Mutagenetix > Incidental Mutation

Incidental Mutation 'R2274:2300003K06Rik'

244991

Institutional Source

Beutler Lab

Gene Symbol

2300003K06Rik

Ensembl Gene

ENSMUSG00000078257

Gene Name

RIKEN cDNA 2300003K06 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R2274 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

99727974-99728892 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99728667 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 59 (C59S)

Ref Sequence

ENSEMBL: ENSMUSP00000100675 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105054]

AlphaFold

A2A4M0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105054
AA Change: C59S

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000100675
Gene: ENSMUSG00000078257
AA Change: C59S

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	47	1.5e-9	PFAM
Pfam:Keratin_B2_2	34	78	1.9e-9	PFAM
Pfam:Keratin_B2_2	61	116	1.3e-4	PFAM
Pfam:Keratin_B2_2	99	142	4.2e-6	PFAM
Pfam:Keratin_B2_2	114	162	1.1e-5	PFAM
Pfam:Keratin_B2_2	158	202	4.4e-12	PFAM
Pfam:Keratin_B2_2	188	236	1.6e-9	PFAM
Pfam:Keratin_B2_2	231	262	6.7e-5	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000120751

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,166,107 (GRCm39)	N1556K	possibly damaging	Het
Abcb10	G	T	8: 124,709,491 (GRCm39)	A21E	probably benign	Het
Ackr1	T	C	1: 173,160,052 (GRCm39)	N156D	probably benign	Het
Adamtsl3	A	T	7: 82,255,766 (GRCm39)	S1593C	probably benign	Het
Ank3	T	A	10: 69,786,772 (GRCm39)		probably null	Het
Aqp4	A	G	18: 15,526,537 (GRCm39)	S315P	probably benign	Het
Atp7b	T	C	8: 22,510,848 (GRCm39)	I433V	probably benign	Het
Bco1	G	A	8: 117,835,522 (GRCm39)		probably null	Het
Cacna1g	T	A	11: 94,306,762 (GRCm39)	E1842V	probably damaging	Het
Calhm3	T	A	19: 47,145,986 (GRCm39)	Q73L	probably damaging	Het
Car5a	C	T	8: 122,671,408 (GRCm39)		probably null	Het
Cdk11b	T	A	4: 155,732,051 (GRCm39)		probably benign	Het
Cdr2	A	T	7: 120,557,732 (GRCm39)	H264Q	possibly damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
D7Ertd443e	A	G	7: 133,871,930 (GRCm39)	S644P	probably damaging	Het
Dnlz	A	T	2: 26,241,483 (GRCm39)	C82S	probably damaging	Het
Egr4	A	T	6: 85,489,725 (GRCm39)	F112I	probably damaging	Het
Emilin1	C	T	5: 31,075,082 (GRCm39)	P441L	possibly damaging	Het
F11	T	C	8: 45,705,184 (GRCm39)	D119G	possibly damaging	Het
Fat4	T	A	3: 39,050,048 (GRCm39)	V3970D	possibly damaging	Het
Fbxw5	C	A	2: 25,394,773 (GRCm39)	C222*	probably null	Het
Fn1	C	T	1: 71,653,102 (GRCm39)	G1296R	probably null	Het
Ghr	A	G	15: 3,349,507 (GRCm39)	V557A	probably benign	Het
Gm11568	A	G	11: 99,749,070 (GRCm39)	S92G	unknown	Het
Gpatch1	A	T	7: 34,988,103 (GRCm39)	S678T	probably benign	Het
Gpr155	A	G	2: 73,178,479 (GRCm39)		probably null	Het
Gucy2f	A	T	X: 140,899,269 (GRCm39)	M697K	probably benign	Het
Hecw1	T	C	13: 14,520,653 (GRCm39)	T195A	probably benign	Het
Hoxd1	A	G	2: 74,594,501 (GRCm39)	K252R	probably damaging	Het
Iqck	G	A	7: 118,498,880 (GRCm39)	D173N	possibly damaging	Het
Irf8	A	G	8: 121,480,266 (GRCm39)	E168G	probably damaging	Het
Kcnh1	T	G	1: 192,019,829 (GRCm39)	V358G	probably damaging	Het
Kifap3	T	A	1: 163,696,327 (GRCm39)	V652D	possibly damaging	Het
L3hypdh	T	C	12: 72,131,632 (GRCm39)	Y100C	possibly damaging	Het
Map4k1	T	A	7: 28,701,382 (GRCm39)	H729Q	probably damaging	Het
Marchf1	T	A	8: 66,840,151 (GRCm39)	N311K	probably benign	Het
Mier2	T	C	10: 79,380,368 (GRCm39)	I321V	probably damaging	Het
Mta1	C	T	12: 113,091,770 (GRCm39)	S291L	probably damaging	Het
Myh2	A	G	11: 67,081,184 (GRCm39)	K1267E	possibly damaging	Het
Nbea	A	T	3: 55,895,506 (GRCm39)		probably null	Het
Nexmif	T	G	X: 103,131,452 (GRCm39)	E155A	possibly damaging	Het
Nkpd1	A	G	7: 19,257,822 (GRCm39)	I534V	probably benign	Het
Nxph1	G	T	6: 9,247,746 (GRCm39)	C239F	probably damaging	Het
Odc1	A	G	12: 17,598,425 (GRCm39)	I189V	probably benign	Het
Or1n1	A	T	2: 36,750,113 (GRCm39)	N82K	probably damaging	Het
Or2t44	T	C	11: 58,677,492 (GRCm39)	V144A	probably benign	Het
Or5d41	A	G	2: 88,055,167 (GRCm39)	F70L	probably benign	Het
Or6c35	T	C	10: 129,169,326 (GRCm39)	I192T	probably benign	Het
Pcdhb15	T	C	18: 37,608,496 (GRCm39)	L576P	probably damaging	Het
Raph1	T	C	1: 60,537,659 (GRCm39)	D499G	probably damaging	Het
Rptor	T	A	11: 119,647,148 (GRCm39)	C246*	probably null	Het
Rtl1	T	C	12: 109,561,101 (GRCm39)	E246G	unknown	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc12a3	T	A	8: 95,059,915 (GRCm39)	I187N	possibly damaging	Het
Slc46a1	T	G	11: 78,357,249 (GRCm39)	S101A	probably benign	Het
Slc4a8	A	G	15: 100,705,283 (GRCm39)	M830V	probably benign	Het
Sned1	T	A	1: 93,209,364 (GRCm39)		probably null	Het
St3gal6	T	A	16: 58,309,332 (GRCm39)	E34D	possibly damaging	Het
Tcstv3	C	T	13: 120,779,190 (GRCm39)	Q30*	probably null	Het
Tex16	T	A	X: 111,030,838 (GRCm39)	D1112E	probably damaging	Het
Tmcc3	G	A	10: 94,414,777 (GRCm39)	V160I	probably damaging	Het
Tmf1	T	A	6: 97,140,547 (GRCm39)	L776F	probably damaging	Het
Tsr1	A	T	11: 74,795,653 (GRCm39)		probably null	Het
Tyrp1	A	T	4: 80,755,771 (GRCm39)	E180V	probably damaging	Het
Ubr3	T	C	2: 69,846,685 (GRCm39)	V1636A	probably benign	Het
Usp1	T	C	4: 98,818,079 (GRCm39)	L139P	probably damaging	Het
Vmn1r232	A	G	17: 21,134,465 (GRCm39)	L45P	probably benign	Het
Vmn1r49	G	A	6: 90,049,126 (GRCm39)	T292I	probably benign	Het
Wdr19	T	A	5: 65,398,334 (GRCm39)	M853K	possibly damaging	Het
Zkscan8	C	T	13: 21,705,966 (GRCm39)	M265I	probably benign	Het

Other mutations in 2300003K06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01066:2300003K06Rik	APN	11	99,728,454 (GRCm39)	nonsense	probably null
IGL02900:2300003K06Rik	APN	11	99,728,774 (GRCm39)	missense	possibly damaging	0.60
IGL03148:2300003K06Rik	APN	11	99,728,079 (GRCm39)	missense	unknown
R1445:2300003K06Rik	UTSW	11	99,728,793 (GRCm39)	missense	probably benign	0.03
R2054:2300003K06Rik	UTSW	11	99,728,562 (GRCm39)	missense	possibly damaging	0.71
R2273:2300003K06Rik	UTSW	11	99,728,667 (GRCm39)	missense	possibly damaging	0.93
R2275:2300003K06Rik	UTSW	11	99,728,667 (GRCm39)	missense	possibly damaging	0.93
R5153:2300003K06Rik	UTSW	11	99,728,073 (GRCm39)	missense	unknown
R5901:2300003K06Rik	UTSW	11	99,728,163 (GRCm39)	missense	unknown
R6218:2300003K06Rik	UTSW	11	99,728,730 (GRCm39)	missense	probably benign	0.28
R6224:2300003K06Rik	UTSW	11	99,728,840 (GRCm39)	start codon destroyed	probably null	0.09

Predicted Primers

PCR Primer
(F):5'- ACAGCTGGGTCTGTAATAGCTAG -3'
(R):5'- CATGGTCAGCTCCTGTTGTG -3'

Sequencing Primer
(F):5'- CTGGGTCTGTAATAGCTAGATCCAC -3'
(R):5'- CAGCTCCTGTTGTGGCTCTG -3'

Posted On

2014-10-30