Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02951:Gm5346'

365970

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm5346

Ensembl Gene

ENSMUSG00000050190

Gene Name

predicted gene 5346

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

IGL02951

Quality Score

Status

Chromosome

Chromosomal Location

43624951-43627276 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 43627088 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 33 (H33P)

Ref Sequence

ENSEMBL: ENSMUSP00000058858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056023]

AlphaFold

Q7M766

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056023
AA Change: H33P

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000058858
Gene: ENSMUSG00000050190
AA Change: H33P

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
Pfam:Pep_M12B_propep	39	159	1.3e-18	PFAM
Pfam:Reprolysin_5	205	384	1.1e-15	PFAM
Pfam:Reprolysin_4	205	393	6.2e-9	PFAM
Pfam:Reprolysin	207	397	1.7e-46	PFAM
Pfam:Reprolysin_2	223	389	5.7e-14	PFAM
Pfam:Reprolysin_3	231	352	2.6e-13	PFAM
DISIN	416	491	2.48e-38	SMART
ACR	492	628	3.4e-65	SMART
EGF	634	664	2.69e1	SMART
transmembrane domain	685	707	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	A	10: 76,454,702		probably benign	Het
Acot10	G	A	15: 20,665,782	T291I	probably benign	Het
Atp13a3	A	G	16: 30,338,621		probably null	Het
Atp2a1	C	T	7: 126,450,227	V548M	possibly damaging	Het
Bsn	G	A	9: 108,115,613	S980L	probably damaging	Het
Ccdc158	A	G	5: 92,650,006	M425T	probably damaging	Het
Cdh23	A	G	10: 60,311,364	L2733S	probably damaging	Het
Chd3	C	T	11: 69,361,048		probably null	Het
Dock2	T	C	11: 34,310,448		probably benign	Het
Elfn2	T	C	15: 78,671,882	K822E	probably damaging	Het
Eps15l1	G	A	8: 72,358,396	S764L	probably benign	Het
Etl4	C	A	2: 20,801,537		probably benign	Het
Faap24	C	A	7: 35,392,951	K180N	probably damaging	Het
Fam205a1	C	T	4: 42,850,696	E487K	probably benign	Het
Fhod1	G	A	8: 105,331,230	R888W	probably damaging	Het
Fus	T	C	7: 127,981,837		probably benign	Het
Gm3453	T	C	14: 5,976,168	E201G	possibly damaging	Het
Gnpat	G	T	8: 124,870,905	D69Y	probably benign	Het
Gpaa1	T	A	15: 76,332,819		probably benign	Het
Gsta1	A	T	9: 78,242,537	K211*	probably null	Het
Lct	G	T	1: 128,300,211	Q1182K	probably damaging	Het
Mroh1	T	C	15: 76,427,636	L523P	probably damaging	Het
Mrpl46	A	G	7: 78,775,452		probably benign	Het
Mst1r	G	T	9: 107,908,204	V354F	possibly damaging	Het
Myo15b	A	G	11: 115,881,301	D299G	probably damaging	Het
Myo6	G	A	9: 80,264,234	V506I	possibly damaging	Het
Nadk	A	C	4: 155,587,476	K271Q	probably benign	Het
Nbas	A	G	12: 13,362,541	R954G	probably benign	Het
Nbr1	T	A	11: 101,571,979		probably null	Het
Nup88	T	C	11: 70,944,872	D587G	possibly damaging	Het
Oas1a	A	T	5: 120,905,664	F135Y	probably damaging	Het
Obscn	A	G	11: 58,994,513		probably benign	Het
Odf3l2	T	C	10: 79,639,977	N251S	probably benign	Het
Olfr1290	T	G	2: 111,490,120	I13L	probably benign	Het
Parp14	G	A	16: 35,858,533	T355I	probably benign	Het
Pdgfd	G	T	9: 6,288,494	L43F	probably damaging	Het
Pou5f2	T	C	13: 78,025,118	S60P	probably benign	Het
Prp2	A	G	6: 132,599,825	N25S	unknown	Het
Ptprq	A	T	10: 107,667,460	F779Y	probably benign	Het
Rims2	C	T	15: 39,534,938	R1078C	probably damaging	Het
Rnf38	G	T	4: 44,129,619	S425*	probably null	Het
Rps21	T	A	2: 180,258,047	I59N	probably damaging	Het
Scn5a	A	T	9: 119,495,685	F1359Y	probably damaging	Het
Slc35b2	A	G	17: 45,564,768	E67G	probably damaging	Het
Slc37a2	A	G	9: 37,255,315	F15L	probably benign	Het
Snapc4	A	C	2: 26,370,835	N465K	probably benign	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Taco1	A	G	11: 106,069,527	N98S	probably benign	Het
Tcea3	T	C	4: 136,257,988		probably null	Het
Thada	T	C	17: 84,444,028	S507G	probably benign	Het
Tmem132b	T	A	5: 125,787,547	C906S	probably damaging	Het
Trpm2	A	T	10: 77,929,278	I963N	possibly damaging	Het
Usp10	A	G	8: 119,947,086	T397A	probably benign	Het
Usp3	G	A	9: 66,542,550	R160*	probably null	Het
Utp15	T	C	13: 98,257,952	Y144C	probably damaging	Het
Xpc	G	A	6: 91,506,849	R172W	probably damaging	Het

Other mutations in Gm5346

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Gm5346	APN	8	43625381	missense	probably benign	0.12
IGL00391:Gm5346	APN	8	43625629	missense	probably damaging	1.00
IGL00422:Gm5346	APN	8	43626351	missense	probably damaging	1.00
IGL00664:Gm5346	APN	8	43625969	missense	probably benign
IGL01095:Gm5346	APN	8	43626096	missense	probably benign	0.22
IGL01113:Gm5346	APN	8	43626152	missense	probably damaging	1.00
IGL01444:Gm5346	APN	8	43626433	missense	probably benign	0.06
IGL01782:Gm5346	APN	8	43626735	missense	probably benign	0.01
IGL01921:Gm5346	APN	8	43625511	missense	probably damaging	0.96
IGL01964:Gm5346	APN	8	43626761	missense	probably benign	0.00
IGL02139:Gm5346	APN	8	43625578	missense	probably benign	0.01
IGL02555:Gm5346	APN	8	43625268	missense	probably damaging	1.00
R0056:Gm5346	UTSW	8	43625503	nonsense	probably null
R0218:Gm5346	UTSW	8	43626440	missense	probably benign	0.00
R0530:Gm5346	UTSW	8	43626531	missense	probably benign	0.00
R0925:Gm5346	UTSW	8	43626303	missense	probably benign	0.11
R0927:Gm5346	UTSW	8	43625123	missense	probably benign	0.00
R0975:Gm5346	UTSW	8	43625118	missense	probably benign
R1300:Gm5346	UTSW	8	43626844	nonsense	probably null
R1728:Gm5346	UTSW	8	43625583	missense	probably damaging	1.00
R1729:Gm5346	UTSW	8	43625583	missense	probably damaging	1.00
R1801:Gm5346	UTSW	8	43625917	nonsense	probably null
R1869:Gm5346	UTSW	8	43625095	nonsense	probably null
R1870:Gm5346	UTSW	8	43625095	nonsense	probably null
R1871:Gm5346	UTSW	8	43625095	nonsense	probably null
R1992:Gm5346	UTSW	8	43627139	missense	probably benign	0.44
R2008:Gm5346	UTSW	8	43627037	missense	probably benign	0.00
R2013:Gm5346	UTSW	8	43626405	missense	possibly damaging	0.81
R2022:Gm5346	UTSW	8	43625917	nonsense	probably null
R2175:Gm5346	UTSW	8	43625438	missense	probably benign
R2875:Gm5346	UTSW	8	43627140	nonsense	probably null
R3406:Gm5346	UTSW	8	43626052	nonsense	probably null
R3845:Gm5346	UTSW	8	43626632	missense	probably benign	0.00
R4033:Gm5346	UTSW	8	43626673	missense	probably benign	0.28
R4072:Gm5346	UTSW	8	43626350	missense	probably damaging	1.00
R4074:Gm5346	UTSW	8	43626350	missense	probably damaging	1.00
R4075:Gm5346	UTSW	8	43626350	missense	probably damaging	1.00
R4076:Gm5346	UTSW	8	43626350	missense	probably damaging	1.00
R4153:Gm5346	UTSW	8	43626527	missense	probably benign	0.04
R4330:Gm5346	UTSW	8	43626250	missense	probably benign
R4612:Gm5346	UTSW	8	43626550	missense	probably benign	0.09
R4662:Gm5346	UTSW	8	43627079	missense	probably benign	0.26
R5032:Gm5346	UTSW	8	43626471	missense	probably damaging	1.00
R5077:Gm5346	UTSW	8	43627163	missense	possibly damaging	0.79
R5504:Gm5346	UTSW	8	43625282	missense	probably damaging	1.00
R5697:Gm5346	UTSW	8	43626579	missense	probably damaging	1.00
R6232:Gm5346	UTSW	8	43625912	missense	probably benign	0.00
R6233:Gm5346	UTSW	8	43625912	missense	probably benign	0.00
R6234:Gm5346	UTSW	8	43625912	missense	probably benign	0.00
R6235:Gm5346	UTSW	8	43625912	missense	probably benign	0.00
R6241:Gm5346	UTSW	8	43626096	missense	probably benign	0.22
R6392:Gm5346	UTSW	8	43626001	missense	probably benign	0.09
R6439:Gm5346	UTSW	8	43625951	missense	probably damaging	1.00
R6454:Gm5346	UTSW	8	43626808	missense	probably damaging	0.96
R6455:Gm5346	UTSW	8	43626152	missense	probably damaging	1.00
R6767:Gm5346	UTSW	8	43626914	missense	probably damaging	1.00
R6774:Gm5346	UTSW	8	43625183	missense	probably benign	0.00
R6877:Gm5346	UTSW	8	43625237	missense	probably benign	0.02
R6911:Gm5346	UTSW	8	43625109	missense	probably benign	0.02
R7211:Gm5346	UTSW	8	43625877	missense	probably damaging	1.00
R7597:Gm5346	UTSW	8	43625244	missense	probably damaging	1.00
R7602:Gm5346	UTSW	8	43626666	missense	probably damaging	0.99
R7797:Gm5346	UTSW	8	43626374	missense	probably benign	0.04
R7981:Gm5346	UTSW	8	43625813	missense	probably damaging	1.00
R8154:Gm5346	UTSW	8	43625387	missense	probably damaging	0.97
R8215:Gm5346	UTSW	8	43626501	missense	probably benign	0.05
R9180:Gm5346	UTSW	8	43626933	nonsense	probably null
R9307:Gm5346	UTSW	8	43626267	missense	probably benign	0.00
R9733:Gm5346	UTSW	8	43626149	missense	possibly damaging	0.94
RF001:Gm5346	UTSW	8	43626905	missense	possibly damaging	0.79
Z1177:Gm5346	UTSW	8	43626546	missense	probably damaging	0.99

Posted On

2015-12-18