Mutagenetix > Incidental Mutations

Incidental Mutation 'R7740:2310035C23Rik'

596465

Institutional Source

Beutler Lab

Gene Symbol

2310035C23Rik

Ensembl Gene

ENSMUSG00000026319

Gene Name

RIKEN cDNA 2310035C23 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.290) question?

Stock #

R7740 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105663861-105755191 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105731261 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 914 (V914A)

Ref Sequence

ENSEMBL: ENSMUSP00000039178 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000039173
AA Change: V914A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039178
Gene: ENSMUSG00000026319
AA Change: V914A

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 damaging
Transcript: ENSMUST00000086721
AA Change: V914A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000083926
Gene: ENSMUSG00000026319
AA Change: V914A

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

probably damaging
Transcript: ENSMUST00000190501
AA Change: V890A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141162
Gene: ENSMUSG00000026319
AA Change: V890A

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

Meta Mutation Damage Score

0.7218

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	G	A	5: 109,737,504	Q163*	probably null	Het
Anxa6	T	A	11: 55,007,899	T150S	probably damaging	Het
Bpifb6	T	A	2: 153,903,009	L45Q	probably damaging	Het
Brwd1	T	C	16: 96,027,368	D1121G	probably damaging	Het
C1ql3	A	G	2: 13,010,672	I59T	possibly damaging	Het
Ccdc80	A	G	16: 45,104,525	H674R	possibly damaging	Het
Cdhr1	T	G	14: 37,089,380	E258A	probably damaging	Het
Ces2g	T	A	8: 104,966,330	F333L	probably damaging	Het
Chn2	C	T	6: 54,300,171	T445I	probably benign	Het
Cpe	T	C	8: 64,597,528	D382G	possibly damaging	Het
Crb1	T	A	1: 139,237,690	I960L	probably benign	Het
Cyp4a14	A	T	4: 115,493,609	V156D	probably damaging	Het
Ddx23	A	T	15: 98,658,434	M1K	probably null	Het
Dnajc7	T	C	11: 100,591,561	I202V	probably benign	Het
Dsn1	T	A	2: 156,997,716	D255V	possibly damaging	Het
Dvl3	A	T	16: 20,527,250		probably null	Het
Epm2a	A	G	10: 11,390,940	D143G	possibly damaging	Het
Erc1	T	A	6: 119,761,188	M565L	probably benign	Het
Fancm	T	C	12: 65,126,547	C1878R	possibly damaging	Het
Gapvd1	T	C	2: 34,700,822	E946G	probably damaging	Het
Gm9195	C	T	14: 72,440,673	R2352K	possibly damaging	Het
Greb1	C	A	12: 16,740,121		probably benign	Het
Haus5	G	A	7: 30,663,253	A44V	possibly damaging	Het
Herc4	A	G	10: 63,269,678	Y146C	probably benign	Het
Herc6	T	G	6: 57,659,817		probably null	Het
Hivep2	G	T	10: 14,127,670	G4V	probably damaging	Het
Hsdl2	G	T	4: 59,612,724	G425V	probably damaging	Het
Igkv1-110	C	T	6: 68,270,990	L28F	probably benign	Het
Il21r	T	A	7: 125,632,555	L385Q	possibly damaging	Het
Krtap5-1	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	7: 142,296,596		probably benign	Het
Krtap5-2	C	T	7: 142,174,962	C149Y	unknown	Het
Lingo2	T	A	4: 35,709,248	N244I	probably damaging	Het
Lrrk2	C	T	15: 91,767,324	R1728C	probably damaging	Het
Macf1	A	G	4: 123,684,303		probably benign	Het
Malrd1	G	A	2: 15,614,215	V297I	not run	Het
Mars	T	A	10: 127,300,575	E460D	probably benign	Het
Nr1i3	A	G	1: 171,216,827	I174V	probably benign	Het
Odf2	C	T	2: 29,930,624	T814M	probably damaging	Het
Olfr1302	A	T	2: 111,780,448	I43F	possibly damaging	Het
Olfr1494	T	C	19: 13,749,964	V286A	probably benign	Het
Olfr728	T	C	14: 50,140,346	M98V	probably benign	Het
Pcdhga8	T	C	18: 37,727,417	S509P	probably benign	Het
Pdzd2	A	G	15: 12,374,016	L2011S	probably benign	Het
Pole	T	A	5: 110,331,041	S1930T	probably benign	Het
Poteg	T	A	8: 27,462,024		probably null	Het
Ptprk	T	A	10: 28,496,924	C724S	probably damaging	Het
Rabgap1l	T	C	1: 160,682,103	E468G	probably benign	Het
Rbm12b1	G	T	4: 12,145,954	R642L	probably benign	Het
S1pr4	A	T	10: 81,499,021	Y206*	probably null	Het
Sim2	A	G	16: 94,114,960	I261V	probably benign	Het
Slc22a12	C	A	19: 6,537,169	A448S	probably benign	Het
Slc4a2	A	G	5: 24,431,668		probably null	Het
Slc6a7	T	C	18: 61,000,423	E567G	possibly damaging	Het
St6gal1	T	C	16: 23,321,035		probably benign	Het
Syne3	T	C	12: 104,954,287	K550R	probably benign	Het
Tekt1	T	A	11: 72,359,718	T51S	probably benign	Het
Tm9sf4	T	A	2: 153,208,743	V640E	probably damaging	Het
Tnfsf8	G	T	4: 63,834,446	H127Q	possibly damaging	Het
Tomm20	A	G	8: 126,939,883	L80S	probably damaging	Het
Top2a	T	C	11: 98,993,814	D1526G	probably benign	Het
Trmt1l	T	C	1: 151,440,888	V200A	possibly damaging	Het
Trpa1	A	G	1: 14,912,401	V77A	possibly damaging	Het
Vmn2r12	A	T	5: 109,091,749	V316D	probably damaging	Het
Vmn2r14	A	T	5: 109,220,458	L223M	probably benign	Het
Zfp2	T	C	11: 50,900,778	H146R	probably damaging	Het
Zfp52	T	C	17: 21,560,990	S367P	probably 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
R5435:2310035C23Rik	UTSW	1	105741250	intron	probably benign
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
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'- GTGTGTGCTAATGCCACTTCAG -3'
(R):5'- AGACAAGCTGACTGCAGAATC -3'

Sequencing Primer
(F):5'- GCCACTTCAGAAGTATTAAGTTGTGG -3'
(R):5'- TGACTGCAGAATCATAAACCAATGG -3'

Posted On

2019-11-26