Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01769:2310057M21Rik'

153816

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

2310057M21Rik

Ensembl Gene

ENSMUSG00000040177

Gene Name

RIKEN cDNA 2310057M21 gene

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL01769

Quality Score

Status

Chromosome

Chromosomal Location

130943340-130964570 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 130959215 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 162 (M162L)

Ref Sequence

ENSEMBL: ENSMUSP00000147242 (fasta)

Gene Model

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

AlphaFold

Q9D2Q3

Predicted Effect

probably benign
Transcript: ENSMUST00000059438
AA Change: M208L

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000050128
Gene: ENSMUSG00000040177
AA Change: M208L

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

noncoding transcript
Transcript: ENSMUST00000207117

Predicted Effect

probably benign
Transcript: ENSMUST00000207305

Predicted Effect

probably benign
Transcript: ENSMUST00000207354
AA Change: M162L

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208509

Predicted Effect

probably benign
Transcript: ENSMUST00000208526
AA Change: M208L

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a1	A	T	19: 20,620,283 (GRCm39)	T487S	probably benign	Het
Bahcc1	T	C	11: 120,171,030 (GRCm39)		probably benign	Het
Cldn10	G	A	14: 119,111,129 (GRCm39)		probably benign	Het
Cntn3	G	A	6: 102,185,145 (GRCm39)	T657I	probably damaging	Het
Crb1	A	T	1: 139,264,806 (GRCm39)	I204K	probably damaging	Het
Crim1	C	A	17: 78,620,664 (GRCm39)	T368K	probably benign	Het
Csad	C	A	15: 102,088,516 (GRCm39)	V237L	probably benign	Het
Cyp39a1	T	G	17: 44,060,806 (GRCm39)	H451Q	possibly damaging	Het
Dclk2	T	C	3: 86,723,667 (GRCm39)	E376G	possibly damaging	Het
Dnah10	A	T	5: 124,842,008 (GRCm39)	Y1331F	possibly damaging	Het
Dnajc11	A	T	4: 152,063,759 (GRCm39)	I452L	probably damaging	Het
Dpf2	T	C	19: 5,962,810 (GRCm39)		probably benign	Het
Elovl2	A	C	13: 41,340,420 (GRCm39)	V225G	probably damaging	Het
Fancd2	T	A	6: 113,522,072 (GRCm39)	H222Q	possibly damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Flt4	C	T	11: 49,525,998 (GRCm39)		probably benign	Het
Foxp2	T	C	6: 15,409,834 (GRCm39)	V478A	possibly damaging	Het
H2-Q1	G	A	17: 35,542,505 (GRCm39)	V317M	probably benign	Het
Hrob	T	C	11: 102,146,422 (GRCm39)	C233R	probably benign	Het
Igkv3-5	G	A	6: 70,640,336 (GRCm39)		probably benign	Het
Isg20	G	A	7: 78,564,129 (GRCm39)	C12Y	probably damaging	Het
Itgb4	G	A	11: 115,879,752 (GRCm39)	V635I	probably damaging	Het
Nat8f5	G	A	6: 85,794,859 (GRCm39)	R34C	probably benign	Het
Or8d2	T	C	9: 38,759,629 (GRCm39)	V73A	probably benign	Het
Pramel7	A	G	2: 87,319,932 (GRCm39)	S454P	probably benign	Het
Rarb	T	A	14: 16,443,760 (GRCm38)	E176V	probably damaging	Het
Sema4a	T	A	3: 88,357,063 (GRCm39)	I303F	possibly damaging	Het
Slc25a24	G	A	3: 109,056,816 (GRCm39)	E110K	probably damaging	Het
Slc7a13	A	T	4: 19,839,527 (GRCm39)	I377L	probably benign	Het
Smim19	T	C	8: 22,953,393 (GRCm39)		probably null	Het
Tiam2	A	G	17: 3,477,565 (GRCm39)	Y596C	probably damaging	Het
Tlr1	A	T	5: 65,083,290 (GRCm39)	L429*	probably null	Het
Ubxn8	G	A	8: 34,119,406 (GRCm39)		probably benign	Het
Vmn2r108	C	A	17: 20,691,280 (GRCm39)	M414I	probably benign	Het
Vmn2r99	A	G	17: 19,600,377 (GRCm39)	N467S	probably damaging	Het
Zfp456	T	A	13: 67,515,272 (GRCm39)	T145S	probably benign	Het

Other mutations in 2310057M21Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0600:2310057M21Rik	UTSW	7	130,959,389 (GRCm39)	missense	probably damaging	1.00
R0838:2310057M21Rik	UTSW	7	130,963,535 (GRCm39)	missense	probably damaging	0.97
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

Posted On

2014-02-04