Mutagenetix > Incidental Mutation

Incidental Mutation 'R6959:4930544D05Rik'

541664

Institutional Source

Beutler Lab

Gene Symbol

4930544D05Rik

Ensembl Gene

ENSMUSG00000087279

Gene Name

RIKEN cDNA 4930544D05 gene

Synonyms

MMRRC Submission

045069-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R6959 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70506674-70507716 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70507485 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 177 (G177R)

Ref Sequence

ENSEMBL: ENSMUSP00000137259 (fasta)

Gene Model

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

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

probably damaging
Transcript: ENSMUST00000180052
AA Change: G177R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137259
Gene: ENSMUSG00000087279
AA Change: G177R

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.5%

Validation Efficiency

94% (61/65)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef12	T	C	9: 42,927,249 (GRCm39)	T292A	probably benign	Het
Atp11a	T	A	8: 12,870,467 (GRCm39)	D173E	probably damaging	Het
Bltp1	T	G	3: 37,021,338 (GRCm39)	V2154G	probably damaging	Het
Btnl2	G	A	17: 34,582,333 (GRCm39)	V300M	possibly damaging	Het
Calcrl	A	T	2: 84,200,428 (GRCm39)	N117K	possibly damaging	Het
Castor2	T	C	5: 134,164,052 (GRCm39)	S83P	probably damaging	Het
Ccdc196	A	G	12: 78,249,070 (GRCm39)	K139E	probably damaging	Het
Ccl22	A	T	8: 95,473,528 (GRCm39)		probably null	Het
Cd200r1	T	A	16: 44,610,539 (GRCm39)	S216T	probably damaging	Het
Cdk5rap2	G	A	4: 70,278,906 (GRCm39)		probably null	Het
Cfap157	A	G	2: 32,674,260 (GRCm39)	I47T	probably damaging	Het
Chodl	G	A	16: 78,743,572 (GRCm39)	V220I	probably damaging	Het
Cntnap5b	A	G	1: 100,202,197 (GRCm39)	E348G	probably benign	Het
Cstf3	A	G	2: 104,479,807 (GRCm39)	T225A	probably benign	Het
Duoxa1	T	C	2: 122,134,318 (GRCm39)	S267G	probably damaging	Het
Epb41l1	G	A	2: 156,341,507 (GRCm39)	S164N	probably benign	Het
Fat3	T	C	9: 15,908,181 (GRCm39)	D2607G	possibly damaging	Het
Galnt5	A	G	2: 57,889,231 (GRCm39)	D277G	probably benign	Het
Galnt6	A	G	15: 100,612,006 (GRCm39)	I212T	probably damaging	Het
Gm45861	T	C	8: 28,038,213 (GRCm39)		probably null	Het
Gm5478	T	C	15: 101,553,883 (GRCm39)	D243G	probably damaging	Het
Gse1	A	G	8: 121,297,710 (GRCm39)		probably benign	Het
Hspg2	A	T	4: 137,246,600 (GRCm39)	Q1096L	probably benign	Het
Hycc1	T	C	5: 24,196,754 (GRCm39)	I45V	possibly damaging	Het
Idh3b	A	G	2: 130,123,447 (GRCm39)	V181A	probably damaging	Het
Igf2bp3	T	C	6: 49,094,082 (GRCm39)		probably null	Het
Ikzf2	A	G	1: 69,577,929 (GRCm39)	*382Q	probably null	Het
Impg2	A	C	16: 56,088,693 (GRCm39)	H1073P	probably benign	Het
Incenp	T	C	19: 9,854,134 (GRCm39)	E639G	unknown	Het
Kcne4	A	G	1: 78,795,603 (GRCm39)	M84V	probably benign	Het
Ktn1	T	A	14: 47,957,713 (GRCm39)	F1004I	probably damaging	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Malrd1	A	G	2: 16,222,820 (GRCm39)	I2040V	probably damaging	Het
Mau2	T	C	8: 70,485,878 (GRCm39)	D110G	probably damaging	Het
Mei1	T	C	15: 82,009,076 (GRCm39)	V1237A	probably benign	Het
Mfsd11	T	G	11: 116,752,495 (GRCm39)		probably null	Het
Ncapd2	A	G	6: 125,145,883 (GRCm39)	F1293L	probably benign	Het
Nf1	A	G	11: 79,440,294 (GRCm39)	T280A	probably damaging	Het
Obscn	G	T	11: 58,928,411 (GRCm39)	A6085E	probably damaging	Het
Or51b6b	T	A	7: 103,310,050 (GRCm39)	I136F	probably damaging	Het
Pdzd2	C	T	15: 12,375,993 (GRCm39)	A1381T	probably benign	Het
Pramel41	T	A	5: 94,594,891 (GRCm39)	N250K	possibly damaging	Het
Ralgapa2	A	G	2: 146,184,621 (GRCm39)	V1462A	probably damaging	Het
Rbx1	T	A	15: 81,355,163 (GRCm39)	C56*	probably null	Het
Reln	A	G	5: 22,181,562 (GRCm39)	S1774P	probably damaging	Het
Ros1	T	A	10: 52,040,090 (GRCm39)	E300D	probably damaging	Het
Sarnp	T	C	10: 128,684,137 (GRCm39)	V111A	possibly damaging	Het
Scube1	G	T	15: 83,513,636 (GRCm39)	Q345K	probably benign	Het
Slc18b1	A	G	10: 23,701,942 (GRCm39)		probably null	Het
Slc37a2	T	A	9: 37,152,630 (GRCm39)	T64S	probably benign	Het
Slit2	A	G	5: 48,395,727 (GRCm39)	D710G	possibly damaging	Het
Srp72	T	A	5: 77,142,070 (GRCm39)	Y375N	possibly damaging	Het
Tmco4	T	A	4: 138,737,810 (GRCm39)	V135D	probably damaging	Het
Trim62	A	G	4: 128,802,955 (GRCm39)	D335G	probably damaging	Het
Tsfm	T	C	10: 126,858,778 (GRCm39)	M196V	probably benign	Het
Tspan10	T	A	11: 120,335,522 (GRCm39)	C211S	probably damaging	Het
Ttc21b	A	T	2: 66,061,656 (GRCm39)	M498K	probably benign	Het
Ttc6	A	T	12: 57,704,928 (GRCm39)		probably null	Het
Ttll1	G	T	15: 83,386,397 (GRCm39)	Y69*	probably null	Het
Usp28	T	A	9: 48,912,842 (GRCm39)	L31H	probably damaging	Het
Vmn2r86	A	G	10: 130,282,400 (GRCm39)	S739P	probably damaging	Het
Wdr64	T	A	1: 175,533,555 (GRCm39)	F64I	probably damaging	Het
Ywhaq	A	G	12: 21,446,281 (GRCm39)		probably null	Het
Zfr	T	C	15: 12,150,409 (GRCm39)	S459P	probably damaging	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
R0271:4930544D05Rik	UTSW	11	70,507,474 (GRCm39)	missense	possibly damaging	0.62
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
R8131:4930544D05Rik	UTSW	11	70,506,834 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- AATGTAGATCTCGGCCCTGTG -3'
(R):5'- ACAGTGATGGATTATCTGTTCCCC -3'

Sequencing Primer
(F):5'- ACACTGGGGATCCTGGTAG -3'
(R):5'- GTGATGGATTATCTGTTCCCCCATTC -3'

Posted On

2018-11-28