Mutagenetix > Incidental Mutation

Incidental Mutation 'R0271:4930544D05Rik'

35311

Institutional Source

Beutler Lab

Gene Symbol

4930544D05Rik

Ensembl Gene

ENSMUSG00000087279

Gene Name

RIKEN cDNA 4930544D05 gene

Synonyms

MMRRC Submission

038497-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R0271 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70506674-70507716 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70507474 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 173 (Q173R)

Ref Sequence

ENSEMBL: ENSMUSP00000137259 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014753] [ENSMUST00000072237] [ENSMUST00000072873] [ENSMUST00000079244] [ENSMUST00000102556] [ENSMUST00000102558] [ENSMUST00000102559] [ENSMUST00000180052] [ENSMUST00000144960] [ENSMUST00000135865]

AlphaFold

J3QK56

Predicted Effect

probably benign
Transcript: ENSMUST00000014753

SMART Domains

Protein: ENSMUSP00000014753
Gene: ENSMUSG00000014609

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Neur_chan_LBD	24	240	2.9e-65	PFAM
Pfam:Neur_chan_memb	247	475	6.5e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000072237

SMART Domains

Protein: ENSMUSP00000072091
Gene: ENSMUSG00000020827

Domain	Start	End	E-Value	Type
S_TKc	25	289	1.86e-91	SMART
low complexity region	307	338	N/A	INTRINSIC
coiled coil region	351	496	N/A	INTRINSIC
low complexity region	557	569	N/A	INTRINSIC
low complexity region	620	633	N/A	INTRINSIC
low complexity region	646	659	N/A	INTRINSIC
low complexity region	719	738	N/A	INTRINSIC
low complexity region	837	874	N/A	INTRINSIC
CNH	1026	1324	1.58e-113	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000072873

SMART Domains

Protein: ENSMUSP00000072649
Gene: ENSMUSG00000020827

Domain	Start	End	E-Value	Type
S_TKc	25	289	1.86e-91	SMART
low complexity region	307	338	N/A	INTRINSIC
coiled coil region	351	496	N/A	INTRINSIC
low complexity region	557	569	N/A	INTRINSIC
low complexity region	620	633	N/A	INTRINSIC
low complexity region	646	659	N/A	INTRINSIC
low complexity region	719	738	N/A	INTRINSIC
low complexity region	829	853	N/A	INTRINSIC
CNH	1019	1317	1.58e-113	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000079244

SMART Domains

Protein: ENSMUSP00000078234
Gene: ENSMUSG00000020827

Domain	Start	End	E-Value	Type
S_TKc	25	289	1.86e-91	SMART
low complexity region	314	338	N/A	INTRINSIC
coiled coil region	348	493	N/A	INTRINSIC
low complexity region	554	566	N/A	INTRINSIC
low complexity region	617	630	N/A	INTRINSIC
low complexity region	643	656	N/A	INTRINSIC
low complexity region	716	735	N/A	INTRINSIC
low complexity region	826	850	N/A	INTRINSIC
CNH	1016	1314	1.58e-113	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102556

SMART Domains

Protein: ENSMUSP00000099616
Gene: ENSMUSG00000014609

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Neur_chan_LBD	24	240	5.4e-65	PFAM
Pfam:Neur_chan_memb	247	474	2.9e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102558

SMART Domains

Protein: ENSMUSP00000099618
Gene: ENSMUSG00000020827

Domain	Start	End	E-Value	Type
S_TKc	25	289	1.86e-91	SMART
low complexity region	307	338	N/A	INTRINSIC
coiled coil region	351	496	N/A	INTRINSIC
low complexity region	557	569	N/A	INTRINSIC
low complexity region	620	633	N/A	INTRINSIC
low complexity region	646	659	N/A	INTRINSIC
low complexity region	792	816	N/A	INTRINSIC
CNH	982	1280	1.58e-113	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102559

SMART Domains

Protein: ENSMUSP00000099619
Gene: ENSMUSG00000020827

Domain	Start	End	E-Value	Type
S_TKc	25	289	1.86e-91	SMART
low complexity region	307	338	N/A	INTRINSIC
coiled coil region	351	496	N/A	INTRINSIC
low complexity region	557	569	N/A	INTRINSIC
low complexity region	620	633	N/A	INTRINSIC
low complexity region	646	659	N/A	INTRINSIC
low complexity region	800	824	N/A	INTRINSIC
CNH	990	1288	1.58e-113	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000180052
AA Change: Q173R

PolyPhen 2 Score 0.617 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000137259
Gene: ENSMUSG00000087279
AA Change: Q173R

Domain	Start	End	E-Value	Type
low complexity region	29	40	N/A	INTRINSIC
low complexity region	119	130	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135920

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134836

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125387

Predicted Effect

probably benign
Transcript: ENSMUST00000136663

SMART Domains

Protein: ENSMUSP00000117959
Gene: ENSMUSG00000020827

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	1	140	2.3e-22	PFAM
Pfam:Pkinase	1	143	1.6e-30	PFAM
low complexity region	161	192	N/A	INTRINSIC
coiled coil region	204	349	N/A	INTRINSIC
low complexity region	411	423	N/A	INTRINSIC
low complexity region	474	487	N/A	INTRINSIC
low complexity region	500	513	N/A	INTRINSIC
low complexity region	573	592	N/A	INTRINSIC
low complexity region	691	728	N/A	INTRINSIC
CNH	880	1178	1.58e-113	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144960

SMART Domains

Protein: ENSMUSP00000136077
Gene: ENSMUSG00000087279

Domain	Start	End	E-Value	Type
low complexity region	29	40	N/A	INTRINSIC
low complexity region	119	130	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135865

SMART Domains

Protein: ENSMUSP00000135933
Gene: ENSMUSG00000087279

Domain	Start	End	E-Value	Type
low complexity region	29	40	N/A	INTRINSIC
low complexity region	101	107	N/A	INTRINSIC

Meta Mutation Damage Score

0.0707

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.2%
20x: 90.6%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ampd2	C	T	3: 107,994,032 (GRCm39)		probably benign	Het
Ankrd17	T	C	5: 90,402,658 (GRCm39)	S1467G	possibly damaging	Het
Arhgap31	T	G	16: 38,422,872 (GRCm39)	S1065R	possibly damaging	Het
Arhgef19	G	T	4: 140,977,918 (GRCm39)	M542I	probably benign	Het
C7	T	C	15: 5,044,862 (GRCm39)	D392G	possibly damaging	Het
Ccdc138	G	A	10: 58,411,645 (GRCm39)	C671Y	probably damaging	Het
Cdh8	A	G	8: 99,838,347 (GRCm39)	S498P	possibly damaging	Het
Cpb2	T	A	14: 75,495,149 (GRCm39)		probably null	Het
Cwc22	A	C	2: 77,751,202 (GRCm39)	N389K	probably benign	Het
Dgkb	T	A	12: 38,278,025 (GRCm39)	L550Q	probably damaging	Het
Dip2c	A	G	13: 9,665,811 (GRCm39)	R950G	probably damaging	Het
Eml6	A	G	11: 29,798,949 (GRCm39)	V437A	possibly damaging	Het
Fanca	T	C	8: 123,999,180 (GRCm39)		probably benign	Het
Fgd2	C	G	17: 29,585,982 (GRCm39)	L189V	possibly damaging	Het
Foxred2	A	C	15: 77,827,590 (GRCm39)	S590A	possibly damaging	Het
Gm1110	A	G	9: 26,831,962 (GRCm39)	F63S	probably damaging	Het
Gm14496	A	T	2: 181,637,747 (GRCm39)	M274L	probably benign	Het
Gm7008	T	A	12: 40,273,559 (GRCm39)		probably benign	Het
Gm9922	T	A	14: 101,966,989 (GRCm39)		probably benign	Het
Gtf3c3	A	T	1: 54,467,971 (GRCm39)	M222K	possibly damaging	Het
Hspa1b	A	G	17: 35,177,808 (GRCm39)	V59A	probably benign	Het
Impg1	T	C	9: 80,294,161 (GRCm39)		probably benign	Het
Khdc4	T	C	3: 88,593,636 (GRCm39)		probably benign	Het
Lpcat4	T	A	2: 112,073,590 (GRCm39)		probably null	Het
Mipol1	T	C	12: 57,507,740 (GRCm39)		probably benign	Het
Mrpl37	C	A	4: 106,923,658 (GRCm39)	R112L	possibly damaging	Het
Myo18b	T	C	5: 112,957,551 (GRCm39)	N1471D	possibly damaging	Het
Nes	G	A	3: 87,885,949 (GRCm39)	E1359K	possibly damaging	Het
Nipbl	A	T	15: 8,391,221 (GRCm39)	V251E	possibly damaging	Het
Nlrp1b	T	C	11: 71,052,591 (GRCm39)	I946V	possibly damaging	Het
Obscn	T	G	11: 58,947,568 (GRCm39)		probably benign	Het
Or10q1b	A	T	19: 13,682,499 (GRCm39)	T103S	probably benign	Het
Or4a2	T	A	2: 89,248,502 (GRCm39)	Y85F	probably benign	Het
Or51q1	T	A	7: 103,628,837 (GRCm39)	I146K	possibly damaging	Het
Or5m12	A	T	2: 85,734,633 (GRCm39)	M255K	possibly damaging	Het
Pck2	T	C	14: 55,782,041 (GRCm39)		probably null	Het
Pcsk9	A	G	4: 106,306,246 (GRCm39)		probably benign	Het
Phyhd1	A	T	2: 30,159,834 (GRCm39)	Q56L	probably benign	Het
Plxnc1	C	T	10: 94,673,780 (GRCm39)	G1001S	probably null	Het
Prss52	T	C	14: 64,351,127 (GRCm39)	V304A	probably benign	Het
Prss55	C	T	14: 64,313,056 (GRCm39)	G276D	probably benign	Het
Pzp	A	T	6: 128,496,477 (GRCm39)	Y252N	probably damaging	Het
Rad1	T	C	15: 10,490,543 (GRCm39)		probably null	Het
Ripply3	A	T	16: 94,136,616 (GRCm39)	E92D	possibly damaging	Het
Rpp30	T	A	19: 36,081,803 (GRCm39)	D255E	probably benign	Het
Rsad1	T	C	11: 94,439,290 (GRCm39)		probably benign	Het
Serpini2	A	G	3: 75,153,885 (GRCm39)	M358T	probably damaging	Het
Slc35a1	T	A	4: 34,664,125 (GRCm39)	E331V	probably benign	Het
Slc38a7	A	G	8: 96,572,506 (GRCm39)	F179L	probably damaging	Het
Stmn4	C	T	14: 66,593,732 (GRCm39)	Q42*	probably null	Het
Sytl2	T	C	7: 90,052,228 (GRCm39)		probably benign	Het
Tab2	G	A	10: 7,794,922 (GRCm39)	A520V	probably benign	Het
Tcp10a	A	G	17: 7,598,555 (GRCm39)	I162M	probably benign	Het
Tmprss13	A	G	9: 45,244,986 (GRCm39)		probably benign	Het
Tnfrsf14	A	G	4: 155,011,054 (GRCm39)		probably null	Het
Tpx2	A	G	2: 152,709,287 (GRCm39)		probably benign	Het
Vmn2r105	T	A	17: 20,454,965 (GRCm39)	N57I	probably damaging	Het
Wars1	C	T	12: 108,841,119 (GRCm39)	V220I	probably benign	Het
Washc1	T	A	17: 66,423,714 (GRCm39)	D212E	possibly damaging	Het
Wdr17	C	T	8: 55,146,131 (GRCm39)	A90T	possibly damaging	Het
Wdr43	A	G	17: 71,933,820 (GRCm39)	D139G	probably benign	Het
Zfp235	A	T	7: 23,836,556 (GRCm39)	H34L	possibly damaging	Het
Zkscan16	G	A	4: 58,952,391 (GRCm39)	V230I	probably benign	Het

Other mutations in 4930544D05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02216:4930544D05Rik	APN	11	70,507,005 (GRCm39)	missense	possibly damaging	0.90
E0370:4930544D05Rik	UTSW	11	70,507,252 (GRCm39)	frame shift	probably null
R1887:4930544D05Rik	UTSW	11	70,507,249 (GRCm39)	missense	probably damaging	0.98
R5066:4930544D05Rik	UTSW	11	70,507,417 (GRCm39)	missense	probably benign	0.17
R6119:4930544D05Rik	UTSW	11	70,507,317 (GRCm39)	missense	probably damaging	0.99
R6959:4930544D05Rik	UTSW	11	70,507,485 (GRCm39)	missense	probably damaging	1.00
R8131:4930544D05Rik	UTSW	11	70,506,834 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GCCCATATGCCCCAATGTAGATCTC -3'
(R):5'- TGTAGCCAAAGAAGGCTTGCATAGG -3'

Sequencing Primer
(F):5'- CAATGTAGATCTCGGCCCTGTG -3'
(R):5'- GACAGTGATGGATTATCTGTTCCCC -3'

Posted On

2013-05-09