Mutagenetix > Incidental Mutation

Incidental Mutation 'R9733:Gm5346'

731552

Institutional Source

Beutler Lab

Gene Symbol

Gm5346

Ensembl Gene

ENSMUSG00000050190

Gene Name

predicted gene 5346

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9733 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43624951-43627276 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43626149 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 346 (N346S)

Ref Sequence

ENSEMBL: ENSMUSP00000058858 (fasta)

Gene Model

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

AlphaFold

Q7M766

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056023
AA Change: N346S

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000058858
Gene: ENSMUSG00000050190
AA Change: N346S

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: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	C	T	14: 4,334,795		probably benign	Het
4930595D18Rik	T	A	12: 111,161,820		probably benign	Het
4932438A13Rik	T	A	3: 37,048,583	M1437K		Het
Alpi	C	T	1: 87,100,794	A125T	probably benign	Het
Alppl2	T	A	1: 87,087,235	H468L	probably damaging	Het
Arhgef12	A	T	9: 42,989,998	L836*	probably null	Het
Arv1	T	C	8: 124,731,919	Y261H	probably damaging	Het
Atf6	C	T	1: 170,834,833	S286N	probably benign	Het
Atl3	G	A	19: 7,532,340	G478R	probably damaging	Het
Avil	C	T	10: 127,007,842	R184C	probably damaging	Het
B020004J07Rik	A	G	4: 101,835,768	V345A	possibly damaging	Het
Bcl6b	A	G	11: 70,228,497	I131T	probably damaging	Het
Catsper3	T	C	13: 55,798,939	S150P	probably damaging	Het
Cd7	A	G	11: 121,037,811	S132P	probably benign	Het
Cfh	T	C	1: 140,088,795	D1142G	probably damaging	Het
Clca4b	T	G	3: 144,915,511	K601Q	probably benign	Het
Cp	A	G	3: 19,978,962	H651R	probably damaging	Het
Cyp2s1	T	A	7: 25,808,104	T307S	probably damaging	Het
Dcaf11	A	G	14: 55,565,713	D328G	probably damaging	Het
Eapp	A	T	12: 54,692,956	S25R	probably damaging	Het
Ebag9	T	A	15: 44,627,637		probably null	Het
Exog	G	A	9: 119,462,520	E288K	possibly damaging	Het
Fads2	A	T	19: 10,070,576	Y265N	probably damaging	Het
Fam234b	T	A	6: 135,217,010	S220R	possibly damaging	Het
Fcgbp	T	A	7: 28,103,587	C1539S	probably damaging	Het
Fuk	T	C	8: 110,888,931	T589A	probably benign	Het
Fv1	C	T	4: 147,870,164	R396W	probably damaging	Het
Fv1	T	C	4: 147,870,197	F407L	probably benign	Het
Glp2r	T	C	11: 67,757,541	T112A	probably benign	Het
Hydin	T	C	8: 110,535,379	I2704T	probably benign	Het
Ighm	T	A	12: 113,422,477	E84D	probably benign	Het
Ikzf5	A	G	7: 131,392,283	V205A	probably benign	Het
Kcnt1	G	T	2: 25,907,339	V844L	probably benign	Het
Kif2a	A	C	13: 106,969,796	S528R	probably damaging	Het
Klhl29	G	A	12: 5,140,641	T118M	probably damaging	Het
Krt4	C	A	15: 101,919,129	G492C	unknown	Het
Lama1	T	A	17: 67,809,945	I2441N		Het
Lin7a	T	C	10: 107,412,044	V192A	possibly damaging	Het
March8	T	A	6: 116,402,029	V308D	probably damaging	Het
Mgat5b	T	C	11: 116,947,248	S238P	possibly damaging	Het
Mrps25	A	G	6: 92,178,734	S73P	probably damaging	Het
Muc6	G	T	7: 141,636,397	P2788T	unknown	Het
Ncf1	T	C	5: 134,222,045	T347A	probably benign	Het
Ndufaf4	T	C	4: 24,903,177	M122T	probably benign	Het
Nfil3	C	T	13: 52,967,555	A438T	probably damaging	Het
Noc2l	T	G	4: 156,243,565	I504S	probably damaging	Het
Nphs1	T	C	7: 30,467,530	C735R	probably damaging	Het
Olfr1166	C	A	2: 88,124,656	V110L	probably damaging	Het
Olfr1380	T	C	11: 49,564,134	L71P	probably damaging	Het
Olfr6	A	C	7: 106,956,639	L99R	possibly damaging	Het
Olfr981	A	T	9: 40,022,875	S161C	probably benign	Het
Pcdhac1	A	G	18: 37,092,453	H773R	probably benign	Het
Pcnt	A	G	10: 76,401,480	V1324A	probably benign	Het
Pcsk4	T	C	10: 80,322,200	Y568C	probably damaging	Het
Pdlim1	A	T	19: 40,230,596	M197K	probably damaging	Het
Plekho1	C	T	3: 95,995,779	G7S	probably benign	Het
Prl7d1	A	C	13: 27,714,356	S57A	probably benign	Het
Prpf3	A	G	3: 95,834,200	V548A	possibly damaging	Het
Prss56	C	T	1: 87,183,497	P2L	possibly damaging	Het
Ric1	A	G	19: 29,602,630	D1277G	possibly damaging	Het
Rnf19b	T	A	4: 129,084,019	D676E	probably damaging	Het
Rph3a	T	A	5: 120,962,458	T126S	probably benign	Het
Sh3gl3	T	C	7: 82,268,354		probably null	Het
Slc14a1	C	A	18: 78,109,592	A367S	probably damaging	Het
Slc35f2	T	C	9: 53,801,101	V126A	probably benign	Het
Snrnp200	A	T	2: 127,226,320	Q860L	probably damaging	Het
Srbd1	T	C	17: 86,115,283	N435S	probably damaging	Het
Tab2	A	G	10: 7,919,450	S349P	possibly damaging	Het
Tie1	A	T	4: 118,472,986	W1040R	probably null	Het
Tnni3k	A	T	3: 154,856,607	Y678N	probably damaging	Het
Trav12-3	T	C	14: 53,622,017	V40A	possibly damaging	Het
Ttn	G	A	2: 76,746,035	S24838L	probably damaging	Het
Ttn	A	G	2: 76,895,316	W6158R	unknown	Het
Vegfa	T	C	17: 46,024,475	S298G	probably damaging	Het
Zer1	T	C	2: 30,107,631	K421R	probably benign	Het
Zfp959	C	A	17: 55,897,866	T301N	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
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
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'- ACCAAGTTATTGCCACACATG -3'
(R):5'- AAATGTCAGCGGCCCTAGATG -3'

Sequencing Primer
(F):5'- CACACATGGTCGGCACC -3'
(R):5'- CGGCCCTAGATGCATTCTGTAG -3'

Posted On

2022-11-14