Mutagenetix > Incidental Mutation

Incidental Mutation 'R9431:2310003L06Rik'

712950

Institutional Source

Beutler Lab

Gene Symbol

2310003L06Rik

Ensembl Gene

ENSMUSG00000007457

Gene Name

RIKEN cDNA 2310003L06 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R9431 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88117318-88120729 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 88120325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 361 (I361L)

Ref Sequence

ENSEMBL: ENSMUSP00000007601 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007601] [ENSMUST00000187738]

AlphaFold

Q9CV82

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007601
AA Change: I361L

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000007601
Gene: ENSMUSG00000007457
AA Change: I361L

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187738

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	C	T	6: 140,592,594 (GRCm39)	P446L	probably damaging	Het
Arhgap32	C	A	9: 32,170,463 (GRCm39)	A1081D	probably damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Cdc73	T	A	1: 143,545,740 (GRCm39)	K299*	probably null	Het
Cpq	C	T	15: 33,250,078 (GRCm39)	T145I	probably benign	Het
Creb1	C	A	1: 64,615,413 (GRCm39)	A215E	probably damaging	Het
D630045J12Rik	G	T	6: 38,173,814 (GRCm39)	A118E	probably benign	Het
Dnah7a	A	T	1: 53,450,812 (GRCm39)	F3873I	possibly damaging	Het
Dock10	T	C	1: 80,583,593 (GRCm39)	Y203C	probably damaging	Het
Evi5	A	G	5: 107,990,150 (GRCm39)	V23A	probably damaging	Het
Fat2	T	C	11: 55,142,838 (GRCm39)	D4337G	probably damaging	Het
Fbxl17	G	A	17: 63,387,489 (GRCm39)	T631I	probably damaging	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Focad	A	G	4: 88,321,583 (GRCm39)	M1559V	unknown	Het
Fras1	A	T	5: 96,900,873 (GRCm39)	I3031L	possibly damaging	Het
Gnas	T	C	2: 174,139,826 (GRCm39)	S58P	unknown	Het
Hdac9	G	A	12: 34,440,327 (GRCm39)	Q351*	probably null	Het
Ibsp	A	T	5: 104,457,167 (GRCm39)	N92I	probably damaging	Het
Kank1	C	A	19: 25,387,866 (GRCm39)	T513N	probably damaging	Het
Kcnh1	A	G	1: 192,101,123 (GRCm39)	T599A	probably benign	Het
Kdm5a	T	A	6: 120,392,253 (GRCm39)	L992M	probably damaging	Het
Lipc	T	C	9: 70,723,889 (GRCm39)	Y245C	probably damaging	Het
Mdfic2	T	C	6: 98,215,164 (GRCm39)	H153R	probably benign	Het
Morc3	C	A	16: 93,667,771 (GRCm39)	Y716*	probably null	Het
Mroh2b	A	T	15: 4,963,952 (GRCm39)	D848V	probably damaging	Het
Or13c7e-ps1	A	C	4: 43,781,682 (GRCm39)	I216S	possibly damaging	Het
Or2d2b	T	A	7: 106,705,336 (GRCm39)	H244L	probably damaging	Het
Or2y1b	A	G	11: 49,208,459 (GRCm39)	I29V	probably benign	Het
Or5h27	A	G	16: 59,006,090 (GRCm39)	V252A	unknown	Het
Or6ae1	T	A	7: 139,741,942 (GRCm39)	Q307L	probably benign	Het
Patl1	A	G	19: 11,898,815 (GRCm39)	E170G	probably damaging	Het
Rad17	A	G	13: 100,780,074 (GRCm39)	V112A	probably damaging	Het
Rigi	A	G	4: 40,229,545 (GRCm39)	S125P	probably benign	Het
Sertad2	A	T	11: 20,598,425 (GRCm39)	E207V	probably benign	Het
Slc12a5	T	C	2: 164,832,178 (GRCm39)	V699A	possibly damaging	Het
Slc13a4	A	G	6: 35,278,742 (GRCm39)	V49A	probably damaging	Het
Slc22a6	A	G	19: 8,598,596 (GRCm39)	T218A	probably benign	Het
Slc30a9	A	G	5: 67,505,278 (GRCm39)	D422G	probably damaging	Het
Slc37a3	T	C	6: 39,324,363 (GRCm39)	Y295C	possibly damaging	Het
Slc39a8	T	C	3: 135,563,923 (GRCm39)	V256A	probably benign	Het
Slc45a2	G	A	15: 11,026,005 (GRCm39)	E452K	possibly damaging	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Slc7a12	G	A	3: 14,546,035 (GRCm39)	C60Y	probably damaging	Het
St8sia3	T	A	18: 64,398,640 (GRCm39)	L33Q	probably damaging	Het
Tiam1	A	G	16: 89,594,918 (GRCm39)		probably null	Het
Trim37	T	A	11: 87,077,257 (GRCm39)	V529E	probably benign	Het
Trpv3	A	T	11: 73,178,225 (GRCm39)	T431S	probably benign	Het
Tsc22d1	TCAGCAGCAGCAGCAGCAGCAGCAGCA	TCAGCAGCAGCAGCAGCAGCAGCA	14: 76,654,707 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,544,679 (GRCm39)	V32808M	probably damaging	Het
Vmn2r27	T	C	6: 124,168,856 (GRCm39)	Y758C	probably damaging	Het
Vwa5b2	C	T	16: 20,423,046 (GRCm39)	P1015S	probably benign	Het
Whamm	A	G	7: 81,236,035 (GRCm39)	R413G	probably damaging	Het
Zbtb41	C	T	1: 139,350,781 (GRCm39)		probably benign	Het
Zfp119b	A	G	17: 56,246,536 (GRCm39)	S217P	possibly damaging	Het

Other mutations in 2310003L06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01396:2310003L06Rik	APN	5	88,120,649 (GRCm39)	missense	probably benign	0.37
IGL01938:2310003L06Rik	APN	5	88,119,567 (GRCm39)	missense	probably damaging	0.99
IGL03032:2310003L06Rik	APN	5	88,119,774 (GRCm39)	missense	possibly damaging	0.94
D3080:2310003L06Rik	UTSW	5	88,119,846 (GRCm39)	missense	possibly damaging	0.53
G1Funyon:2310003L06Rik	UTSW	5	88,120,364 (GRCm39)	missense	probably benign	0.01
IGL02984:2310003L06Rik	UTSW	5	88,120,662 (GRCm39)	missense	probably damaging	0.97
PIT4243001:2310003L06Rik	UTSW	5	88,119,999 (GRCm39)	missense	possibly damaging	0.95
R0359:2310003L06Rik	UTSW	5	88,112,455 (GRCm39)	unclassified	probably benign
R0676:2310003L06Rik	UTSW	5	88,112,516 (GRCm39)	unclassified	probably benign
R1524:2310003L06Rik	UTSW	5	88,119,548 (GRCm39)	missense	probably benign	0.37
R1536:2310003L06Rik	UTSW	5	88,118,524 (GRCm39)	missense	probably benign
R1998:2310003L06Rik	UTSW	5	88,118,553 (GRCm39)	missense	probably damaging	0.98
R2080:2310003L06Rik	UTSW	5	88,119,792 (GRCm39)	missense	probably damaging	1.00
R2132:2310003L06Rik	UTSW	5	88,112,335 (GRCm39)	unclassified	probably benign
R2177:2310003L06Rik	UTSW	5	88,120,312 (GRCm39)	missense	probably damaging	0.98
R2399:2310003L06Rik	UTSW	5	88,120,338 (GRCm39)	missense	probably damaging	0.98
R3748:2310003L06Rik	UTSW	5	88,112,422 (GRCm39)	unclassified	probably benign
R4010:2310003L06Rik	UTSW	5	88,120,136 (GRCm39)	missense	probably damaging	0.96
R4096:2310003L06Rik	UTSW	5	88,120,008 (GRCm39)	missense	possibly damaging	0.57
R4656:2310003L06Rik	UTSW	5	88,112,534 (GRCm39)	unclassified	probably benign
R4823:2310003L06Rik	UTSW	5	88,120,457 (GRCm39)	missense	probably benign	0.00
R5753:2310003L06Rik	UTSW	5	88,120,374 (GRCm39)	missense	probably damaging	0.99
R6087:2310003L06Rik	UTSW	5	88,119,621 (GRCm39)	missense	possibly damaging	0.94
R6931:2310003L06Rik	UTSW	5	88,118,561 (GRCm39)	missense	probably damaging	0.97
R7032:2310003L06Rik	UTSW	5	88,120,438 (GRCm39)	missense	possibly damaging	0.79
R7703:2310003L06Rik	UTSW	5	88,120,671 (GRCm39)	missense	possibly damaging	0.90
R7912:2310003L06Rik	UTSW	5	88,120,451 (GRCm39)	missense	probably benign	0.35
R8185:2310003L06Rik	UTSW	5	88,120,011 (GRCm39)	missense	possibly damaging	0.73
R8301:2310003L06Rik	UTSW	5	88,120,364 (GRCm39)	missense	probably benign	0.01
R9010:2310003L06Rik	UTSW	5	88,119,504 (GRCm39)	missense	possibly damaging	0.68
R9179:2310003L06Rik	UTSW	5	88,119,890 (GRCm39)	missense	probably benign	0.00
R9225:2310003L06Rik	UTSW	5	88,120,433 (GRCm39)	missense	probably benign
R9226:2310003L06Rik	UTSW	5	88,118,518 (GRCm39)	start codon destroyed	probably benign	0.14
R9309:2310003L06Rik	UTSW	5	88,120,332 (GRCm39)	missense	probably damaging	0.99
R9373:2310003L06Rik	UTSW	5	88,120,668 (GRCm39)	missense	probably benign	0.37
Z1088:2310003L06Rik	UTSW	5	88,120,165 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ATGCTGTCTTTCAGGAAACAGAAG -3'
(R):5'- GCATCAGGAATTGGTTTGGAGATAG -3'

Sequencing Primer
(F):5'- GTCTTTCAGGAAACAGAAGATATTCC -3'
(R):5'- TAGAATTACTAGATGTAGGGACTGC -3'

Posted On

2022-05-16