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

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.517) question?

Stock #

R7740 (G1)

Quality Score

225.009

Status

Not 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

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 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
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
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
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
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