Mutagenetix > Incidental Mutations

Incidental Mutation 'R5435:2310035C23Rik'

428240

Institutional Source

Beutler Lab

Gene Symbol

2310035C23Rik

Ensembl Gene

ENSMUSG00000026319

Gene Name

RIKEN cDNA 2310035C23 gene

Synonyms

MMRRC Submission

043000-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.329) question?

Stock #

R5435 (G1)

Quality Score

120

Status

Validated

Chromosome

Chromosomal Location

105663861-105755191 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 105741250 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000141162 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039173] [ENSMUST00000086721] [ENSMUST00000186807] [ENSMUST00000190501]

Predicted Effect

probably benign
Transcript: ENSMUST00000039173

SMART Domains

Protein: ENSMUSP00000039178
Gene: ENSMUSG00000026319

Domain	Start	End	E-Value	Type
low complexity region	7	14	N/A	INTRINSIC
low complexity region	20	28	N/A	INTRINSIC
low complexity region	35	47	N/A	INTRINSIC
low complexity region	76	86	N/A	INTRINSIC
low complexity region	107	119	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC
LisH	231	263	1.25e-3	SMART
coiled coil region	334	372	N/A	INTRINSIC
SCOP:d1b3ua_	532	1069	4e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000086721

SMART Domains

Protein: ENSMUSP00000083926
Gene: ENSMUSG00000026319

Domain	Start	End	E-Value	Type
low complexity region	7	14	N/A	INTRINSIC
low complexity region	20	28	N/A	INTRINSIC
low complexity region	35	47	N/A	INTRINSIC
low complexity region	76	86	N/A	INTRINSIC
low complexity region	107	119	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC
coiled coil region	197	232	N/A	INTRINSIC
LisH	255	287	1.25e-3	SMART
coiled coil region	358	396	N/A	INTRINSIC
SCOP:d1b3ua_	556	1093	5e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000185692

Predicted Effect

probably benign
Transcript: ENSMUST00000186807

SMART Domains

Protein: ENSMUSP00000140699
Gene: ENSMUSG00000026319

Domain	Start	End	E-Value	Type
low complexity region	7	14	N/A	INTRINSIC
low complexity region	20	28	N/A	INTRINSIC
low complexity region	35	47	N/A	INTRINSIC
low complexity region	76	86	N/A	INTRINSIC
low complexity region	107	119	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC
coiled coil region	197	232	N/A	INTRINSIC
LisH	255	287	3.9e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188588

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190459

Predicted Effect

probably benign
Transcript: ENSMUST00000190501

SMART Domains

Protein: ENSMUSP00000141162
Gene: ENSMUSG00000026319

Domain	Start	End	E-Value	Type
low complexity region	7	14	N/A	INTRINSIC
low complexity region	20	28	N/A	INTRINSIC
low complexity region	35	47	N/A	INTRINSIC
low complexity region	76	86	N/A	INTRINSIC
low complexity region	107	119	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC
LisH	231	263	1.25e-3	SMART
coiled coil region	334	372	N/A	INTRINSIC
SCOP:d1b3ua_	532	1069	4e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191293

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,661,456	F851L	probably benign	Het
Abca17	C	T	17: 24,267,614	V1480I	possibly damaging	Het
Acsbg1	G	T	9: 54,615,869	Y491*	probably null	Het
Acsf3	T	A	8: 122,780,281	N104K	probably damaging	Het
Adam23	T	C	1: 63,546,453	Y400H	possibly damaging	Het
Adgra3	G	A	5: 49,990,126	T524M	probably damaging	Het
Aff1	G	A	5: 103,754,332		probably benign	Het
Anxa9	T	C	3: 95,297,250	Y321C	probably damaging	Het
Ap1g1	T	A	8: 109,838,920	Y329N	probably damaging	Het
Aph1c	A	T	9: 66,834,501	I33N	possibly damaging	Het
B3galnt2	A	G	13: 13,996,990	E491G	probably benign	Het
Bdh1	C	T	16: 31,456,657	R235C	probably damaging	Het
Ccar2	A	G	14: 70,139,327	L856P	probably damaging	Het
Ccdc107	A	T	4: 43,493,519	D30V	probably damaging	Het
Ccdc116	G	T	16: 17,142,762	H64N	probably benign	Het
Ccl12	T	C	11: 82,103,175	I86T	possibly damaging	Het
Col2a1	T	C	15: 98,000,510		probably benign	Het
Col4a4	T	A	1: 82,454,007	I1519F	unknown	Het
Ddx19b	T	C	8: 111,008,826	Q416R	possibly damaging	Het
Dnah6	T	A	6: 73,060,138	M3374L	probably benign	Het
Dnajc6	A	T	4: 101,606,610	I119F	probably damaging	Het
Ensa	C	A	3: 95,622,458		probably benign	Het
Fbxo4	C	T	15: 3,965,792	V357I	possibly damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Foxf1	G	A	8: 121,084,492	G32S	probably damaging	Het
Gls2	G	A	10: 128,195,126		probably benign	Het
Gm13599	T	A	2: 67,396,152		noncoding transcript	Het
Gmnn	A	G	13: 24,752,101	S197P	probably benign	Het
Guf1	A	T	5: 69,563,169	H324L	probably benign	Het
H2-Q6	A	G	17: 35,425,685	D150G	probably damaging	Het
Herc3	T	A	6: 58,855,806	L152Q	probably damaging	Het
Hnrnpul2	T	G	19: 8,820,318	S13A	probably benign	Het
Ighv5-4	A	G	12: 113,597,663	F46L	probably benign	Het
Kank1	T	G	19: 25,411,143	S727A	probably benign	Het
Kcnma1	A	T	14: 23,528,404	Y201*	probably null	Het
Lyst	A	T	13: 13,777,064	H3750L	possibly damaging	Het
Mettl25	A	G	10: 105,779,586		probably null	Het
Mpdz	A	G	4: 81,283,487		probably benign	Het
Myh9	C	T	15: 77,769,609	V1280I	probably benign	Het
Neto1	A	T	18: 86,398,263	T32S	probably benign	Het
Nol7	C	A	13: 43,401,372	H187Q	possibly damaging	Het
Olfr992	T	A	2: 85,400,470	N21I	probably benign	Het
Pcdha8	A	G	18: 36,993,599	D378G	probably damaging	Het
Peak1	A	G	9: 56,206,486	S694P	probably damaging	Het
Pih1d1	T	A	7: 45,156,272		probably null	Het
Pik3c2g	T	G	6: 139,715,855		probably null	Het
Prkar2a	A	G	9: 108,740,483	R247G	probably damaging	Het
Psg26	A	G	7: 18,478,473	I319T	possibly damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rasa3	T	C	8: 13,631,811	E46G	possibly damaging	Het
Rbbp5	T	A	1: 132,494,275	H304Q	probably damaging	Het
Scn1a	T	A	2: 66,273,534	E1783V	probably damaging	Het
Stag1	A	G	9: 100,953,550	N151S	probably benign	Het
Tbc1d32	C	A	10: 56,040,150	A1191S	probably damaging	Het
Tchh	C	A	3: 93,443,672	R140S	possibly damaging	Het
Trank1	A	G	9: 111,391,890	Y2565C	probably benign	Het
Ttn	A	T	2: 76,914,358	V5449D	probably damaging	Het
Tubgcp2	G	A	7: 139,996,072	P893S	possibly damaging	Het
Wdfy4	A	G	14: 33,020,311	F2325S	probably damaging	Het
Wdr35	A	G	12: 8,989,951	D352G	probably benign	Het
Wee1	TCCCC	TCCC	7: 110,124,569		probably null	Het
Ypel3	A	G	7: 126,775,788		probably benign	Het
Zan	T	A	5: 137,403,762	T4023S	unknown	Het
Zfp735	T	A	11: 73,712,113	C628S	possibly damaging	Het

Other mutations in 2310035C23Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00493:2310035C23Rik	APN	1	105696599	splice site	probably benign
IGL02393:2310035C23Rik	APN	1	105687368	missense	probably damaging	1.00
IGL02655:2310035C23Rik	APN	1	105678246	missense	probably damaging	1.00
IGL02992:2310035C23Rik	APN	1	105719464	missense	possibly damaging	0.89
IGL03170:2310035C23Rik	APN	1	105735955	missense	probably damaging	0.99
IGL03050:2310035C23Rik	UTSW	1	105726381	missense	probably damaging	0.98
R0022:2310035C23Rik	UTSW	1	105691902	splice site	probably benign
R0399:2310035C23Rik	UTSW	1	105750959	splice site	probably benign
R1243:2310035C23Rik	UTSW	1	105750364	missense	probably damaging	1.00
R1563:2310035C23Rik	UTSW	1	105719534	missense	probably damaging	1.00
R1760:2310035C23Rik	UTSW	1	105719444	splice site	probably benign
R1894:2310035C23Rik	UTSW	1	105664576	missense	probably benign	0.12
R2036:2310035C23Rik	UTSW	1	105743254	missense	probably damaging	1.00
R2428:2310035C23Rik	UTSW	1	105746126	missense	possibly damaging	0.88
R2905:2310035C23Rik	UTSW	1	105691994	missense	probably benign	0.04
R3121:2310035C23Rik	UTSW	1	105725799	missense	probably benign	0.15
R3750:2310035C23Rik	UTSW	1	105753577	missense	probably damaging	1.00
R3886:2310035C23Rik	UTSW	1	105692213	missense	probably benign	0.14
R4284:2310035C23Rik	UTSW	1	105721287	missense	probably damaging	0.98
R4671:2310035C23Rik	UTSW	1	105718859	missense	probably benign	0.00
R4706:2310035C23Rik	UTSW	1	105692279	missense	probably benign	0.28
R4760:2310035C23Rik	UTSW	1	105721305	missense	probably benign	0.17
R4776:2310035C23Rik	UTSW	1	105719535	nonsense	probably null
R5031:2310035C23Rik	UTSW	1	105664514	missense	probably damaging	1.00
R5051:2310035C23Rik	UTSW	1	105691986	missense	possibly damaging	0.85
R5085:2310035C23Rik	UTSW	1	105678180	missense	probably damaging	0.99
R5104:2310035C23Rik	UTSW	1	105731240	missense	probably benign	0.45
R5187:2310035C23Rik	UTSW	1	105718809	nonsense	probably null
R5259:2310035C23Rik	UTSW	1	105721376	missense	probably benign	0.01
R5444:2310035C23Rik	UTSW	1	105726384	missense	possibly damaging	0.60
R5490:2310035C23Rik	UTSW	1	105719501	missense	probably damaging	0.99
R5513:2310035C23Rik	UTSW	1	105750973	missense	probably damaging	0.99
R5556:2310035C23Rik	UTSW	1	105693167	missense	probably benign
R5734:2310035C23Rik	UTSW	1	105703883	intron	probably benign
R5779:2310035C23Rik	UTSW	1	105687347	missense	probably damaging	1.00
R5822:2310035C23Rik	UTSW	1	105718856	missense	probably damaging	1.00
R5878:2310035C23Rik	UTSW	1	105692960	missense	probably benign
R6015:2310035C23Rik	UTSW	1	105691958	missense	probably damaging	1.00
R6051:2310035C23Rik	UTSW	1	105721272	missense	probably damaging	1.00
R6266:2310035C23Rik	UTSW	1	105731282	critical splice donor site	probably null
R6556:2310035C23Rik	UTSW	1	105726440	missense	probably damaging	1.00
R6571:2310035C23Rik	UTSW	1	105692982	missense	probably benign
R6612:2310035C23Rik	UTSW	1	105692007	missense	possibly damaging	0.72
R6852:2310035C23Rik	UTSW	1	105753595	missense	probably damaging	1.00
R7209:2310035C23Rik	UTSW	1	105750357	missense	probably damaging	1.00
R7284:2310035C23Rik	UTSW	1	105734583	missense	probably benign	0.01
R7292:2310035C23Rik	UTSW	1	105721416	critical splice donor site	probably null
R7534:2310035C23Rik	UTSW	1	105741023	missense	probably benign	0.01
R7740:2310035C23Rik	UTSW	1	105731261	missense	probably damaging	1.00
R8036:2310035C23Rik	UTSW	1	105678177	missense	probably damaging	1.00
R8234:2310035C23Rik	UTSW	1	105753510	missense	possibly damaging	0.93
Z1176:2310035C23Rik	UTSW	1	105719615	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- CTTCGAGGCATGAGTGAAGC -3'
(R):5'- TGTCATCAGAAATCTGTCATCACC -3'

Sequencing Primer
(F):5'- CATTAGTTGACAAGCGGGTTGC -3'
(R):5'- TCAGAAATCTGTCATCACCACTGG -3'

Posted On

2016-09-01