Mutagenetix > Incidental Mutation

Incidental Mutation 'R6875:6030458C11Rik'

536394

Institutional Source

Beutler Lab

Gene Symbol

6030458C11Rik

Ensembl Gene

ENSMUSG00000022195

Gene Name

RIKEN cDNA 6030458C11 gene

Synonyms

MMRRC Submission

044971-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.308) question?

Stock #

R6875 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12808263-12824735 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12812154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 270 (H270R)

Ref Sequence

ENSEMBL: ENSMUSP00000154605 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057256] [ENSMUST00000227299] [ENSMUST00000228177]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000057256
AA Change: H354R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055656
Gene: ENSMUSG00000022195
AA Change: H354R

Domain	Start	End	E-Value	Type
Pfam:UPF0489	19	256	7.2e-57	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000227299
AA Change: H270R

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228177
AA Change: H253R

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	C	5: 8,751,628 (GRCm39)	I336T	probably benign	Het
Adam19	T	A	11: 46,003,702 (GRCm39)	F177I	probably benign	Het
Ankrd53	T	C	6: 83,745,155 (GRCm39)	V455A	probably damaging	Het
Arrdc1	A	G	2: 24,815,677 (GRCm39)	S415P	probably benign	Het
Atp10a	T	C	7: 58,447,100 (GRCm39)	L614P	probably benign	Het
Catsper1	G	T	19: 5,393,991 (GRCm39)	V668F	probably damaging	Het
Cluh	T	A	11: 74,552,744 (GRCm39)	D596E	probably damaging	Het
Cnot10	A	G	9: 114,444,175 (GRCm39)	S407P	probably benign	Het
Commd6	T	C	14: 101,871,786 (GRCm39)	T86A	probably damaging	Het
D5Ertd579e	A	T	5: 36,762,001 (GRCm39)		probably null	Het
Eif3l	A	G	15: 78,969,760 (GRCm39)	D252G	probably damaging	Het
Epha2	A	T	4: 141,055,779 (GRCm39)	S962C	probably damaging	Het
Fcho1	C	A	8: 72,167,069 (GRCm39)		probably null	Het
Fgf23	G	T	6: 127,050,179 (GRCm39)	G63C	probably damaging	Het
Flnc	A	T	6: 29,445,748 (GRCm39)	Y834F	probably damaging	Het
Gcn1	T	C	5: 115,726,169 (GRCm39)	L608P	probably damaging	Het
Hdac5	T	A	11: 102,093,102 (GRCm39)	E545V	probably damaging	Het
Hecw2	A	T	1: 53,976,291 (GRCm39)	M166K	probably benign	Het
Ikbkb	T	C	8: 23,155,909 (GRCm39)	D586G	probably damaging	Het
Il36g	G	C	2: 24,078,633 (GRCm39)		probably null	Het
Ipo13	A	T	4: 117,762,108 (GRCm39)	I422N	possibly damaging	Het
Iqgap3	GGAGAG	GGAG	3: 88,020,078 (GRCm39)		probably null	Het
Kat6a	G	A	8: 23,422,377 (GRCm39)	A896T	probably benign	Het
Kif28	A	G	1: 179,563,559 (GRCm39)	I139T	probably damaging	Het
Klhl25	A	G	7: 75,516,090 (GRCm39)	E332G	probably damaging	Het
Krt8	C	T	15: 101,906,343 (GRCm39)	A389T	probably benign	Het
Msrb3	T	C	10: 120,620,011 (GRCm39)	S175G	probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Myo10	T	C	15: 25,805,745 (GRCm39)	Y1709H	probably benign	Het
Nckap5	A	G	1: 125,950,931 (GRCm39)	S1519P	probably benign	Het
Npnt	T	A	3: 132,615,671 (GRCm39)	D124V	probably damaging	Het
Nr1d1	A	T	11: 98,661,662 (GRCm39)		probably null	Het
Ogdh	A	G	11: 6,290,477 (GRCm39)	Y365C	probably benign	Het
Or4f56	A	T	2: 111,703,306 (GRCm39)	I298N	possibly damaging	Het
Phf21b	A	T	15: 84,671,647 (GRCm39)	C416S	probably damaging	Het
Prpsap1	A	G	11: 116,362,264 (GRCm39)	S373P	probably damaging	Het
Qrfprl	A	T	6: 65,433,320 (GRCm39)	N380I	probably benign	Het
Rab28	T	C	5: 41,860,877 (GRCm39)	T26A	probably damaging	Het
Rbbp8nl	A	G	2: 179,921,019 (GRCm39)	I455T	probably benign	Het
Rnft2	G	A	5: 118,366,883 (GRCm39)	A285V	possibly damaging	Het
Rrp36	G	T	17: 46,983,297 (GRCm39)	Q106K	probably benign	Het
Rsf1	CG	CGACGGCGGAG	7: 97,229,115 (GRCm39)		probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scn5a	A	G	9: 119,315,710 (GRCm39)	L1666P	probably damaging	Het
Siglecf	A	C	7: 43,004,624 (GRCm39)	T318P	probably benign	Het
Slc22a1	C	T	17: 12,886,192 (GRCm39)	W147*	probably null	Het
Smchd1	T	C	17: 71,660,501 (GRCm39)	I1868V	probably damaging	Het
Snx21	A	G	2: 164,633,822 (GRCm39)	S203G	probably damaging	Het
Srl	T	C	16: 4,300,695 (GRCm39)	K792R	probably benign	Het
Srrt	A	G	5: 137,296,935 (GRCm39)	F100S	probably benign	Het
Stard9	G	T	2: 120,527,917 (GRCm39)	M1391I	probably benign	Het
Syne2	A	G	12: 76,082,404 (GRCm39)	E119G	probably damaging	Het
Syt11	G	T	3: 88,669,462 (GRCm39)	S143R	possibly damaging	Het
Tiparp	T	A	3: 65,439,063 (GRCm39)	H126Q	probably benign	Het
Tulp2	C	A	7: 45,168,038 (GRCm39)	T150K	probably benign	Het
Ugt2b37	T	A	5: 87,390,288 (GRCm39)	Y386F	probably benign	Het
Usp31	C	T	7: 121,248,863 (GRCm39)	W860*	probably null	Het
Zfp317	A	G	9: 19,554,961 (GRCm39)	R30G	probably damaging	Het
Zfp709	C	A	8: 72,642,851 (GRCm39)	N93K	possibly damaging	Het

Other mutations in 6030458C11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01412:6030458C11Rik	APN	15	12,815,958 (GRCm39)	nonsense	probably null
IGL02366:6030458C11Rik	APN	15	12,810,859 (GRCm39)	missense	probably benign	0.40
IGL02660:6030458C11Rik	APN	15	12,810,853 (GRCm39)	missense	probably damaging	1.00
R1869:6030458C11Rik	UTSW	15	12,817,993 (GRCm39)	missense	probably damaging	1.00
R5919:6030458C11Rik	UTSW	15	12,823,754 (GRCm39)	missense	probably damaging	1.00
R6853:6030458C11Rik	UTSW	15	12,818,031 (GRCm39)	missense	probably benign
R8013:6030458C11Rik	UTSW	15	12,824,615 (GRCm39)	missense	probably benign	0.15
R8014:6030458C11Rik	UTSW	15	12,824,615 (GRCm39)	missense	probably benign	0.15
R8460:6030458C11Rik	UTSW	15	12,818,545 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- GGTGAGTGGGGTTTAAAACACA -3'
(R):5'- AGACTCTATAGATGGTTCTCCTACG -3'

Sequencing Primer
(F):5'- CTAGGCATCCTGTGACAATACTG -3'
(R):5'- TGGAGCAAGCATTTCACTGC -3'

Posted On

2018-10-18