Mutagenetix > Incidental Mutation

Incidental Mutation 'R2177:2310003L06Rik'

236931

Institutional Source

Beutler Lab

Gene Symbol

2310003L06Rik

Ensembl Gene

ENSMUSG00000007457

Gene Name

RIKEN cDNA 2310003L06 gene

Synonyms

MMRRC Submission

040179-MU

Accession Numbers

Essential gene?

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

Stock #

R2177 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88117318-88120729 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 88120312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 356 (N356K)

Ref Sequence

ENSEMBL: ENSMUSP00000007601 (fasta)

Gene Model

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

AlphaFold

Q9CV82

Predicted Effect

probably damaging
Transcript: ENSMUST00000007601
AA Change: N356K

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000007601
Gene: ENSMUSG00000007457
AA Change: N356K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000187738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190123

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (60/62)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	C	T	16: 30,952,346 (GRCm39)		probably null	Het
Adamts19	T	C	18: 59,087,626 (GRCm39)	L552P	possibly damaging	Het
Adamts2	T	A	11: 50,668,055 (GRCm39)	M539K	probably damaging	Het
Aplp1	A	T	7: 30,141,946 (GRCm39)	C210*	probably null	Het
Apoa1	A	T	9: 46,141,371 (GRCm39)	K156*	probably null	Het
AW551984	G	A	9: 39,511,111 (GRCm39)	R159C	probably benign	Het
Bok	C	T	1: 93,622,787 (GRCm39)	Q112*	probably null	Het
Cemip2	T	C	19: 21,789,149 (GRCm39)	S528P	possibly damaging	Het
Cfap57	T	G	4: 118,463,885 (GRCm39)	I323L	probably benign	Het
Cfap69	T	A	5: 5,675,803 (GRCm39)	E270D	probably damaging	Het
Ch25h	G	T	19: 34,452,097 (GRCm39)	L144M	probably damaging	Het
Clcn6	T	A	4: 148,099,057 (GRCm39)	I429F	possibly damaging	Het
Cpb1	T	A	3: 20,320,611 (GRCm39)	T115S	probably benign	Het
Csf1r	T	A	18: 61,248,015 (GRCm39)		probably benign	Het
Ddx6	A	G	9: 44,539,028 (GRCm39)	T279A	probably damaging	Het
Dnah8	A	G	17: 30,872,367 (GRCm39)	H452R	probably benign	Het
Dscam	T	A	16: 96,411,524 (GRCm39)	D1784V	probably damaging	Het
Exo1	T	A	1: 175,710,456 (GRCm39)		probably null	Het
Fcho1	A	G	8: 72,164,905 (GRCm39)	S459P	probably damaging	Het
Fxyd4	C	T	6: 117,911,393 (GRCm39)	A56T	probably damaging	Het
Gbf1	T	C	19: 46,254,109 (GRCm39)	S599P	probably benign	Het
Iqce	T	C	5: 140,677,348 (GRCm39)		probably benign	Het
Kat2a	A	G	11: 100,601,648 (GRCm39)	F256L	probably damaging	Het
Klk1b1	G	T	7: 43,618,695 (GRCm39)	R24L	possibly damaging	Het
Krtap16-1	A	G	11: 99,877,275 (GRCm39)	V43A	probably damaging	Het
Maea	C	G	5: 33,529,034 (GRCm39)	Q326E	probably benign	Het
Man1a2	A	T	3: 100,539,847 (GRCm39)	I308N	probably damaging	Het
Marf1	G	T	16: 13,970,471 (GRCm39)	R83S	probably benign	Het
Me3	A	C	7: 89,282,278 (GRCm39)	T54P	probably benign	Het
Mme	A	T	3: 63,208,426 (GRCm39)	I63L	probably benign	Het
Mmel1	A	G	4: 154,978,560 (GRCm39)	N664S	probably damaging	Het
Mrgprb2	A	G	7: 48,202,128 (GRCm39)	V199A	probably benign	Het
Mrpl36	T	A	13: 73,479,588 (GRCm39)	F33I	probably benign	Het
Nlrp4e	A	T	7: 23,054,686 (GRCm39)	T947S	probably benign	Het
Or14c45	G	A	7: 86,176,870 (GRCm39)	V302I	probably benign	Het
Or4b1d	T	A	2: 89,968,808 (GRCm39)	H225L	possibly damaging	Het
Or8b55	A	T	9: 38,727,482 (GRCm39)	I228F	possibly damaging	Het
Parp4	A	T	14: 56,896,746 (GRCm39)	R1923S	unknown	Het
Pcm1	T	C	8: 41,729,002 (GRCm39)	V658A	probably benign	Het
Pkhd1l1	A	G	15: 44,322,791 (GRCm39)	S26G	probably benign	Het
Prom1	A	T	5: 44,184,081 (GRCm39)	H433Q	possibly damaging	Het
Rab7	T	C	6: 87,982,063 (GRCm39)	D104G	probably damaging	Het
Rabgap1l	A	G	1: 160,551,632 (GRCm39)	V282A	possibly damaging	Het
Rdh13	T	C	7: 4,430,666 (GRCm39)	E264G	possibly damaging	Het
Rock1	C	G	18: 10,070,263 (GRCm39)	R1270T	probably benign	Het
Sdhaf4	C	T	1: 24,035,370 (GRCm39)	G93R	probably damaging	Het
Sec24a	T	C	11: 51,595,228 (GRCm39)	T910A	probably benign	Het
Sesn1	A	G	10: 41,779,778 (GRCm39)	H345R	possibly damaging	Het
Snx4	T	A	16: 33,106,428 (GRCm39)		probably null	Het
Tchh	A	G	3: 93,351,439 (GRCm39)	E293G	unknown	Het
Ulk2	T	A	11: 61,682,335 (GRCm39)	T727S	probably benign	Het
Usp53	T	C	3: 122,729,706 (GRCm39)	E756G	probably damaging	Het
Vmn2r68	G	A	7: 84,871,123 (GRCm39)	A720V	probably benign	Het
Vmn2r79	A	G	7: 86,645,839 (GRCm39)	N56S	possibly damaging	Het
Washc5	A	T	15: 59,235,118 (GRCm39)	Y263*	probably null	Het
Zfp119b	A	T	17: 56,245,639 (GRCm39)	C516S	probably 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
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
R9431:2310003L06Rik	UTSW	5	88,120,325 (GRCm39)	missense	possibly damaging	0.78
Z1088:2310003L06Rik	UTSW	5	88,120,165 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGCCTTGGCAGATGAGAGTG -3'
(R):5'- AGGGACTGCAGTATTACCTTCTG -3'

Sequencing Primer
(F):5'- CAGATGAGAGTGCCATTGTCACATC -3'
(R):5'- GGTTCTACATTGTCTTTAGTACCTG -3'

Posted On

2014-10-02