Mutagenetix > Incidental Mutation

Incidental Mutation 'R6602:2310022B05Rik'

525358

Institutional Source

Beutler Lab

Gene Symbol

2310022B05Rik

Ensembl Gene

ENSMUSG00000031983

Gene Name

RIKEN cDNA 2310022B05 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R6602 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125362495-125390108 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125365993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 250 (L250P)

Ref Sequence

ENSEMBL: ENSMUSP00000034464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034464]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034464
AA Change: L250P

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034464
Gene: ENSMUSG00000031983
AA Change: L250P

Domain	Start	End	E-Value	Type
low complexity region	1	17	N/A	INTRINSIC
Pfam:DUF4706	31	135	4.1e-45	PFAM
low complexity region	271	286	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,112,769 (GRCm39)	H12R	probably benign	Het
Abca4	A	C	3: 121,932,150 (GRCm39)	Q268P	probably benign	Het
Adgrf5	T	A	17: 43,761,195 (GRCm39)	N963K	probably benign	Het
Arl10	A	G	13: 54,726,750 (GRCm39)	D176G	probably damaging	Het
Btnl1	T	A	17: 34,604,722 (GRCm39)	M501K	probably damaging	Het
Ccdc162	G	T	10: 41,491,976 (GRCm39)	T1079K	probably benign	Het
Cd163	T	A	6: 124,288,594 (GRCm39)	W342R	probably damaging	Het
Cd70	T	C	17: 57,456,562 (GRCm39)	S14G	probably benign	Het
Chil4	C	A	3: 106,117,906 (GRCm39)	K121N	probably benign	Het
Csf1r	A	G	18: 61,243,497 (GRCm39)	D171G	possibly damaging	Het
Cyp4a31	A	T	4: 115,426,904 (GRCm39)		probably null	Het
Dapk1	A	T	13: 60,897,018 (GRCm39)	I746F	probably benign	Het
Erbb4	A	G	1: 68,409,662 (GRCm39)	S192P	probably damaging	Het
Exoc8	C	A	8: 125,623,150 (GRCm39)	V406L	probably damaging	Het
Fam168b	C	A	1: 34,875,822 (GRCm39)	G21V	probably damaging	Het
Greb1	A	T	12: 16,759,441 (GRCm39)	V652E	probably benign	Het
Ift88	A	G	14: 57,744,716 (GRCm39)	S745G	probably benign	Het
Il18bp	T	C	7: 101,665,237 (GRCm39)		probably benign	Het
Il6st	A	G	13: 112,640,947 (GRCm39)	T908A	probably damaging	Het
Klk1b11	A	G	7: 43,424,198 (GRCm39)	S6G	probably benign	Het
Mastl	T	C	2: 23,022,689 (GRCm39)	Y678C	probably benign	Het
Msra	A	T	14: 64,360,788 (GRCm39)	H184Q	probably benign	Het
Muc16	A	C	9: 18,520,772 (GRCm39)		probably null	Het
Myo3a	T	G	2: 22,467,799 (GRCm39)	L351R	probably damaging	Het
Npy5r	GCTGTGAAACACTG	GCTG	8: 67,134,192 (GRCm39)		probably null	Het
Or4d2	T	C	11: 87,784,478 (GRCm39)	T91A	probably benign	Het
Or7d11	C	T	9: 19,966,342 (GRCm39)	R139Q	probably benign	Het
Or7g18	A	G	9: 18,787,145 (GRCm39)	D174G	possibly damaging	Het
Pcdhb18	A	T	18: 37,623,533 (GRCm39)	I288F	probably damaging	Het
Pitpna	T	G	11: 75,511,141 (GRCm39)	V238G	possibly damaging	Het
Ppfibp1	T	A	6: 146,879,719 (GRCm39)	V81E	possibly damaging	Het
Rab11fip2	T	A	19: 59,931,288 (GRCm39)	T49S	probably damaging	Het
Rsl24d1	T	A	9: 73,020,792 (GRCm39)	I3N	possibly damaging	Het
Rtn1	T	C	12: 72,266,092 (GRCm39)	N161S	probably damaging	Het
Shank1	A	G	7: 44,001,760 (GRCm39)	I1151V	probably benign	Het
Slc34a3	A	G	2: 25,119,221 (GRCm39)	S550P	probably damaging	Het
Slc4a1ap	A	G	5: 31,684,985 (GRCm39)	H207R	probably damaging	Het
Sphkap	T	A	1: 83,253,479 (GRCm39)	K1423N	possibly damaging	Het
Ttn	A	G	2: 76,712,097 (GRCm39)		probably benign	Het
Ubqln5	T	A	7: 103,778,696 (GRCm39)	S43C	probably benign	Het
Vps13d	G	A	4: 144,830,234 (GRCm39)		probably benign	Het
Wwp1	A	T	4: 19,641,816 (GRCm39)	V413D	probably damaging	Het
Zfp267	G	T	3: 36,219,004 (GRCm39)	L341F	possibly damaging	Het

Other mutations in 2310022B05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01357:2310022B05Rik	APN	8	125,366,072 (GRCm39)	missense	probably damaging	0.97
IGL02141:2310022B05Rik	APN	8	125,364,645 (GRCm39)	utr 3 prime	probably benign
R0245:2310022B05Rik	UTSW	8	125,378,168 (GRCm39)	splice site	probably benign
R2038:2310022B05Rik	UTSW	8	125,389,762 (GRCm39)	missense	probably damaging	1.00
R2157:2310022B05Rik	UTSW	8	125,378,168 (GRCm39)	splice site	probably benign
R4652:2310022B05Rik	UTSW	8	125,366,350 (GRCm39)	missense	probably damaging	1.00
R4771:2310022B05Rik	UTSW	8	125,366,300 (GRCm39)	missense	probably benign	0.01
R4867:2310022B05Rik	UTSW	8	125,366,099 (GRCm39)	missense	probably damaging	1.00
R6018:2310022B05Rik	UTSW	8	125,365,853 (GRCm39)	missense	probably benign	0.00
R6849:2310022B05Rik	UTSW	8	125,366,261 (GRCm39)	missense	probably damaging	0.99
R7924:2310022B05Rik	UTSW	8	125,390,051 (GRCm39)	start gained	probably benign
R8759:2310022B05Rik	UTSW	8	125,365,916 (GRCm39)	missense	probably benign	0.02
R9778:2310022B05Rik	UTSW	8	125,366,098 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTGGTCATCCATGAAAGACCC -3'
(R):5'- CTGGAAGATCAATGCCGAGC -3'

Sequencing Primer
(F):5'- GTGAATTTGGCAGCATCACC -3'
(R):5'- AGATCAATGCCGAGCGCTCTC -3'

Posted On

2018-06-22