Mutagenetix > Incidental Mutation

Incidental Mutation 'R0838:2310057M21Rik'

78041

Institutional Source

Beutler Lab

Gene Symbol

2310057M21Rik

Ensembl Gene

ENSMUSG00000040177

Gene Name

RIKEN cDNA 2310057M21 gene

Synonyms

MMRRC Submission

039017-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R0838 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130943340-130964570 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 130963535 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 53 (M53L)

Ref Sequence

ENSEMBL: ENSMUSP00000147242 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059438] [ENSMUST00000124096] [ENSMUST00000207305] [ENSMUST00000207354] [ENSMUST00000208526]

AlphaFold

Q9D2Q3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059438
AA Change: M99L

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000050128
Gene: ENSMUSG00000040177
AA Change: M99L

Domain	Start	End	E-Value	Type
Pfam:DUF4506	59	198	1.8e-60	PFAM
low complexity region	320	328	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000207305
AA Change: M104L

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably damaging
Transcript: ENSMUST00000207354
AA Change: M53L

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208509

Predicted Effect

possibly damaging
Transcript: ENSMUST00000208526
AA Change: M99L

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.1007

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 94.3%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	A	G	13: 104,550,297 (GRCm39)	N638D	possibly damaging	Het
Amy2b	T	C	3: 113,058,317 (GRCm39)		noncoding transcript	Het
Ap5s1	G	A	2: 131,053,351 (GRCm39)	R45K	probably damaging	Het
Arap1	T	C	7: 101,049,619 (GRCm39)	Y994H	probably damaging	Het
Arrdc3	A	T	13: 81,037,366 (GRCm39)		probably benign	Het
Bard1	G	A	1: 71,069,812 (GRCm39)	T722M	probably damaging	Het
Ccdc88a	A	G	11: 29,350,285 (GRCm39)	Y89C	probably damaging	Het
Cd96	A	G	16: 45,938,289 (GRCm39)	S59P	probably damaging	Het
Chit1	T	A	1: 134,071,075 (GRCm39)	C51*	probably null	Het
Cilp2	G	T	8: 70,334,369 (GRCm39)	H876Q	probably benign	Het
Cyld	A	G	8: 89,467,978 (GRCm39)	E722G	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dedd2	T	C	7: 24,910,612 (GRCm39)	E188G	probably benign	Het
Dnah17	A	T	11: 117,950,930 (GRCm39)	W2898R	probably damaging	Het
Dpy19l1	T	C	9: 24,343,727 (GRCm39)	T473A	probably damaging	Het
Fam228a	T	A	12: 4,785,002 (GRCm39)	H43L	possibly damaging	Het
Fkbp15	G	T	4: 62,242,363 (GRCm39)	H530N	probably damaging	Het
Gga1	C	T	15: 78,776,118 (GRCm39)	S387L	probably damaging	Het
Gm4868	A	G	5: 125,925,687 (GRCm39)		noncoding transcript	Het
Guk1	G	A	11: 59,075,921 (GRCm39)	R146C	probably damaging	Het
Itgb4	A	C	11: 115,888,988 (GRCm39)		probably benign	Het
Jag1	G	A	2: 136,935,198 (GRCm39)	T388I	probably damaging	Het
Kcnh1	A	G	1: 192,095,514 (GRCm39)	D551G	probably damaging	Het
Lrp2bp	A	G	8: 46,478,161 (GRCm39)	D270G	possibly damaging	Het
Map3k19	C	A	1: 127,751,696 (GRCm39)	V552F	probably benign	Het
Mixl1	A	T	1: 180,524,365 (GRCm39)	D71E	probably benign	Het
Myocd	A	G	11: 65,069,758 (GRCm39)	I694T	probably benign	Het
Nadk2	T	A	15: 9,091,322 (GRCm39)	S198T	probably benign	Het
Npepps	A	T	11: 97,158,518 (GRCm39)		probably benign	Het
Nt5c1b	C	T	12: 10,425,071 (GRCm39)	Q206*	probably null	Het
Or51b17	T	A	7: 103,542,622 (GRCm39)	I107F	probably benign	Het
Orm1	A	G	4: 63,263,394 (GRCm39)	Y69C	probably damaging	Het
Plscr4	T	A	9: 92,353,813 (GRCm39)		probably benign	Het
Pon1	G	A	6: 5,175,758 (GRCm39)	T188I	possibly damaging	Het
Ppm1a	T	A	12: 72,831,094 (GRCm39)	H206Q	probably benign	Het
Prl8a1	G	A	13: 27,758,008 (GRCm39)	R234C	probably damaging	Het
Rfx3	C	T	19: 27,827,367 (GRCm39)	R73Q	possibly damaging	Het
Rims2	T	C	15: 39,544,421 (GRCm39)	V1466A	probably benign	Het
Sec24d	T	A	3: 123,099,485 (GRCm39)	F319L	probably benign	Het
Slc15a4	A	G	5: 127,694,067 (GRCm39)	S123P	possibly damaging	Het
Slc1a6	A	T	10: 78,632,056 (GRCm39)	D294V	probably damaging	Het
Slc28a3	A	T	13: 58,736,083 (GRCm39)	D38E	probably benign	Het
Spata31d1e	A	G	13: 59,890,282 (GRCm39)	S513P	possibly damaging	Het
Stard3nl	A	G	13: 19,556,756 (GRCm39)		probably null	Het
Stard9	A	G	2: 120,531,323 (GRCm39)	T2527A	probably damaging	Het
Sult3a1	C	T	10: 33,755,284 (GRCm39)	P283L	probably damaging	Het
Tgtp1	A	G	11: 48,877,970 (GRCm39)	V245A	probably benign	Het
Txndc16	T	C	14: 45,402,876 (GRCm39)		probably benign	Het
Zdhhc8	A	G	16: 18,042,430 (GRCm39)	L590S	probably damaging	Het
Zfp1005	T	A	2: 150,111,220 (GRCm39)	C637S	possibly damaging	Het
Zfp366	A	G	13: 99,365,118 (GRCm39)	E93G	possibly damaging	Het
Zfp69	T	C	4: 120,788,478 (GRCm39)	N279S	probably benign	Het
Zscan10	T	C	17: 23,829,008 (GRCm39)	S407P	possibly damaging	Het

Other mutations in 2310057M21Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01769:2310057M21Rik	APN	7	130,959,215 (GRCm39)	missense	probably benign	0.13
R0600:2310057M21Rik	UTSW	7	130,959,389 (GRCm39)	missense	probably damaging	1.00
R1703:2310057M21Rik	UTSW	7	130,945,431 (GRCm39)	nonsense	probably null
R2073:2310057M21Rik	UTSW	7	130,959,242 (GRCm39)	missense	probably benign	0.00
R2206:2310057M21Rik	UTSW	7	130,964,331 (GRCm39)	missense	probably benign	0.02
R4575:2310057M21Rik	UTSW	7	130,964,325 (GRCm39)	missense	probably benign	0.13
R4620:2310057M21Rik	UTSW	7	130,945,335 (GRCm39)	nonsense	probably null
R4704:2310057M21Rik	UTSW	7	130,959,259 (GRCm39)	missense	probably damaging	0.99
R4947:2310057M21Rik	UTSW	7	130,959,343 (GRCm39)	missense	probably damaging	1.00
R5512:2310057M21Rik	UTSW	7	130,952,389 (GRCm39)	missense	possibly damaging	0.90
R6137:2310057M21Rik	UTSW	7	130,959,342 (GRCm39)	missense	probably damaging	1.00
R7227:2310057M21Rik	UTSW	7	130,952,449 (GRCm39)	missense	probably damaging	1.00
R7748:2310057M21Rik	UTSW	7	130,963,521 (GRCm39)	missense	probably benign	0.04
R7940:2310057M21Rik	UTSW	7	130,952,767 (GRCm39)	missense	probably benign
X0062:2310057M21Rik	UTSW	7	130,952,411 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- AAGCTTGCTCATCAACCCTGCC -3'
(R):5'- TGAATGCCCTGACGCCTCAAAC -3'

Sequencing Primer
(F):5'- ATCAACCCTGCCGTTGGAAG -3'
(R):5'- TTTACCTGAACTGTGGCCCT -3'

Posted On

2013-10-16