Mutagenetix > Incidental Mutation

Incidental Mutation 'R5443:Gm5114'

427270

Institutional Source

Beutler Lab

Gene Symbol

Gm5114

Ensembl Gene

ENSMUSG00000053742

Gene Name

predicted gene 5114

Synonyms

MMRRC Submission

043008-MU

Accession Numbers

Essential gene?

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

Stock #

R5443 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39056718-39062584 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39058289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 443 (K443N)

Ref Sequence

ENSEMBL: ENSMUSP00000103652 (fasta)

Gene Model

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

AlphaFold

W4VSN8

Predicted Effect

probably benign
Transcript: ENSMUST00000108017
AA Change: K443N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000103652
Gene: ENSMUSG00000053742
AA Change: K443N

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.9%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	A	T	10: 4,305,576 (GRCm39)	E795D	probably damaging	Het
Aldh6a1	T	C	12: 84,484,745 (GRCm39)		probably null	Het
Aox4	A	G	1: 58,273,151 (GRCm39)		probably null	Het
Arhgap39	G	A	15: 76,682,125 (GRCm39)		probably benign	Het
AW551984	T	C	9: 39,509,325 (GRCm39)	E272G	possibly damaging	Het
C1qc	G	A	4: 136,619,804 (GRCm39)		probably benign	Het
Carhsp1	C	A	16: 8,482,203 (GRCm39)	R26L	probably benign	Het
Cdh12	G	T	15: 21,237,935 (GRCm39)	V57L	probably benign	Het
Cfap298	G	T	16: 90,724,099 (GRCm39)	Q168K	probably benign	Het
Clec3a	A	G	8: 115,144,893 (GRCm39)	Y23C	probably benign	Het
Crebrf	G	C	17: 26,961,328 (GRCm39)	V150L	probably damaging	Het
Ddx41	G	T	13: 55,683,104 (GRCm39)	A201E	probably benign	Het
Doc2b	T	C	11: 75,670,921 (GRCm39)	K237E	probably damaging	Het
Dst	T	C	1: 34,267,620 (GRCm39)	S5199P	probably damaging	Het
Efnb2	A	G	8: 8,670,862 (GRCm39)	I129T	probably damaging	Het
Epg5	A	G	18: 78,070,712 (GRCm39)	E2329G	possibly damaging	Het
Esrrg	A	C	1: 187,775,622 (GRCm39)	T27P	possibly damaging	Het
Fah	T	A	7: 84,241,604 (GRCm39)	R316W	probably damaging	Het
Fat4	T	C	3: 39,064,519 (GRCm39)	L4825P	probably damaging	Het
Gabbr1	T	C	17: 37,381,648 (GRCm39)	V804A	probably damaging	Het
Gm1322	G	A	2: 67,015,012 (GRCm39)		noncoding transcript	Het
Gnai2	T	C	9: 107,497,386 (GRCm39)	I3V	probably damaging	Het
Gp2	G	A	7: 119,053,821 (GRCm39)	P47S	possibly damaging	Het
Klf15	C	A	6: 90,444,342 (GRCm39)	Q306K	possibly damaging	Het
Ly6a2	A	T	15: 75,005,568 (GRCm39)		noncoding transcript	Het
Maco1	A	T	4: 134,560,619 (GRCm39)	C121*	probably null	Het
Necab2	A	T	8: 120,195,032 (GRCm39)	M295L	probably benign	Het
Nrg1	A	T	8: 32,339,348 (GRCm39)	Y208N	probably damaging	Het
Nup88	A	T	11: 70,849,256 (GRCm39)	Y232*	probably null	Het
Oacyl	A	G	18: 65,883,253 (GRCm39)	R611G	probably benign	Het
Oasl1	T	C	5: 115,074,129 (GRCm39)		probably null	Het
Or2n1e	T	A	17: 38,585,905 (GRCm39)	M81K	probably damaging	Het
Or2y14	G	T	11: 49,405,262 (GRCm39)	G266C	probably damaging	Het
Or52h7	T	C	7: 104,213,583 (GRCm39)	Y52H	probably benign	Het
Or8k25	A	C	2: 86,243,937 (GRCm39)	I153R	possibly damaging	Het
Pate4	A	C	9: 35,519,170 (GRCm39)	S66A	possibly damaging	Het
Pigl	T	A	11: 62,349,309 (GRCm39)	C8*	probably null	Het
Plg	G	A	17: 12,601,070 (GRCm39)	A51T	probably benign	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Ppig	A	T	2: 69,564,635 (GRCm39)	D97V	probably damaging	Het
Ppp1r16a	A	G	15: 76,578,846 (GRCm39)	K517E	possibly damaging	Het
Prr16	A	T	18: 51,436,225 (GRCm39)	S235C	probably damaging	Het
Psmd1	G	A	1: 86,017,905 (GRCm39)	R572H	probably damaging	Het
Sbf2	T	C	7: 109,977,135 (GRCm39)		probably benign	Het
Scrt2	A	T	2: 151,924,043 (GRCm39)	Y25F	probably benign	Het
Sema6d	A	T	2: 124,498,756 (GRCm39)	H222L	probably damaging	Het
Septin2	A	G	1: 93,425,174 (GRCm39)	N110S	possibly damaging	Het
Shpk	G	A	11: 73,113,607 (GRCm39)	G340D	possibly damaging	Het
Smg5	T	A	3: 88,261,896 (GRCm39)	L723H	probably damaging	Het
Sp110	C	T	1: 85,516,841 (GRCm39)	E219K	possibly damaging	Het
Spo11	T	C	2: 172,831,152 (GRCm39)		probably benign	Het
Srarp	T	A	4: 141,163,388 (GRCm39)		probably null	Het
Tbc1d5	A	G	17: 51,042,995 (GRCm39)	I831T	probably damaging	Het
Tm9sf2	A	T	14: 122,363,607 (GRCm39)	Y109F	probably damaging	Het
Tpcn2	A	T	7: 144,809,209 (GRCm39)	M699K	possibly damaging	Het
Trim34a	T	C	7: 103,909,420 (GRCm39)	F289S	possibly damaging	Het
Trim39	T	C	17: 36,571,645 (GRCm39)	H371R	probably damaging	Het
Usp48	T	A	4: 137,348,532 (GRCm39)	I11N	possibly damaging	Het
Zbtb10	T	C	3: 9,345,108 (GRCm39)	F677L	probably benign	Het
Zer1	C	T	2: 30,001,008 (GRCm39)	G138S	probably damaging	Het
Zfp612	A	G	8: 110,816,227 (GRCm39)	K439R	possibly 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
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
R9453:Gm5114	UTSW	7	39,058,242 (GRCm39)	missense	probably damaging	0.99
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'- GACTCTGTTCCTTGACTGCTTAAG -3'
(R):5'- TGGGTCCGAAAGAGCTTGTG -3'

Sequencing Primer
(F):5'- CTTGGATGTGTTCTCTGGTACAC -3'
(R):5'- CGAAAGAGCTTGTGGGGCTAG -3'

Posted On

2016-09-01