Mutagenetix > Incidental Mutation

Incidental Mutation 'R9453:Gm5114'

714391

Institutional Source

Beutler Lab

Gene Symbol

Gm5114

Ensembl Gene

ENSMUSG00000053742

Gene Name

predicted gene 5114

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R9453 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39056718-39062584 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39058242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 459 (Q459L)

Ref Sequence

ENSEMBL: ENSMUSP00000103652 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108017]

AlphaFold

W4VSN8

Predicted Effect

probably damaging
Transcript: ENSMUST00000108017
AA Change: Q459L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103652
Gene: ENSMUSG00000053742
AA Change: Q459L

Domain	Start	End	E-Value	Type
Pfam:DUF4629	435	580	2.5e-65	PFAM
low complexity region	709	726	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	G	A	11: 58,771,054 (GRCm39)	A179T	probably benign	Het
Abca6	A	G	11: 110,138,090 (GRCm39)		probably null	Het
Agps	A	C	2: 75,662,585 (GRCm39)	D10A	probably damaging	Het
Atad2b	T	A	12: 5,081,578 (GRCm39)	D1162E	probably benign	Het
Atp13a4	T	C	16: 29,239,659 (GRCm39)	K851R	unknown	Het
Cdh15	A	G	8: 123,586,029 (GRCm39)	D136G	probably damaging	Het
Cdk5rap1	A	T	2: 154,190,585 (GRCm39)	Y459N	probably damaging	Het
Cep192	A	T	18: 67,989,354 (GRCm39)	K1834*	probably null	Het
Cfap221	C	T	1: 119,853,361 (GRCm39)	V778I	probably benign	Het
Chpf	G	A	1: 75,452,854 (GRCm39)	T362I	probably benign	Het
Cyp4x1	T	C	4: 114,991,069 (GRCm39)	R36G	probably damaging	Het
D16Ertd472e	T	A	16: 78,342,052 (GRCm39)	Q276L	probably damaging	Het
Dapk3	T	C	10: 81,025,825 (GRCm39)	Y39H	probably damaging	Het
Eefsec	T	C	6: 88,353,337 (GRCm39)	T111A	probably damaging	Het
Ehbp1l1	G	A	19: 5,758,371 (GRCm39)	R1714C	unknown	Het
Flcn	A	G	11: 59,694,609 (GRCm39)	V121A	probably damaging	Het
Gaa	G	T	11: 119,165,958 (GRCm39)	D423Y	probably damaging	Het
Gaa	A	C	11: 119,165,959 (GRCm39)	D423A	probably benign	Het
Garnl3	A	G	2: 32,893,881 (GRCm39)	I694T	probably damaging	Het
H1f0	C	T	15: 78,912,947 (GRCm39)	P9L	probably damaging	Het
Hmmr	A	G	11: 40,612,655 (GRCm39)		probably null	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Lmnb1	G	A	18: 56,873,114 (GRCm39)		probably null	Het
Lrp2	T	C	2: 69,288,832 (GRCm39)	Y3678C	probably damaging	Het
Map7	T	C	10: 20,153,981 (GRCm39)	V699A	unknown	Het
Mme	G	T	3: 63,272,306 (GRCm39)	G635V	possibly damaging	Het
Mroh8	A	T	2: 157,071,948 (GRCm39)	I519N	possibly damaging	Het
Mrps11	T	C	7: 78,442,390 (GRCm39)	S157P	probably damaging	Het
Muc16	T	C	9: 18,572,061 (GRCm39)	T153A	unknown	Het
Nlrp1b	A	G	11: 71,072,913 (GRCm39)	V310A	probably damaging	Het
Oas1f	T	C	5: 120,993,592 (GRCm39)	V268A	probably damaging	Het
Or56a3b	T	A	7: 104,770,817 (GRCm39)	I51N		Het
Or6y1	A	T	1: 174,276,233 (GRCm39)	T15S	probably benign	Het
Padi4	A	G	4: 140,479,950 (GRCm39)	L401P	probably benign	Het
Pdzd7	A	G	19: 45,016,056 (GRCm39)	*1022Q	probably null	Het
Plcl2	C	A	17: 50,915,391 (GRCm39)	T800K	probably damaging	Het
Polr1has	TCACCACCACCACCACCACCACCAC	TCACCACCACCACCACCACCAC	17: 37,275,939 (GRCm39)		probably benign	Het
Ppp1r37	A	T	7: 19,295,796 (GRCm39)	F54I	probably damaging	Het
Prl7c1	T	A	13: 27,957,870 (GRCm39)	Y190F	probably benign	Het
Prpf8	A	G	11: 75,397,212 (GRCm39)	E2015G	possibly damaging	Het
Rpap3	A	G	15: 97,579,641 (GRCm39)	V457A		Het
Samd13	A	T	3: 146,368,510 (GRCm39)	D27E		Het
Sephs1	A	T	2: 4,889,174 (GRCm39)		probably benign	Het
Slc22a20	T	G	19: 6,023,024 (GRCm39)	Q373P	probably damaging	Het
Sp100	A	G	1: 85,629,179 (GRCm39)	*483W	probably null	Het
Src	A	T	2: 157,307,852 (GRCm39)	T254S	probably damaging	Het
St6galnac2	A	T	11: 116,569,344 (GRCm39)	M301K	possibly damaging	Het
Tnfsf13	A	T	11: 69,576,010 (GRCm39)	W26R	probably damaging	Het
Trbv28	T	A	6: 41,248,687 (GRCm39)	D72E	probably benign	Het
Trim75	T	A	8: 65,436,561 (GRCm39)		probably benign	Het
Ttc39d	T	C	17: 80,524,754 (GRCm39)	F471S	probably damaging	Het
Vav1	C	T	17: 57,613,191 (GRCm39)	P621L	probably benign	Het
Vezt	A	T	10: 93,832,856 (GRCm39)	L185*	probably null	Het
Vmn2r42	T	C	7: 8,187,295 (GRCm39)	I826V	probably benign	Het
Vmn2r67	G	A	7: 84,800,697 (GRCm39)	T413M	probably benign	Het
Vnn1	G	A	10: 23,776,723 (GRCm39)	C358Y	probably damaging	Het
Wdr83os	G	C	8: 85,808,638 (GRCm39)	W106C	probably damaging	Het
Wdr95	T	C	5: 149,475,917 (GRCm39)	S72P	probably damaging	Het
Zfp423	T	A	8: 88,508,251 (GRCm39)	T698S	probably damaging	Het
Zfp521	G	A	18: 13,977,293 (GRCm39)	T1040I	probably damaging	Het
Zfp563	T	A	17: 33,308,565 (GRCm39)	V9E		Het
Zmym2	T	A	14: 57,180,770 (GRCm39)	V894E	probably damaging	Het

Other mutations in Gm5114

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Gm5114	APN	7	39,060,071 (GRCm39)	splice site	probably benign
IGL01295:Gm5114	APN	7	39,057,241 (GRCm39)	missense	probably damaging	1.00
IGL01349:Gm5114	APN	7	39,058,531 (GRCm39)	missense	probably benign
IGL01633:Gm5114	APN	7	39,057,490 (GRCm39)	missense	probably benign
IGL01634:Gm5114	APN	7	39,058,071 (GRCm39)	missense	probably benign
IGL02072:Gm5114	APN	7	39,060,826 (GRCm39)	missense	probably benign	0.00
FR4304:Gm5114	UTSW	7	39,060,530 (GRCm39)	missense	probably benign	0.00
FR4304:Gm5114	UTSW	7	39,060,529 (GRCm39)	missense	probably benign
R0034:Gm5114	UTSW	7	39,058,282 (GRCm39)	missense	possibly damaging	0.83
R0127:Gm5114	UTSW	7	39,057,880 (GRCm39)	missense	probably benign	0.00
R0328:Gm5114	UTSW	7	39,057,885 (GRCm39)	missense	probably damaging	1.00
R0387:Gm5114	UTSW	7	39,058,233 (GRCm39)	missense	probably benign	0.15
R0693:Gm5114	UTSW	7	39,058,188 (GRCm39)	missense	probably benign	0.00
R1006:Gm5114	UTSW	7	39,058,510 (GRCm39)	missense	probably damaging	1.00
R2039:Gm5114	UTSW	7	39,058,612 (GRCm39)	missense	probably damaging	1.00
R3433:Gm5114	UTSW	7	39,058,621 (GRCm39)	missense	probably benign	0.02
R3834:Gm5114	UTSW	7	39,058,161 (GRCm39)	missense	possibly damaging	0.69
R4320:Gm5114	UTSW	7	39,057,051 (GRCm39)	missense	probably damaging	1.00
R5214:Gm5114	UTSW	7	39,057,792 (GRCm39)	missense	probably benign	0.19
R5443:Gm5114	UTSW	7	39,058,289 (GRCm39)	missense	probably benign	0.00
R5471:Gm5114	UTSW	7	39,058,534 (GRCm39)	nonsense	probably null
R5707:Gm5114	UTSW	7	39,060,700 (GRCm39)	missense	probably benign	0.01
R6129:Gm5114	UTSW	7	39,058,024 (GRCm39)	missense	possibly damaging	0.71
R6234:Gm5114	UTSW	7	39,058,768 (GRCm39)	missense	probably benign	0.19
R6326:Gm5114	UTSW	7	39,057,579 (GRCm39)	missense	probably benign
R6443:Gm5114	UTSW	7	39,057,141 (GRCm39)	missense	possibly damaging	0.91
R6530:Gm5114	UTSW	7	39,057,514 (GRCm39)	missense	probably damaging	1.00
R6743:Gm5114	UTSW	7	39,057,997 (GRCm39)	missense	probably benign	0.42
R6770:Gm5114	UTSW	7	39,057,967 (GRCm39)	missense	possibly damaging	0.94
R6885:Gm5114	UTSW	7	39,057,580 (GRCm39)	missense	probably benign	0.01
R6980:Gm5114	UTSW	7	39,058,624 (GRCm39)	missense	probably benign	0.01
R7100:Gm5114	UTSW	7	39,057,708 (GRCm39)	missense	possibly damaging	0.52
R7215:Gm5114	UTSW	7	39,060,795 (GRCm39)	missense	probably benign	0.02
R7254:Gm5114	UTSW	7	39,058,390 (GRCm39)	missense	probably benign	0.35
R7343:Gm5114	UTSW	7	39,058,180 (GRCm39)	missense	probably damaging	1.00
R7366:Gm5114	UTSW	7	39,058,768 (GRCm39)	missense	possibly damaging	0.69
R7474:Gm5114	UTSW	7	39,057,404 (GRCm39)	missense	probably benign	0.01
R7499:Gm5114	UTSW	7	39,058,489 (GRCm39)	missense	possibly damaging	0.55
R8022:Gm5114	UTSW	7	39,058,800 (GRCm39)	missense	probably benign
R8121:Gm5114	UTSW	7	39,057,552 (GRCm39)	missense	probably benign	0.15
R8201:Gm5114	UTSW	7	39,060,373 (GRCm39)	missense	probably damaging	0.98
R8212:Gm5114	UTSW	7	39,060,676 (GRCm39)	missense	probably benign	0.18
R8321:Gm5114	UTSW	7	39,060,273 (GRCm39)	missense	possibly damaging	0.85
R8725:Gm5114	UTSW	7	39,060,657 (GRCm39)	missense	probably benign	0.17
R8752:Gm5114	UTSW	7	39,057,927 (GRCm39)	missense	probably damaging	0.99
R8891:Gm5114	UTSW	7	39,057,718 (GRCm39)	missense	probably benign	0.05
R8934:Gm5114	UTSW	7	39,060,553 (GRCm39)	missense	probably benign	0.14
R8969:Gm5114	UTSW	7	39,058,732 (GRCm39)	missense	probably damaging	1.00
R9158:Gm5114	UTSW	7	39,060,486 (GRCm39)	missense	probably damaging	0.97
R9419:Gm5114	UTSW	7	39,057,540 (GRCm39)	missense	possibly damaging	0.92
Z1088:Gm5114	UTSW	7	39,057,871 (GRCm39)	missense	probably damaging	1.00
Z1177:Gm5114	UTSW	7	39,058,750 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GGATCGAGGCTTCTTGAAGC -3'
(R):5'- TCACTAGGTTTGGGGCAGAC -3'

Sequencing Primer
(F):5'- AGCTCAGGTGGGTTCCTC -3'
(R):5'- TGGGGCAGACATTCAACTTC -3'

Posted On

2022-06-15