Mutagenetix > Incidental Mutation

Incidental Mutation 'R7919:Gm19965'

648210

Institutional Source

Beutler Lab

Gene Symbol

Gm19965

Ensembl Gene

ENSMUSG00000094429

Gene Name

predicted gene, 19965

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R7919 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

116802983-116823410 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 116822120 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 510 (C510*)

Ref Sequence

ENSEMBL: ENSMUSP00000137019 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179777]

AlphaFold

J3QNY8

Predicted Effect

probably null
Transcript: ENSMUST00000179777
AA Change: C510*

SMART Domains

Protein: ENSMUSP00000137019
Gene: ENSMUSG00000094429
AA Change: C510*

Domain	Start	End	E-Value	Type
KRAB	8	68	1.5e-36	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	G	3: 138,179,550	K95T	probably damaging	Het
9430097D07Rik	T	C	2: 32,574,449	T113A	unknown	Het
Abcc2	T	C	19: 43,816,809	Y701H	probably damaging	Het
Adcy2	T	A	13: 68,887,972	H190L	probably benign	Het
Arhgef15	T	C	11: 68,947,605	T623A	probably benign	Het
Armc3	A	G	2: 19,286,095	T462A	probably benign	Het
Calhm2	C	T	19: 47,133,008	V241M	possibly damaging	Het
Cdc25c	T	C	18: 34,735,376	I314V	probably damaging	Het
Cntrl	G	A	2: 35,127,401	D407N	probably benign	Het
Dnah5	A	G	15: 28,350,596	E2588G	probably damaging	Het
Dnm1	T	A	2: 32,339,978	N178Y	probably damaging	Het
Eaf2	T	A	16: 36,810,552	E86D	probably damaging	Het
Elf1	C	A	14: 79,560,899	D75E	probably benign	Het
Fem1c	T	C	18: 46,524,303	T115A	probably damaging	Het
Garnl3	A	G	2: 33,046,599	V186A	probably benign	Het
Gatb	T	A	3: 85,604,521	S194R	probably damaging	Het
Gm10775	T	A	13: 65,260,099	N71K	unknown	Het
Hydin	A	G	8: 110,267,339	T2A	unknown	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Jag1	G	A	2: 137,088,446	T726M	probably damaging	Het
Kank1	A	G	19: 25,431,075	D1306G	probably damaging	Het
Krt26	T	A	11: 99,333,594	E366V	probably damaging	Het
Ksr2	A	G	5: 117,761,353	E872G	possibly damaging	Het
Med6	G	A	12: 81,573,847	R242*	probably null	Het
Meis2	A	G	2: 115,867,307	V370A	probably benign	Het
Mta2	C	T	19: 8,949,134	R480*	probably null	Het
Mup3	A	T	4: 62,084,592	N177K	probably damaging	Het
Myo15	T	A	11: 60,526,530	V3435E	probably damaging	Het
Ncapg	A	G	5: 45,696,048	T880A	probably benign	Het
Obox1	A	T	7: 15,556,331	K200*	probably null	Het
Olfr1045	A	T	2: 86,198,265	C162*	probably null	Het
Ovgp1	T	A	3: 105,981,285	V319D	probably damaging	Het
Plxdc2	A	T	2: 16,548,225	I145F	probably damaging	Het
Prr30	T	C	14: 101,199,111	N5S	possibly damaging	Het
Ptcd3	T	C	6: 71,903,454	Y95C	probably damaging	Het
Rsl1d1	A	G	16: 11,202,433	S44P	probably benign	Het
Sh3gl2	A	G	4: 85,355,358	E49G	probably benign	Het
Shroom1	A	G	11: 53,463,393	T47A	probably benign	Het
Slc20a1	G	A	2: 129,207,837	D340N	probably benign	Het
Stx1b	A	G	7: 127,807,335	S281P	probably benign	Het
Tg	A	T	15: 66,684,074	I872F	possibly damaging	Het
Ubqln3	C	T	7: 104,141,192	A564T	probably benign	Het
Vsnl1	T	C	12: 11,332,086	E98G	possibly damaging	Het
Vwf	T	C	6: 125,647,859	L1857P		Het
Wars	C	T	12: 108,881,104	E125K	probably benign	Het
Wnt16	G	A	6: 22,291,050	S159N	probably benign	Het
Zcchc14	A	G	8: 121,604,173	F817S	probably damaging	Het
Zufsp	A	G	10: 33,949,112	S125P	possibly damaging	Het

Other mutations in Gm19965

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0993:Gm19965	UTSW	1	116821825	missense	probably benign	0.04
R1016:Gm19965	UTSW	1	116821301	nonsense	probably null
R1173:Gm19965	UTSW	1	116820820	splice site	probably benign
R1175:Gm19965	UTSW	1	116820820	splice site	probably benign
R1335:Gm19965	UTSW	1	116804619	missense	possibly damaging	0.79
R1773:Gm19965	UTSW	1	116821259	nonsense	probably null
R1802:Gm19965	UTSW	1	116820903	nonsense	probably null
R2884:Gm19965	UTSW	1	116821583	missense	probably benign	0.14
R3435:Gm19965	UTSW	1	116821623	missense	possibly damaging	0.78
R4072:Gm19965	UTSW	1	116821071	missense	probably benign	0.17
R4585:Gm19965	UTSW	1	116821778	missense	probably benign	0.00
R4801:Gm19965	UTSW	1	116821896	missense	probably benign
R4802:Gm19965	UTSW	1	116821896	missense	probably benign
R5328:Gm19965	UTSW	1	116821418	missense	possibly damaging	0.78
R5856:Gm19965	UTSW	1	116821849	missense	probably benign
R5960:Gm19965	UTSW	1	116821471	missense	possibly damaging	0.67
R6185:Gm19965	UTSW	1	116821273	missense	possibly damaging	0.61
R6297:Gm19965	UTSW	1	116822680	missense	possibly damaging	0.82
R6374:Gm19965	UTSW	1	116822291	missense	probably benign	0.06
R6811:Gm19965	UTSW	1	116804079	missense	probably damaging	1.00
R6860:Gm19965	UTSW	1	116820879	missense	probably benign	0.19
R7076:Gm19965	UTSW	1	116821275	missense
R7162:Gm19965	UTSW	1	116822365	missense	unknown
R7290:Gm19965	UTSW	1	116821191	missense
R7473:Gm19965	UTSW	1	116821872	missense	unknown
R7643:Gm19965	UTSW	1	116822229	missense	unknown
R8187:Gm19965	UTSW	1	116821802	nonsense	probably null
R8306:Gm19965	UTSW	1	116821785	missense
R8477:Gm19965	UTSW	1	116803124	start gained	probably benign
R8751:Gm19965	UTSW	1	116822137	missense	unknown
R8876:Gm19965	UTSW	1	116822046	missense	unknown
R9151:Gm19965	UTSW	1	116821212	missense
R9389:Gm19965	UTSW	1	116821836	missense
R9444:Gm19965	UTSW	1	116804663	missense
R9696:Gm19965	UTSW	1	116803108	start gained	probably benign
R9696:Gm19965	UTSW	1	116821480	missense
Z1088:Gm19965	UTSW	1	116804600	missense	probably benign	0.30

Predicted Primers

PCR Primer
(F):5'- TACAGGGATGCCTCAAATGAATC -3'
(R):5'- GAGGATCTTGTAAAAGATTTGCCAC -3'

Sequencing Primer
(F):5'- TTAAACTTTCAGAGAGACCAGAAAGC -3'
(R):5'- TGCCACATTCATTACATTTGTAAGG -3'

Posted On

2020-09-15