Mutagenetix > Incidental Mutation

Incidental Mutation 'R8022:Gm5114'

617451

Institutional Source

Beutler Lab

Gene Symbol

Gm5114

Ensembl Gene

ENSMUSG00000053742

Gene Name

predicted gene 5114

Synonyms

MMRRC Submission

067461-MU

Accession Numbers

Essential gene?

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

Stock #

R8022 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

39407294-39413160 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39409376 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 273 (H273L)

Ref Sequence

ENSEMBL: ENSMUSP00000103652 (fasta)

Gene Model

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

AlphaFold

W4VSN8

Predicted Effect

probably benign
Transcript: ENSMUST00000108017
AA Change: H273L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103652
Gene: ENSMUSG00000053742
AA Change: H273L

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,223,854	T1386S	probably benign	Het
AI661453	T	G	17: 47,466,236	S296A	unknown	Het
Ambp	G	T	4: 63,144,197	N268K	probably damaging	Het
Ankrd11	T	C	8: 122,887,593	K2503E	probably damaging	Het
Ap1g1	C	A	8: 109,832,735	R221S	possibly damaging	Het
Ap5z1	T	C	5: 142,470,149		probably null	Het
Aspa	A	C	11: 73,322,206	N103K	probably benign	Het
BC049730	T	A	7: 24,714,174	I205N	possibly damaging	Het
Bend7	G	A	2: 4,752,779	V211I	probably benign	Het
Bsn	A	G	9: 108,114,404	M1383T	probably benign	Het
Cad	G	T	5: 31,068,806	V1117F	probably damaging	Het
Cdh2	A	G	18: 16,590,301	L856S	probably damaging	Het
Cdh7	T	A	1: 110,061,108	S247T	probably benign	Het
Ces1b	A	G	8: 93,069,315		probably null	Het
Chd7	T	A	4: 8,751,605	V34E	unknown	Het
Clca3a2	A	T	3: 144,805,766	F623I	probably damaging	Het
Cope	T	G	8: 70,312,803	M217R	probably benign	Het
Crim1	T	A	17: 78,315,555	I394N	possibly damaging	Het
Crnkl1	A	T	2: 145,918,566	I644N	probably damaging	Het
Cry1	G	A	10: 85,146,402	A360V	probably damaging	Het
Ctcfl	A	T	2: 173,118,766	V8D	probably benign	Het
Cyp2d34	G	A	15: 82,616,114	Q475*	probably null	Het
Cyp39a1	T	C	17: 43,746,577	Y436H	probably damaging	Het
Cyp3a25	T	A	5: 145,977,668	Q484L	probably benign	Het
Dnah1	A	G	14: 31,265,014	F3607S	probably damaging	Het
Dnali1	T	A	4: 125,065,530	K23N	possibly damaging	Het
Ecel1	T	C	1: 87,153,330	I313V	probably benign	Het
Ehhadh	C	A	16: 21,777,820	A53S	probably benign	Het
Epcam	T	C	17: 87,646,308	S277P	probably benign	Het
Fbxo10	T	C	4: 45,062,062	I155V	possibly damaging	Het
Fgd6	A	T	10: 94,044,344	K353N	possibly damaging	Het
Glce	A	T	9: 62,060,591	M426K	probably benign	Het
Glmp	A	T	3: 88,326,520	N228I	probably damaging	Het
Gm4787	C	A	12: 81,377,720	V555F	possibly damaging	Het
Gzmg	T	A	14: 56,157,446	T122S	probably benign	Het
Hace1	T	C	10: 45,700,970	V820A	probably damaging	Het
Igf2r	T	A	17: 12,718,795	D535V	probably damaging	Het
Kcnd3	A	G	3: 105,458,873	M20V	probably benign	Het
Kcnn3	T	G	3: 89,609,703	I473S	possibly damaging	Het
Klhl35	T	A	7: 99,473,239	F94Y	unknown	Het
Kmt2c	C	T	5: 25,281,680	V4712I	possibly damaging	Het
Lepr	A	G	4: 101,782,557	E740G	probably benign	Het
Lmod3	T	C	6: 97,248,299	D187G	probably benign	Het
Lsm3	C	T	6: 91,519,561	H49Y	probably benign	Het
Magi1	T	C	6: 93,697,365	S962G	probably damaging	Het
Man2b1	G	A	8: 85,095,613	R782Q	probably damaging	Het
Mical2	A	T	7: 112,303,767	K148N	probably damaging	Het
Nbeal1	C	T	1: 60,260,272	Q1256*	probably null	Het
Ncam1	G	T	9: 49,564,892	A299D	possibly damaging	Het
Ncapg	A	G	5: 45,681,794	D512G	probably damaging	Het
Nkiras2	A	G	11: 100,624,287	N28D	probably benign	Het
Nprl2	A	C	9: 107,543,061	K53T	probably damaging	Het
Nr4a3	T	A	4: 48,051,510	I88N	probably damaging	Het
Oas3	A	G	5: 120,756,966	I986T	possibly damaging	Het
Olfr809	A	T	10: 129,776,785	L305F	possibly damaging	Het
Pcsk1	A	T	13: 75,099,293	Y187F	possibly damaging	Het
Pgc	A	G	17: 47,728,776	T32A	probably benign	Het
Ranbp2	A	C	10: 58,485,861	D2660A	possibly damaging	Het
Retreg1	A	G	15: 25,843,479	R46G		Het
Rrbp1	C	A	2: 143,956,792	K1100N	probably benign	Het
Rsph10b	A	T	5: 143,967,232	T676S	probably benign	Het
Setdb1	T	A	3: 95,347,085	D195V	probably damaging	Het
Setdb1	A	T	3: 95,338,599	F672I	probably damaging	Het
Slc12a8	A	G	16: 33,625,086	E450G	probably benign	Het
Slc1a7	G	A	4: 108,012,276	V513M	probably benign	Het
Slc25a12	A	T	2: 71,275,189	V667E	unknown	Het
Slc39a3	T	C	10: 81,031,277	T212A	probably benign	Het
Slc45a1	C	T	4: 150,638,309	G373S	possibly damaging	Het
Snx11	G	A	11: 96,772,854	T53M	probably damaging	Het
Snx33	A	G	9: 56,925,340	F482L	possibly damaging	Het
Srebf2	C	T	15: 82,178,765	R468C	probably damaging	Het
Stk32a	C	T	18: 43,315,101	Q382*	probably null	Het
Sun3	C	A	11: 9,023,376	S167I	probably damaging	Het
Sycp2	A	G	2: 178,355,062	L1116P	probably damaging	Het
Thbs4	T	G	13: 92,752,447	T913P	probably damaging	Het
Trav8d-1	C	T	14: 52,778,827	Q57*	probably null	Het
Trio	C	G	15: 27,749,866	V2250L	probably benign	Het
Unc119b	A	T	5: 115,127,043	I204N	probably damaging	Het
Usp4	A	G	9: 108,378,471	E576G	probably damaging	Het
Uvssa	T	A	5: 33,409,504	L515Q	probably damaging	Het
Xkr8	T	C	4: 132,732,338	Y43C	probably damaging	Het
Xpo6	G	A	7: 126,169,254	L94F	probably benign	Het
Zbtb11	A	G	16: 56,006,020	K804R	probably damaging	Het
Zfp616	A	G	11: 74,084,068	R479G	probably benign	Het
Zfp661	T	C	2: 127,577,924	T99A	probably benign	Het
Zfp839	A	T	12: 110,855,098	Q115H	probably damaging	Het
Zyg11a	C	T	4: 108,189,568		probably null	Het

Other mutations in Gm5114

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Gm5114	APN	7	39,410,647 (GRCm38)	splice site	probably benign
IGL01295:Gm5114	APN	7	39,407,817 (GRCm38)	missense	probably damaging	1.00
IGL01349:Gm5114	APN	7	39,409,107 (GRCm38)	missense	probably benign
IGL01633:Gm5114	APN	7	39,408,066 (GRCm38)	missense	probably benign
IGL01634:Gm5114	APN	7	39,408,647 (GRCm38)	missense	probably benign
IGL02072:Gm5114	APN	7	39,411,402 (GRCm38)	missense	probably benign	0.00
FR4304:Gm5114	UTSW	7	39,411,106 (GRCm38)	missense	probably benign	0.00
FR4304:Gm5114	UTSW	7	39,411,105 (GRCm38)	missense	probably benign
R0034:Gm5114	UTSW	7	39,408,858 (GRCm38)	missense	possibly damaging	0.83
R0127:Gm5114	UTSW	7	39,408,456 (GRCm38)	missense	probably benign	0.00
R0328:Gm5114	UTSW	7	39,408,461 (GRCm38)	missense	probably damaging	1.00
R0387:Gm5114	UTSW	7	39,408,809 (GRCm38)	missense	probably benign	0.15
R0693:Gm5114	UTSW	7	39,408,764 (GRCm38)	missense	probably benign	0.00
R1006:Gm5114	UTSW	7	39,409,086 (GRCm38)	missense	probably damaging	1.00
R2039:Gm5114	UTSW	7	39,409,188 (GRCm38)	missense	probably damaging	1.00
R3433:Gm5114	UTSW	7	39,409,197 (GRCm38)	missense	probably benign	0.02
R3834:Gm5114	UTSW	7	39,408,737 (GRCm38)	missense	possibly damaging	0.69
R4320:Gm5114	UTSW	7	39,407,627 (GRCm38)	missense	probably damaging	1.00
R5214:Gm5114	UTSW	7	39,408,368 (GRCm38)	missense	probably benign	0.19
R5443:Gm5114	UTSW	7	39,408,865 (GRCm38)	missense	probably benign	0.00
R5471:Gm5114	UTSW	7	39,409,110 (GRCm38)	nonsense	probably null
R5707:Gm5114	UTSW	7	39,411,276 (GRCm38)	missense	probably benign	0.01
R6129:Gm5114	UTSW	7	39,408,600 (GRCm38)	missense	possibly damaging	0.71
R6234:Gm5114	UTSW	7	39,409,344 (GRCm38)	missense	probably benign	0.19
R6326:Gm5114	UTSW	7	39,408,155 (GRCm38)	missense	probably benign
R6443:Gm5114	UTSW	7	39,407,717 (GRCm38)	missense	possibly damaging	0.91
R6530:Gm5114	UTSW	7	39,408,090 (GRCm38)	missense	probably damaging	1.00
R6743:Gm5114	UTSW	7	39,408,573 (GRCm38)	missense	probably benign	0.42
R6770:Gm5114	UTSW	7	39,408,543 (GRCm38)	missense	possibly damaging	0.94
R6885:Gm5114	UTSW	7	39,408,156 (GRCm38)	missense	probably benign	0.01
R6980:Gm5114	UTSW	7	39,409,200 (GRCm38)	missense	probably benign	0.01
R7100:Gm5114	UTSW	7	39,408,284 (GRCm38)	missense	possibly damaging	0.52
R7215:Gm5114	UTSW	7	39,411,371 (GRCm38)	missense	probably benign	0.02
R7254:Gm5114	UTSW	7	39,408,966 (GRCm38)	missense	probably benign	0.35
R7343:Gm5114	UTSW	7	39,408,756 (GRCm38)	missense	probably damaging	1.00
R7366:Gm5114	UTSW	7	39,409,344 (GRCm38)	missense	possibly damaging	0.69
R7474:Gm5114	UTSW	7	39,407,980 (GRCm38)	missense	probably benign	0.01
R7499:Gm5114	UTSW	7	39,409,065 (GRCm38)	missense	possibly damaging	0.55
R8121:Gm5114	UTSW	7	39,408,128 (GRCm38)	missense	probably benign	0.15
R8201:Gm5114	UTSW	7	39,410,949 (GRCm38)	missense	probably damaging	0.98
R8212:Gm5114	UTSW	7	39,411,252 (GRCm38)	missense	probably benign	0.18
R8321:Gm5114	UTSW	7	39,410,849 (GRCm38)	missense	possibly damaging	0.85
R8725:Gm5114	UTSW	7	39,411,233 (GRCm38)	missense	probably benign	0.17
R8752:Gm5114	UTSW	7	39,408,503 (GRCm38)	missense	probably damaging	0.99
R8891:Gm5114	UTSW	7	39,408,294 (GRCm38)	missense	probably benign	0.05
R8934:Gm5114	UTSW	7	39,411,129 (GRCm38)	missense	probably benign	0.14
R8969:Gm5114	UTSW	7	39,409,308 (GRCm38)	missense	probably damaging	1.00
R9158:Gm5114	UTSW	7	39,411,062 (GRCm38)	missense	probably damaging	0.97
R9419:Gm5114	UTSW	7	39,408,116 (GRCm38)	missense	possibly damaging	0.92
R9453:Gm5114	UTSW	7	39,408,818 (GRCm38)	missense	probably damaging	0.99
Z1088:Gm5114	UTSW	7	39,408,447 (GRCm38)	missense	probably damaging	1.00
Z1177:Gm5114	UTSW	7	39,409,326 (GRCm38)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CCAAAGTCAGGATTGGTGTGTC -3'
(R):5'- AGAGGTAGCATCCAAGCTCTTC -3'

Sequencing Primer
(F):5'- GCCCTCTTTTATCTCAGGCATGG -3'
(R):5'- GGTAGCATCCAAGCTCTTCATCAAG -3'

Posted On

2020-01-23