Mutagenetix > Incidental Mutation

Incidental Mutation 'R7898:Gm5065'

609817

Institutional Source

Beutler Lab

Gene Symbol

Gm5065

Ensembl Gene

ENSMUSG00000048398

Gene Name

predicted gene 5065

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.313) question?

Stock #

R7898 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5350537-5360682 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 5359442 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 24 (R24H)

Ref Sequence

ENSEMBL: ENSMUSP00000055799 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056639] [ENSMUST00000207531]

AlphaFold

Q7TPX9

Predicted Effect

probably benign
Transcript: ENSMUST00000056639
AA Change: R24H

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000055799
Gene: ENSMUSG00000048398
AA Change: R24H

Domain	Start	End	E-Value	Type
GLECT	31	165	1.56e-15	SMART
Gal-bind_lectin	37	165	2.51e-43	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000207531
AA Change: R24H

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

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

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007K13Rik	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,466,110		probably benign	Het
4931409K22Rik	T	C	5: 24,553,645	E117G	probably damaging	Het
Acaca	T	C	11: 84,364,449		probably null	Het
Ankef1	C	A	2: 136,553,698	N649K	probably benign	Het
Arl5b	T	A	2: 15,075,058	S147T	probably damaging	Het
Arnt2	A	T	7: 84,268,947		probably null	Het
Ash1l	A	G	3: 88,983,625	E937G	possibly damaging	Het
Asxl1	T	G	2: 153,399,934	S802R	possibly damaging	Het
B230118H07Rik	T	A	2: 101,586,402	K67N	probably benign	Het
BC017158	C	A	7: 128,298,005	A27S	probably benign	Het
Cacna1h	T	A	17: 25,392,276	H516L	probably damaging	Het
Cad	A	G	5: 31,061,485	Y550C	probably damaging	Het
Cdo1	A	G	18: 46,728,090	I18T	probably benign	Het
Chd2	A	G	7: 73,519,475		probably null	Het
Dbf4	A	G	5: 8,408,232		probably null	Het
Dcdc2a	A	T	13: 25,102,378	R132W	possibly damaging	Het
Dnah10	T	C	5: 124,782,361	S2131P	probably damaging	Het
Eef2k	A	G	7: 120,895,218	Y599C	probably damaging	Het
Eno2	C	T	6: 124,767,262		probably null	Het
Fam124b	T	A	1: 80,213,795		probably benign	Het
Fezf2	A	G	14: 12,342,701	I388T	possibly damaging	Het
Gbp11	T	C	5: 105,324,932	N542S	probably benign	Het
Gdpd1	T	A	11: 87,041,813	I229F	probably damaging	Het
Gria1	T	A	11: 57,242,765	V490E	probably damaging	Het
Grm8	G	A	6: 27,762,423	R268C	probably damaging	Het
Hectd4	T	A	5: 121,331,817	S2592T	probably benign	Het
Herpud1	C	T	8: 94,392,200	T194I	probably benign	Het
Hspa1b	T	C	17: 34,958,191	T273A	probably benign	Het
Ighm	T	A	12: 113,421,253	K327*	probably null	Het
Igkv3-4	A	T	6: 70,672,313	I99F	probably damaging	Het
Isl2	C	A	9: 55,542,439	S97R	probably benign	Het
Klhl12	A	T	1: 134,458,481	I4F	probably benign	Het
Lrp2	T	C	2: 69,441,366	E4074G	probably benign	Het
Mcm3ap	A	G	10: 76,506,607	N1645D	probably damaging	Het
Mettl23	T	C	11: 116,845,853		probably benign	Het
Mettl24	A	G	10: 40,810,482	E285G	probably benign	Het
Mis18bp1	A	G	12: 65,149,472	L506P	probably benign	Het
Mup18	G	T	4: 61,672,688		probably null	Het
Myom1	T	C	17: 71,045,752	L357P	probably benign	Het
Nkx2-9	G	A	12: 56,612,246	A61V	probably benign	Het
Olfr669	C	T	7: 104,939,366	A280V	probably damaging	Het
Pbx1	A	T	1: 168,185,047	M340K	probably benign	Het
Pcdhb17	A	T	18: 37,485,180	N8Y	probably benign	Het
Pex13	C	A	11: 23,650,929		probably null	Het
Plxnb1	A	G	9: 109,114,340	R1884G	probably damaging	Het
Polq	T	A	16: 37,044,883	V699E	probably damaging	Het
Ppl	C	T	16: 5,088,861	R1190H	probably damaging	Het
Prr14l	A	T	5: 32,829,966	H728Q	probably benign	Het
Prss12	T	C	3: 123,506,496	V752A	possibly damaging	Het
Prss56	A	G	1: 87,184,199	S51G	probably benign	Het
Pwp2	G	A	10: 78,173,406	R854W	probably damaging	Het
Rhobtb2	C	T	14: 69,796,297	C493Y	probably damaging	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Scap	A	G	9: 110,384,743	N1258S	possibly damaging	Het
Sec31a	C	T	5: 100,399,477	G218R	probably damaging	Het
Siglec15	A	T	18: 78,043,699	M315K	probably benign	Het
Slc17a6	G	A	7: 51,658,825		probably null	Het
Smchd1	T	C	17: 71,377,818		probably null	Het
Spag4	A	T	2: 156,069,324	D393V	probably damaging	Het
Spata5	T	G	3: 37,420,471	M44R	probably benign	Het
Sulf1	A	G	1: 12,805,294	N176S	probably damaging	Het
Tmem9	T	A	1: 136,027,387		probably null	Het
Tnpo3	T	C	6: 29,565,224	I577V	probably benign	Het
Tti1	A	C	2: 157,993,470	I956S	probably benign	Het
Wdr66	A	T	5: 123,322,454	I1160F	probably damaging	Het
Wdr81	T	C	11: 75,453,899	R181G	probably benign	Het
Zfp462	T	A	4: 55,012,995	C1654S	probably damaging	Het
Zfp74	A	T	7: 29,935,955	C109*	probably null	Het
Znrf4	A	G	17: 56,511,681	C209R	probably damaging	Het
Zzef1	T	G	11: 72,796,547	L84R	probably damaging	Het

Other mutations in Gm5065

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02060:Gm5065	APN	7	5359564	missense	probably damaging	0.99
IGL02147:Gm5065	APN	7	5359733	missense	probably damaging	1.00
R0771:Gm5065	UTSW	7	5359823	missense	probably damaging	1.00
R0906:Gm5065	UTSW	7	5359829	missense	probably damaging	0.99
R2018:Gm5065	UTSW	7	5359574	missense	probably benign	0.18
R2258:Gm5065	UTSW	7	5359402	missense	probably benign
R2519:Gm5065	UTSW	7	5359834	missense	probably damaging	1.00
R2865:Gm5065	UTSW	7	5359669	missense	probably benign	0.25
R5893:Gm5065	UTSW	7	5359624	missense	probably benign	0.00
R7485:Gm5065	UTSW	7	5359441	missense	probably benign	0.39
R7716:Gm5065	UTSW	7	5359820	missense	possibly damaging	0.56
R7836:Gm5065	UTSW	7	5359508	missense	probably damaging	1.00
R8192:Gm5065	UTSW	7	5359596	missense	possibly damaging	0.77
R9324:Gm5065	UTSW	7	5359528	missense	possibly damaging	0.61

Predicted Primers

PCR Primer
(F):5'- CATAAAAGGTCCTTTGGTGGGG -3'
(R):5'- GAGTTCAATCGCCACATCGG -3'

Sequencing Primer
(F):5'- TCATGGGAAAGAGGCTTACGTG -3'
(R):5'- ACATCGGCAGGAGGATCTTC -3'

Posted On

2019-12-20