Mutagenetix > Incidental Mutation

Incidental Mutation 'R8032:Gm49380'

618033

Institutional Source

Beutler Lab

Gene Symbol

Gm49380

Ensembl Gene

ENSMUSG00000111409

Gene Name

predicted gene, 49380

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R8032 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43977624-44024797 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44023000 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 416 (I416N)

Ref Sequence

ENSEMBL: ENSMUSP00000140405 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034654] [ENSMUST00000056328] [ENSMUST00000065379] [ENSMUST00000114815] [ENSMUST00000114816] [ENSMUST00000114818] [ENSMUST00000114821] [ENSMUST00000185479] [ENSMUST00000152956] [ENSMUST00000161381] [ENSMUST00000162126] [ENSMUST00000205500] [ENSMUST00000206295] [ENSMUST00000206308] [ENSMUST00000206769] [ENSMUST00000215685] [ENSMUST00000216511]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034654

SMART Domains

Protein: ENSMUSP00000034654
Gene: ENSMUSG00000034739

Domain	Start	End	E-Value	Type
transmembrane domain	67	89	N/A	INTRINSIC
low complexity region	119	132	N/A	INTRINSIC
CUB	150	259	3.6e-35	SMART
LDLa	265	302	1.5e-8	SMART
CUB	307	420	1.85e-37	SMART
Pfam:Fz	471	577	3e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000056328
AA Change: I416N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110478
Gene: ENSMUSG00000053128
AA Change: I416N

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
transmembrane domain	148	170	N/A	INTRINSIC
transmembrane domain	183	205	N/A	INTRINSIC
low complexity region	208	221	N/A	INTRINSIC
transmembrane domain	225	247	N/A	INTRINSIC
low complexity region	303	316	N/A	INTRINSIC
RING	371	412	1.57e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000065379
AA Change: I416N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000070060
Gene: ENSMUSG00000053128
AA Change: I416N

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
transmembrane domain	148	170	N/A	INTRINSIC
transmembrane domain	183	205	N/A	INTRINSIC
low complexity region	208	221	N/A	INTRINSIC
transmembrane domain	225	247	N/A	INTRINSIC
low complexity region	303	316	N/A	INTRINSIC
RING	371	412	1.57e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114815

SMART Domains

Protein: ENSMUSP00000110463
Gene: ENSMUSG00000079592

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
low complexity region	47	91	N/A	INTRINSIC
C1Q	97	235	2.09e-45	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114816

SMART Domains

Protein: ENSMUSP00000110464
Gene: ENSMUSG00000079592

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
low complexity region	47	91	N/A	INTRINSIC
C1Q	97	235	2.09e-45	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114818

SMART Domains

Protein: ENSMUSP00000110466
Gene: ENSMUSG00000079592

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
low complexity region	47	91	N/A	INTRINSIC
C1Q	97	235	2.09e-45	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114821

SMART Domains

Protein: ENSMUSP00000110469
Gene: ENSMUSG00000079592

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
low complexity region	47	91	N/A	INTRINSIC
C1Q	97	220	1.01e-29	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000185479
AA Change: I416N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140405
Gene: ENSMUSG00000111409
AA Change: I416N

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
transmembrane domain	148	170	N/A	INTRINSIC
transmembrane domain	183	205	N/A	INTRINSIC
low complexity region	208	221	N/A	INTRINSIC
transmembrane domain	225	247	N/A	INTRINSIC
low complexity region	303	316	N/A	INTRINSIC
RING	371	412	1.57e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000152956

SMART Domains

Protein: ENSMUSP00000123040
Gene: ENSMUSG00000079592

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
Pfam:Collagen	28	102	7.2e-10	PFAM
Pfam:C1q	105	138	1.5e-6	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000124568
Gene: ENSMUSG00000053128
AA Change: I55N

Domain	Start	End	E-Value	Type
RING	11	52	1.57e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161381

SMART Domains

Protein: ENSMUSP00000124456
Gene: ENSMUSG00000034739

Domain	Start	End	E-Value	Type
transmembrane domain	67	89	N/A	INTRINSIC
low complexity region	119	132	N/A	INTRINSIC
CUB	150	259	3.6e-35	SMART
LDLa	265	302	1.5e-8	SMART
CUB	307	420	1.85e-37	SMART
Pfam:Fz	465	576	9.1e-22	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000162126
AA Change: I416N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123938
Gene: ENSMUSG00000111409
AA Change: I416N

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	55	77	N/A	INTRINSIC
transmembrane domain	148	170	N/A	INTRINSIC
transmembrane domain	183	205	N/A	INTRINSIC
low complexity region	208	221	N/A	INTRINSIC
transmembrane domain	225	247	N/A	INTRINSIC
low complexity region	303	316	N/A	INTRINSIC
RING	371	412	1.57e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205500

Predicted Effect

probably benign
Transcript: ENSMUST00000206295

Predicted Effect

probably benign
Transcript: ENSMUST00000206308

Predicted Effect

probably benign
Transcript: ENSMUST00000206769

Predicted Effect

probably benign
Transcript: ENSMUST00000215685

Predicted Effect

probably damaging
Transcript: ENSMUST00000216511
AA Change: I295N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actrt2	T	A	4: 154,751,955 (GRCm39)	E60D	probably benign	Het
Adamts12	T	C	15: 11,259,189 (GRCm39)		probably null	Het
Ak9	T	A	10: 41,300,616 (GRCm39)	C1609S	unknown	Het
Aox1	A	T	1: 58,389,442 (GRCm39)	Y1147F	probably benign	Het
Atf7ip	T	C	6: 136,542,110 (GRCm39)	F615L	probably benign	Het
BC005624	A	G	2: 30,865,901 (GRCm39)		probably null	Het
BC024063	T	A	10: 81,943,738 (GRCm39)	M33K	probably benign	Het
Bmpr2	T	A	1: 59,906,502 (GRCm39)	S532T	probably benign	Het
Cast	G	A	13: 74,883,360 (GRCm39)	Q292*	probably null	Het
Ccdc7a	G	T	8: 129,551,864 (GRCm39)	H1249N	unknown	Het
Cd177	C	T	7: 24,455,594 (GRCm39)	W309*	probably null	Het
Col15a1	T	C	4: 47,288,108 (GRCm39)	I4T	unknown	Het
Cyp2c39	A	G	19: 39,499,426 (GRCm39)	I38V	probably benign	Het
Dmpk	A	G	7: 18,821,978 (GRCm39)	D312G	possibly damaging	Het
Dnah1	T	C	14: 30,993,505 (GRCm39)	D2892G	probably damaging	Het
Dnah10	G	A	5: 124,823,676 (GRCm39)	D566N	probably damaging	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Exd2	T	A	12: 80,536,427 (GRCm39)	D352E	probably benign	Het
Fgf8	A	T	19: 45,725,676 (GRCm39)	L187Q	probably damaging	Het
Frrs1	A	G	3: 116,672,009 (GRCm39)	I36V	probably benign	Het
Gga2	A	T	7: 121,620,210 (GRCm39)		probably null	Het
Gigyf2	C	G	1: 87,334,735 (GRCm39)	H249D	unknown	Het
Gli2	A	T	1: 118,763,900 (GRCm39)	M1417K	probably damaging	Het
Gm10801	C	CGTA	2: 98,494,152 (GRCm39)		probably null	Het
Gpr137	T	C	19: 6,919,480 (GRCm39)	T16A	unknown	Het
Grid1	T	A	14: 35,045,316 (GRCm39)	D386E	probably benign	Het
Grm3	A	G	5: 9,562,272 (GRCm39)	V526A	probably benign	Het
Havcr2	A	T	11: 46,370,118 (GRCm39)	I231F	probably damaging	Het
Icam5	C	A	9: 20,944,514 (GRCm39)	R72S	probably benign	Het
Ighv9-2	T	A	12: 114,072,764 (GRCm39)	I70L	possibly damaging	Het
Inpp5e	C	T	2: 26,286,865 (GRCm39)	S119N		Het
Kash5	CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC	CGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTC	7: 44,837,608 (GRCm39)		probably benign	Het
Kash5	TCAGGC	TCAGGCACAGGC	7: 44,837,630 (GRCm39)		probably benign	Het
Kxd1	T	A	8: 70,966,791 (GRCm39)	D110V	possibly damaging	Het
Mbd4	A	G	6: 115,821,594 (GRCm39)	S474P	probably damaging	Het
Meaf6	C	A	4: 124,996,795 (GRCm39)	H168Q	unknown	Het
Nek2	T	C	1: 191,558,457 (GRCm39)	L254S	probably damaging	Het
Nhej1	T	C	1: 75,007,959 (GRCm39)	D104G	probably benign	Het
Nmnat3	A	G	9: 98,292,271 (GRCm39)	E172G	probably benign	Het
Npm3	A	T	19: 45,736,682 (GRCm39)	D152E	probably benign	Het
Nsd1	A	T	13: 55,458,196 (GRCm39)	K2103M	probably damaging	Het
Ntrk3	C	T	7: 78,005,807 (GRCm39)	R518H	probably damaging	Het
Nup210	T	A	6: 91,051,331 (GRCm39)	T351S	probably benign	Het
Or10h5	T	A	17: 33,434,924 (GRCm39)	R131S	possibly damaging	Het
Or9g19	A	G	2: 85,600,210 (GRCm39)	I22V	probably benign	Het
Otof	T	A	5: 30,619,142 (GRCm39)	M1L	probably benign	Het
Pacs2	T	A	12: 113,025,278 (GRCm39)	Y477N	probably damaging	Het
Panx3	A	G	9: 37,572,966 (GRCm39)	Y195H	probably damaging	Het
Pcsk5	T	C	19: 17,692,151 (GRCm39)	R178G	probably damaging	Het
Pde7a	A	G	3: 19,314,429 (GRCm39)	S56P	possibly damaging	Het
Prcp	T	G	7: 92,577,906 (GRCm39)	C392G	probably damaging	Het
Prkdc	A	G	16: 15,597,315 (GRCm39)	K2825R	probably benign	Het
Ptpn12	T	C	5: 21,203,041 (GRCm39)	H579R	probably benign	Het
Rbl1	A	T	2: 157,029,918 (GRCm39)	Y468*	probably null	Het
Rbmxl2	A	G	7: 106,809,429 (GRCm39)	Y238C	probably damaging	Het
Scgb2b20	A	T	7: 33,065,724 (GRCm39)	M1K	probably null	Het
Slc25a18	G	A	6: 120,769,452 (GRCm39)	G237D	probably damaging	Het
Slc9a3	G	A	13: 74,305,763 (GRCm39)	G260D	probably damaging	Het
Sorcs1	A	T	19: 50,463,846 (GRCm39)	S201R	probably benign	Het
Strip1	A	C	3: 107,525,394 (GRCm39)	D547E	probably damaging	Het
Thsd7a	C	T	6: 12,555,287 (GRCm39)	C199Y		Het
Top1mt	A	G	15: 75,540,572 (GRCm39)	V233A	probably damaging	Het
Tpp2	C	G	1: 44,014,628 (GRCm39)	P656A	possibly damaging	Het
Ttc1	A	T	11: 43,628,806 (GRCm39)	L193Q	probably damaging	Het
Ttll4	T	A	1: 74,735,632 (GRCm39)	D1013E	possibly damaging	Het
Unc5a	T	C	13: 55,144,299 (GRCm39)	V208A	possibly damaging	Het
Vmn1r185	C	A	7: 26,310,558 (GRCm39)	V316F	probably benign	Het
Vmn2r112	T	A	17: 22,822,375 (GRCm39)	V351E	probably benign	Het
Wdfy4	T	A	14: 32,751,043 (GRCm39)	K2391*	probably null	Het
Zfhx3	T	C	8: 109,677,854 (GRCm39)	V2968A	possibly damaging	Het
Zfp551	G	A	7: 12,152,487 (GRCm39)	A82V	possibly damaging	Het

Other mutations in Gm49380

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R7442:Gm49380	UTSW	9	44,023,709 (GRCm39)	missense	probably benign	0.06
R7896:Gm49380	UTSW	9	44,024,096 (GRCm39)	missense	probably damaging	1.00
R8140:Gm49380	UTSW	9	44,023,269 (GRCm39)	missense	probably benign	0.00
R8675:Gm49380	UTSW	9	44,023,187 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AGTGTTACTCTGTCCCACCCAG -3'
(R):5'- GACCCATGGAAGCTGTTGAAG -3'

Sequencing Primer
(F):5'- GGAGTCTTCCAGAGTATTCCAAGC -3'
(R):5'- CATGGAAGCTGTTGAAGGAGCAAG -3'

Posted On

2020-01-23