Mutagenetix > Incidental Mutation

Incidental Mutation 'R6000:2310034C09Rik'

480811

Institutional Source

Beutler Lab

Gene Symbol

2310034C09Rik

Ensembl Gene

ENSMUSG00000068078

Gene Name

RIKEN cDNA 2310034C09 gene

Synonyms

MMRRC Submission

044179-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R6000 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88555735-88556677 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88556427 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 214 (C214R)

Ref Sequence

ENSEMBL: ENSMUSP00000140130 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089111]

AlphaFold

Q9D746

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089111
AA Change: C214R

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140130
Gene: ENSMUSG00000068078
AA Change: C214R

Domain	Start	End	E-Value	Type
Pfam:PMG	1	87	7.7e-29	PFAM
Pfam:Keratin_B2_2	54	104	1.4e-7	PFAM
Pfam:PMG	84	209	1.3e-43	PFAM
Pfam:Keratin_B2_2	85	139	3.9e-5	PFAM

Meta Mutation Damage Score

0.4836

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.7%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	T	19: 8,990,475 (GRCm39)	K3920*	probably null	Het
Alox12b	A	G	11: 69,060,394 (GRCm39)	D650G	probably damaging	Het
Amt	A	T	9: 108,178,684 (GRCm39)	Y400F	probably benign	Het
Ankrd11	A	G	8: 123,617,934 (GRCm39)	S1973P	possibly damaging	Het
Aoc1	A	T	6: 48,884,573 (GRCm39)	T539S	probably benign	Het
Arhgap44	CTGCT	CTGCTTGCT	11: 64,922,910 (GRCm39)		probably null	Het
Ccdc15	C	T	9: 37,227,060 (GRCm39)	G292S	probably benign	Het
Ccdc162	C	T	10: 41,437,159 (GRCm39)	C287Y	possibly damaging	Het
Ccn6	T	C	10: 39,034,296 (GRCm39)	Y102C	probably damaging	Het
Cdk15	G	A	1: 59,328,818 (GRCm39)	G244D	probably damaging	Het
Cep290	T	A	10: 100,377,649 (GRCm39)	Y1560N	probably damaging	Het
Cfap251	A	G	5: 123,392,435 (GRCm39)		probably benign	Het
Cic	A	C	7: 24,971,423 (GRCm39)	I385L	probably benign	Het
Cobl	A	T	11: 12,319,684 (GRCm39)	F231L	probably benign	Het
Cpeb1	T	C	7: 81,011,428 (GRCm39)	D171G	possibly damaging	Het
Csnk1g2	T	A	10: 80,474,778 (GRCm39)	V305E	probably damaging	Het
Cyp2c29	A	G	19: 39,296,050 (GRCm39)		probably null	Het
Dner	A	T	1: 84,361,650 (GRCm39)	M653K	possibly damaging	Het
Dst	T	A	1: 34,251,304 (GRCm39)	M4311K	possibly damaging	Het
Ep400	A	G	5: 110,831,067 (GRCm39)	S2200P	unknown	Het
Ephb2	A	T	4: 136,411,341 (GRCm39)	S440T	possibly damaging	Het
Ercc1	A	T	7: 19,081,086 (GRCm39)		probably benign	Het
Folh1	T	A	7: 86,375,142 (GRCm39)	N615Y	probably benign	Het
Gm7298	T	C	6: 121,742,038 (GRCm39)	Y487H	possibly damaging	Het
Gucy1b2	A	T	14: 62,656,499 (GRCm39)	I286N	probably benign	Het
Hr	A	G	14: 70,805,273 (GRCm39)	D1005G	probably damaging	Het
Ifrd1	C	A	12: 40,266,243 (GRCm39)	V117F	possibly damaging	Het
Ift140	A	T	17: 25,255,934 (GRCm39)	T210S	probably benign	Het
Igll1	C	A	16: 16,681,805 (GRCm39)		probably benign	Het
Ino80	G	T	2: 119,204,989 (GRCm39)	S1512R	probably benign	Het
Intu	A	T	3: 40,608,578 (GRCm39)	K197*	probably null	Het
Kdm6b	A	G	11: 69,294,424 (GRCm39)	L1216P	unknown	Het
Klrb1c	T	G	6: 128,761,120 (GRCm39)	D169A	probably damaging	Het
Lamp3	T	A	16: 19,519,698 (GRCm39)	T162S	possibly damaging	Het
Mapk10	G	A	5: 103,114,342 (GRCm39)	P319S	probably damaging	Het
Mapk10	G	A	5: 103,114,341 (GRCm39)	P319L	probably damaging	Het
Mical3	T	C	6: 120,998,281 (GRCm39)	T702A	probably benign	Het
Mstn	C	T	1: 53,100,828 (GRCm39)		probably benign	Het
Nckap1l	T	C	15: 103,387,242 (GRCm39)	S706P	probably benign	Het
Nckap5l	G	A	15: 99,324,766 (GRCm39)	T579I	probably damaging	Het
Or13p3	A	T	4: 118,567,441 (GRCm39)	N279I	probably damaging	Het
Or4a27	C	A	2: 88,559,575 (GRCm39)	A123S	probably damaging	Het
Or8s16	G	A	15: 98,211,317 (GRCm39)	T38I	probably benign	Het
Pcdh18	A	C	3: 49,708,913 (GRCm39)	S801A	probably damaging	Het
Pde11a	A	T	2: 75,848,204 (GRCm39)	D874E	probably damaging	Het
Pfdn6	G	T	17: 34,158,589 (GRCm39)	P62T	probably damaging	Het
Pkd1l1	A	G	11: 8,900,427 (GRCm39)	I38T	probably benign	Het
Prkdc	A	T	16: 15,647,561 (GRCm39)	I3662F	possibly damaging	Het
Psg26	A	T	7: 18,216,617 (GRCm39)	L74*	probably null	Het
Rassf6	A	G	5: 90,751,736 (GRCm39)	V341A	probably damaging	Het
Rsad2	C	A	12: 26,497,150 (GRCm39)		probably null	Het
Rwdd3	A	G	3: 120,950,162 (GRCm39)	Y95H	probably damaging	Het
Scfd1	A	G	12: 51,492,457 (GRCm39)	I589V	possibly damaging	Het
Sgsm1	A	T	5: 113,434,704 (GRCm39)	I131N	probably damaging	Het
Tecpr1	A	G	5: 144,148,239 (GRCm39)	S389P	probably benign	Het
Tle3	T	A	9: 61,281,296 (GRCm39)	I29N	probably damaging	Het
Tmem63c	C	A	12: 87,103,971 (GRCm39)	N73K	probably damaging	Het
Tpm2	T	A	4: 43,518,301 (GRCm39)		probably null	Het
Trak2	A	T	1: 58,950,971 (GRCm39)	D405E	possibly damaging	Het
Ttn	C	A	2: 76,575,516 (GRCm39)	A23380S	probably damaging	Het
Ttn	A	T	2: 76,715,495 (GRCm39)		probably benign	Het
Tub	T	C	7: 108,628,857 (GRCm39)	S391P	probably damaging	Het
Ush2a	G	T	1: 187,999,223 (GRCm39)	E178*	probably null	Het
Vamp9	G	T	5: 100,089,226 (GRCm39)	A164S	probably benign	Het
Ylpm1	C	A	12: 85,044,030 (GRCm39)	T256K	unknown	Het
Zfp1007	A	G	5: 109,824,730 (GRCm39)	V240A	probably benign	Het

Other mutations in 2310034C09Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2143:2310034C09Rik	UTSW	16	88,556,053 (GRCm39)	missense	probably benign
R4500:2310034C09Rik	UTSW	16	88,556,429 (GRCm39)	nonsense	probably null
R5539:2310034C09Rik	UTSW	16	88,555,917 (GRCm39)	missense	probably damaging	1.00
R5559:2310034C09Rik	UTSW	16	88,555,981 (GRCm39)	missense	unknown
R5604:2310034C09Rik	UTSW	16	88,556,278 (GRCm39)	missense	possibly damaging	0.65
R6641:2310034C09Rik	UTSW	16	88,555,974 (GRCm39)	missense	unknown
R7199:2310034C09Rik	UTSW	16	88,555,902 (GRCm39)	missense	probably damaging	0.98
R7436:2310034C09Rik	UTSW	16	88,556,242 (GRCm39)	missense	probably benign	0.44
R7596:2310034C09Rik	UTSW	16	88,556,224 (GRCm39)	missense	probably damaging	0.99
R7682:2310034C09Rik	UTSW	16	88,556,373 (GRCm39)	missense	probably benign	0.00
R7947:2310034C09Rik	UTSW	16	88,555,938 (GRCm39)	missense	probably benign	0.00
R8049:2310034C09Rik	UTSW	16	88,555,992 (GRCm39)	missense	probably benign
R8337:2310034C09Rik	UTSW	16	88,556,151 (GRCm39)	missense	probably damaging	1.00
R8434:2310034C09Rik	UTSW	16	88,556,260 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTAGAAGCTGCTACTCAGTGGG -3'
(R):5'- CAGATTGCACAAGTTTATTGGATGG -3'

Sequencing Primer
(F):5'- GGTATGGAAATAGTGGCTTCAGACC -3'
(R):5'- CAATTTTCAAATGACCTTGGGTTG -3'

Posted On

2017-06-26