Mutagenetix > Incidental Mutation

Incidental Mutation 'R8131:4930544D05Rik'

652060

Institutional Source

Beutler Lab

Gene Symbol

4930544D05Rik

Ensembl Gene

ENSMUSG00000087279

Gene Name

RIKEN cDNA 4930544D05 gene

Synonyms

MMRRC Submission

067560-MU

Accession Numbers

Essential gene?

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

Stock #

R8131 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70506674-70507716 bp(+) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 70506834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137259 (fasta)

Gene Model

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

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 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 null
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 null
Transcript: ENSMUST00000180052

SMART Domains

Protein: ENSMUSP00000137259
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: 99.9%
3x: 99.8%
10x: 99.0%
20x: 96.1%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb10	C	T	8: 124,691,757 (GRCm39)	A403T		Het
Acan	C	T	7: 78,741,086 (GRCm39)	P484L	possibly damaging	Het
Amotl2	T	A	9: 102,597,615 (GRCm39)	Y125N	probably damaging	Het
Apaf1	C	A	10: 90,913,420 (GRCm39)	V168F	possibly damaging	Het
Arhgap32	C	T	9: 32,158,426 (GRCm39)	H154Y	probably damaging	Het
B4galnt3	A	G	6: 120,271,346 (GRCm39)		probably null	Het
Bahcc1	C	T	11: 120,163,664 (GRCm39)	A654V	probably benign	Het
Bcl11b	T	A	12: 107,931,967 (GRCm39)	M202L	probably benign	Het
Cdc40	C	A	10: 40,717,473 (GRCm39)	R406L	possibly damaging	Het
Cemip	C	A	7: 83,652,616 (GRCm39)		probably benign	Het
Col26a1	T	C	5: 136,775,894 (GRCm39)	D353G	probably benign	Het
Col6a5	T	A	9: 105,778,815 (GRCm39)	Q1682L	unknown	Het
Cul9	C	T	17: 46,822,168 (GRCm39)	G1819D	probably damaging	Het
Cyp2b10	C	T	7: 25,614,242 (GRCm39)	Q239*	probably null	Het
Dthd1	T	A	5: 63,000,259 (GRCm39)	I527N	probably damaging	Het
Dzip3	C	T	16: 48,754,156 (GRCm39)		probably null	Het
Ecm2	A	G	13: 49,671,940 (GRCm39)	E147G	probably benign	Het
Ercc6l2	C	T	13: 63,982,561 (GRCm39)	T132M	probably damaging	Het
Esf1	G	A	2: 139,990,751 (GRCm39)	Q578*	probably null	Het
Gria4	C	T	9: 4,502,429 (GRCm39)	R368H	probably benign	Het
Hps5	T	C	7: 46,421,312 (GRCm39)	D717G	probably benign	Het
Hrh1	A	T	6: 114,457,253 (GRCm39)	D178V	probably benign	Het
Inppl1	T	C	7: 101,479,268 (GRCm39)	N537S	possibly damaging	Het
Itih1	T	C	14: 30,663,521 (GRCm39)	Y165C	probably damaging	Het
Krt71	T	A	15: 101,643,141 (GRCm39)	I456F	possibly damaging	Het
Larp4	T	C	15: 99,892,570 (GRCm39)	V255A	probably damaging	Het
Lrriq1	T	G	10: 103,051,572 (GRCm39)	R393S	possibly damaging	Het
Mep1a	T	A	17: 43,813,558 (GRCm39)	I31L	probably benign	Het
Muc5b	C	T	7: 141,396,146 (GRCm39)	T134I	unknown	Het
Neurl4	T	C	11: 69,800,067 (GRCm39)	Y1052H	probably benign	Het
Nlrc5	C	G	8: 95,208,420 (GRCm39)	N755K	probably damaging	Het
Nrde2	T	C	12: 100,108,502 (GRCm39)	K363R	probably benign	Het
Pcdhb12	T	C	18: 37,570,335 (GRCm39)	S494P	possibly damaging	Het
Pcnx1	C	A	12: 81,965,292 (GRCm39)	S486R	possibly damaging	Het
Pira13	T	A	7: 3,825,161 (GRCm39)	R494*	probably null	Het
Plrg1	T	A	3: 82,977,081 (GRCm39)	V374E	probably damaging	Het
Plxnb2	A	G	15: 89,042,916 (GRCm39)	I1491T	probably damaging	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Scn4a	T	C	11: 106,232,367 (GRCm39)	E490G	probably benign	Het
Sec16a	A	G	2: 26,300,958 (GRCm39)	V887A		Het
Serpina3a	T	C	12: 104,082,467 (GRCm39)	I80T	probably damaging	Het
Setd1b	A	T	5: 123,281,443 (GRCm39)	I66F	unknown	Het
Slirp	T	A	12: 87,494,428 (GRCm39)		probably null	Het
Socs6	A	C	18: 88,888,169 (GRCm39)	S249A	probably benign	Het
Thoc2l	A	G	5: 104,669,027 (GRCm39)	E1183G	possibly damaging	Het
Ttn	A	T	2: 76,616,077 (GRCm39)	I16622N	probably damaging	Het
Uox	A	T	3: 146,331,589 (GRCm39)	T237S	probably damaging	Het
Vmn2r43	T	A	7: 8,258,326 (GRCm39)	I296L	probably benign	Het
Vmn2r74	T	A	7: 85,601,943 (GRCm39)	D565V	probably benign	Het
Vps13b	T	C	15: 35,372,255 (GRCm39)		probably null	Het
Vps13d	A	G	4: 144,882,707 (GRCm39)	V962A		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
R6959:4930544D05Rik	UTSW	11	70,507,485 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGCCTGATGTCACAGCACC -3'
(R):5'- AGCTCTCTGAACCTTTGCAC -3'

Sequencing Primer
(F):5'- TAGCTGCCCTCTACCTCACAAATAC -3'
(R):5'- TGCACCAGATATTCGTGAGC -3'

Posted On

2020-10-02