Mutagenetix > Incidental Mutation

Incidental Mutation 'R1300:Gm5346'

158300

Institutional Source

Beutler Lab

Gene Symbol

Gm5346

Ensembl Gene

ENSMUSG00000050190

Gene Name

predicted gene 5346

Synonyms

MMRRC Submission

039366-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R1300 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43624951-43627276 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 43626844 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 114 (Y114*)

Ref Sequence

ENSEMBL: ENSMUSP00000058858 (fasta)

Gene Model

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

AlphaFold

Q7M766

Predicted Effect

probably null
Transcript: ENSMUST00000056023
AA Change: Y114*

SMART Domains

Protein: ENSMUSP00000058858
Gene: ENSMUSG00000050190
AA Change: Y114*

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

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,244,808	I2535T	probably damaging	Het
Ank3	A	G	10: 70,004,665	I952V	probably benign	Het
Ankar	A	C	1: 72,643,164	V1414G	probably benign	Het
Arl2	A	G	19: 6,141,073	M10T	probably benign	Het
Arpp21	A	G	9: 112,143,374	I352T	probably damaging	Het
BC067074	T	C	13: 113,366,160	F133S	probably damaging	Het
Cacna1e	T	A	1: 154,398,673	H2162L	probably benign	Het
Cep170b	A	C	12: 112,737,257	M622L	probably benign	Het
Cped1	T	C	6: 22,119,553	V337A	probably benign	Het
Cpn2	T	A	16: 30,259,663	T407S	probably benign	Het
Cpne4	T	C	9: 104,993,134	W263R	probably damaging	Het
Crtc1	A	G	8: 70,387,539		probably null	Het
Dennd5a	A	T	7: 109,919,407	I485N	probably benign	Het
Dnah6	T	C	6: 73,124,709	Q1892R	probably benign	Het
Dse	G	A	10: 34,152,415	A893V	probably benign	Het
Dsg1a	T	G	18: 20,332,149	S466A	probably benign	Het
Dstyk	T	C	1: 132,449,913	V419A	probably benign	Het
Eif2ak4	T	C	2: 118,463,983	V1125A	possibly damaging	Het
Ep400	C	A	5: 110,673,560	G2576C	probably damaging	Het
Eps15l1	A	T	8: 72,391,902	D162E	probably damaging	Het
Fstl4	C	A	11: 53,068,627	T165N	probably benign	Het
Gm6904	A	T	14: 59,251,114	V78D	probably damaging	Het
Gm8674	T	C	13: 49,901,722		noncoding transcript	Het
Gtsf2	T	A	15: 103,444,353	L39F	possibly damaging	Het
Hck	A	C	2: 153,134,147	D202A	possibly damaging	Het
Il12b	T	A	11: 44,408,076		probably null	Het
Irf4	T	C	13: 30,757,585	L307P	probably damaging	Het
Keg1	G	A	19: 12,719,004	R184Q	probably damaging	Het
Kmt2c	T	C	5: 25,405,454	D218G	probably damaging	Het
Map1b	T	C	13: 99,432,521	K1231E	unknown	Het
Mapkbp1	T	C	2: 120,013,655	Y293H	probably benign	Het
Mfsd8	A	T	3: 40,823,898	D310E	probably benign	Het
Mmp9	A	T	2: 164,948,956	D88V	probably damaging	Het
Muc5ac	G	T	7: 141,816,929	C2522F	possibly damaging	Het
Myo1e	A	T	9: 70,301,783	I110F	probably damaging	Het
Neu1	A	T	17: 34,934,338	Y279F	possibly damaging	Het
Nhsl1	A	G	10: 18,408,461	H50R	probably benign	Het
Nlrp3	C	T	11: 59,555,768	S780F	possibly damaging	Het
Npc1l1	T	G	11: 6,227,859	D517A	probably damaging	Het
Olfr299	T	C	7: 86,465,743	F111L	probably benign	Het
Olfr30	T	C	11: 58,455,841	Y36C	probably damaging	Het
Olfr392	T	C	11: 73,814,246	T279A	probably benign	Het
Olfr594	G	A	7: 103,220,117	R133Q	probably benign	Het
P3h2	C	A	16: 25,997,236	E176*	probably null	Het
Parp10	C	A	15: 76,241,990	D333Y	possibly damaging	Het
Pcdhb12	C	T	18: 37,437,397	A532V	possibly damaging	Het
Pde2a	A	T	7: 101,510,404	T818S	possibly damaging	Het
Phip	A	T	9: 82,876,747	L1450Q	probably benign	Het
Pinx1	A	G	14: 63,919,410	E262G	probably benign	Het
Ppargc1a	T	C	5: 51,548,672	E19G	probably damaging	Het
Pum1	T	C	4: 130,765,961	I921T	probably damaging	Het
Rgs22	T	A	15: 36,101,762	H106L	probably benign	Het
Slc10a6	T	C	5: 103,606,684	D327G	probably benign	Het
Syt1	A	T	10: 108,631,821	V205D	possibly damaging	Het
Tep1	C	T	14: 50,827,055		probably null	Het
Thnsl2	T	A	6: 71,134,191	Q231L	probably damaging	Het
Ttc4	T	A	4: 106,667,566	H304L	probably damaging	Het
Unc5c	G	A	3: 141,828,543	V923M	possibly damaging	Het
Zfp777	T	C	6: 48,025,770	E506G	probably benign	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
IGL02951:Gm5346	APN	8	43627088	missense	possibly damaging	0.62
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
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

Predicted Primers

PCR Primer
(F):5'- CATCTAGGGCCGCTGACATTTCTTC -3'
(R):5'- GGCTGTCCTATAGCCTGAGCATTG -3'

Sequencing Primer
(F):5'- GGTCCACCAATTCTCATAGGG -3'
(R):5'- CTGAGCATTGGGGGGCAG -3'

Posted On

2014-02-18