
Or1j12	A	T	2: 36,343,455 (GRCm39)	N286I	probably damaging	Het
Or8b35	G	A	9: 37,904,307 (GRCm39)	C168Y	probably damaging	Het
Or8g32	A	G	9: 39,305,257 (GRCm39)	N57D	probably benign	Het
Pclo	A	T	5: 14,730,966 (GRCm39)	K3156M	unknown	Het
Pigo	C	T	4: 43,024,562 (GRCm39)		probably null	Het
Plcb4	T	C	2: 135,809,072 (GRCm39)	F580S	probably damaging	Het
Plekhm2	G	T	4: 141,355,411 (GRCm39)	P879H	probably damaging	Het
Ppm1e	T	A	11: 87,121,716 (GRCm39)	Y747F	probably benign	Het
Ppwd1	A	G	13: 104,361,952 (GRCm39)	F69L	possibly damaging	Het
Prss27	C	A	17: 24,257,287 (GRCm39)	Q3K	possibly damaging	Het
Prss29	T	A	17: 25,540,020 (GRCm39)	N139K	possibly damaging	Het
Qrich2	T	A	11: 116,339,191 (GRCm39)	T1777S	probably damaging	Het
Rbp3	A	T	14: 33,678,584 (GRCm39)	H844L	possibly damaging	Het
Rubcnl	G	A	14: 75,269,471 (GRCm39)	C43Y	possibly damaging	Het
Sec14l5	A	G	16: 4,985,004 (GRCm39)		probably null	Het
Sepsecs	A	T	5: 52,801,356 (GRCm39)	N435K	probably damaging	Het
Sfrp1	A	G	8: 23,936,226 (GRCm39)	K223E	probably benign	Het
Sh3tc2	G	A	18: 62,106,502 (GRCm39)		probably null	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Tmprss7	A	G	16: 45,476,811 (GRCm39)	F817S	probably damaging	Het
Tril	T	C	6: 53,796,632 (GRCm39)	N197D	probably damaging	Het
Tspan18	T	C	2: 93,040,207 (GRCm39)	T183A	probably benign	Het
Uroc1	A	T	6: 90,315,586 (GRCm39)	M156L	probably benign	Het
Wnt16	T	C	6: 22,291,160 (GRCm39)	V196A	probably benign	Het
Xpnpep1	A	G	19: 52,983,950 (GRCm39)	Y592H	probably benign	Het
Zfp553	T	C	7: 126,836,202 (GRCm39)	S586P	probably benign	Het
Zfp619	C	T	7: 39,185,152 (GRCm39)	A394V	unknown	Het
Zfp985	A	G	4: 147,667,702 (GRCm39)	Y190C	probably benign	Het
Zmynd10	T	A	9: 107,427,536 (GRCm39)	D309E	probably benign	Het
Zmynd15	T	C	11: 70,352,646 (GRCm39)	L73P	probably damaging	Het

Other mutations in 1700008O03Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00964:1700008O03Rik	APN	7	44,009,610 (GRCm39)	makesense	probably null
IGL02933:1700008O03Rik	APN	7	44,012,436 (GRCm39)	missense	possibly damaging	0.90
R2372:1700008O03Rik	UTSW	7	44,009,704 (GRCm39)	missense	probably damaging	1.00
R5540:1700008O03Rik	UTSW	7	44,012,371 (GRCm39)	missense	probably damaging	1.00
R8228:1700008O03Rik	UTSW	7	44,009,729 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GACTTTGCCGAGAGAAATGGC -3'
(R):5'- TGAACCCAAAGACGTCTCTGG -3'

Sequencing Primer
(F):5'- CCGAGAGAAATGGCTTTTGTATCAG -3'
(R):5'- AAAGACGTCTCTGGGCCTTCAC -3'

Posted On

2016-10-06