Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00835:Smgc'

14159

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Smgc

Ensembl Gene

ENSMUSG00000047295

Gene Name

submandibular gland protein C

Synonyms

Sfc21, DXImx49e, 2310010P21Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL00835

Quality Score

Status

Chromosome

Chromosomal Location

91838265-91861438 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91844420 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 121 (D121V)

Ref Sequence

ENSEMBL: ENSMUSP00000118530 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000088555] [ENSMUST00000100293] [ENSMUST00000109276] [ENSMUST00000109277] [ENSMUST00000126508] [ENSMUST00000130014]

AlphaFold

Q6JHY2

Predicted Effect

probably damaging
Transcript: ENSMUST00000088555
AA Change: D167V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000085915
Gene: ENSMUSG00000047295
AA Change: D167V

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
internal_repeat_1	55	224	2.76e-22	PROSPERO
low complexity region	225	235	N/A	INTRINSIC
low complexity region	256	270	N/A	INTRINSIC
internal_repeat_1	294	464	2.76e-22	PROSPERO
low complexity region	563	574	N/A	INTRINSIC
low complexity region	609	626	N/A	INTRINSIC
low complexity region	652	667	N/A	INTRINSIC
low complexity region	677	701	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000100293
AA Change: D167V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097866
Gene: ENSMUSG00000047295
AA Change: D167V

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
internal_repeat_2	32	180	5.58e-9	PROSPERO
internal_repeat_1	55	224	1.24e-22	PROSPERO
low complexity region	225	235	N/A	INTRINSIC
low complexity region	256	270	N/A	INTRINSIC
internal_repeat_1	294	464	1.24e-22	PROSPERO
internal_repeat_2	420	569	5.58e-9	PROSPERO
low complexity region	576	593	N/A	INTRINSIC
low complexity region	619	634	N/A	INTRINSIC
low complexity region	644	668	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109276

SMART Domains

Protein: ENSMUSP00000104899
Gene: ENSMUSG00000047295

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	76	91	N/A	INTRINSIC
low complexity region	101	125	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109277

SMART Domains

Protein: ENSMUSP00000104900
Gene: ENSMUSG00000047295

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	47	62	N/A	INTRINSIC
low complexity region	72	96	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123935

Predicted Effect

probably damaging
Transcript: ENSMUST00000126508
AA Change: D123V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120826
Gene: ENSMUSG00000047295
AA Change: D123V

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000130014
AA Change: D121V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118530
Gene: ENSMUSG00000047295
AA Change: D121V

Domain	Start	End	E-Value	Type
internal_repeat_1	113	156	5.82e-16	PROSPERO
low complexity region	179	189	N/A	INTRINSIC
low complexity region	210	224	N/A	INTRINSIC
internal_repeat_1	233	276	5.82e-16	PROSPERO
low complexity region	304	319	N/A	INTRINSIC
low complexity region	329	353	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132674

SMART Domains

Protein: ENSMUSP00000120578
Gene: ENSMUSG00000047295

Domain	Start	End	E-Value	Type
internal_repeat_1	12	37	9.28e-9	PROSPERO
low complexity region	180	191	N/A	INTRINSIC
internal_repeat_1	194	219	9.28e-9	PROSPERO
low complexity region	226	243	N/A	INTRINSIC
low complexity region	269	284	N/A	INTRINSIC
low complexity region	294	318	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136172

SMART Domains

Protein: ENSMUSP00000119575
Gene: ENSMUSG00000047295

Domain	Start	End	E-Value	Type
low complexity region	24	34	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC
low complexity region	155	166	N/A	INTRINSIC
low complexity region	201	218	N/A	INTRINSIC
low complexity region	244	259	N/A	INTRINSIC
low complexity region	269	288	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143271

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160242

SMART Domains

Protein: ENSMUSP00000125205
Gene: ENSMUSG00000044021

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
low complexity region	21	34	N/A	INTRINSIC
VWD	47	198	1.31e-13	SMART
Pfam:C8	221	293	1.1e-8	PFAM
Pfam:TIL	298	353	1.6e-11	PFAM
VWD	383	545	1.58e-25	SMART
C8	577	651	8.71e-20	SMART
Pfam:TIL	654	711	2.1e-7	PFAM
Pfam:TIL	753	813	5.2e-8	PFAM
VWD	842	1005	2.36e-47	SMART
C8	1041	1115	1.84e-27	SMART
low complexity region	1220	1254	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,302,733	D1023G	probably damaging	Het
Agbl3	A	G	6: 34,799,732	D391G	probably damaging	Het
Aggf1	C	A	13: 95,362,477	V450F	probably damaging	Het
Alms1	A	G	6: 85,622,134	Y1314C	probably damaging	Het
Arfgef3	A	G	10: 18,661,358	F192L	probably benign	Het
Arnt	A	G	3: 95,490,340	D541G	probably damaging	Het
AU040320	A	G	4: 126,757,071		probably null	Het
Cep290	A	T	10: 100,563,380	R2255*	probably null	Het
Creb3l4	T	A	3: 90,241,987	H138L	possibly damaging	Het
Crispld2	G	A	8: 120,010,648	R46H	probably damaging	Het
Crlf3	T	C	11: 80,047,675	T379A	probably benign	Het
Ctsb	T	A	14: 63,135,650	D85E	probably damaging	Het
Etv2	A	T	7: 30,633,667	D325E	probably benign	Het
Fggy	T	A	4: 95,837,628	I335N	possibly damaging	Het
Fkbp1b	C	T	12: 4,833,726	G90S	probably damaging	Het
Glra3	A	G	8: 55,940,977		probably benign	Het
Gpatch8	C	A	11: 102,478,549	A1388S	probably damaging	Het
Grin2b	T	A	6: 135,733,570	S993C	probably damaging	Het
Gsg1	A	T	6: 135,244,092	M103K	possibly damaging	Het
Il12rb2	A	T	6: 67,360,567	V110D	probably damaging	Het
Kat8	A	G	7: 127,920,504	D174G	probably damaging	Het
Krt82	A	T	15: 101,543,378	I334N	probably damaging	Het
Lrrfip1	C	T	1: 91,115,418	T515I	possibly damaging	Het
Lrrtm2	T	A	18: 35,214,239	L3F	probably benign	Het
Man1c1	T	A	4: 134,564,532	Q575L	probably damaging	Het
Panx1	A	G	9: 15,007,844	S240P	probably damaging	Het
Phldb2	G	A	16: 45,751,456	T1191I	probably damaging	Het
Plb1	G	A	5: 32,364,172	E1456K	unknown	Het
Prtn3	A	G	10: 79,881,052	T84A	probably benign	Het
R3hdm1	T	C	1: 128,235,632		probably benign	Het
Sirpa	G	A	2: 129,609,183	C121Y	probably damaging	Het
Slc9a3	C	A	13: 74,160,302	H475N	probably benign	Het
Spata16	A	T	3: 26,924,262	E459V	probably damaging	Het
Sult2a4	T	A	7: 13,909,789	E284D	probably benign	Het
Tbc1d32	A	G	10: 56,089,846		probably benign	Het
Thsd7a	A	C	6: 12,554,934	V317G	probably damaging	Het
Trh	T	C	6: 92,242,789	E182G	probably benign	Het
Tsc1	A	G	2: 28,672,466	D368G	possibly damaging	Het
Ttc39d	T	G	17: 80,216,526	C205G	probably damaging	Het
Unc79	T	G	12: 103,141,890		probably benign	Het
Vps13d	A	T	4: 145,160,652	D724E	probably damaging	Het
Zc3h14	T	A	12: 98,747,524		probably null	Het
Zfp507	G	T	7: 35,776,038	H917N	probably damaging	Het

Other mutations in Smgc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00797:Smgc	APN	15	91854543	splice site	probably benign
IGL01651:Smgc	APN	15	91859788	intron	probably benign
IGL01669:Smgc	APN	15	91860684	missense	possibly damaging	0.89
IGL01743:Smgc	APN	15	91854593	missense	probably benign	0.19
IGL01898:Smgc	APN	15	91844524	splice site	probably null
IGL03152:Smgc	APN	15	91841422	missense	possibly damaging	0.66
IGL03172:Smgc	APN	15	91860444	missense	probably damaging	0.99
IGL03352:Smgc	APN	15	91860678	missense	probably damaging	0.96
IGL03385:Smgc	APN	15	91841978	missense	possibly damaging	0.66
K7371:Smgc	UTSW	15	91860255	splice site	probably benign
R0090:Smgc	UTSW	15	91859762	missense	possibly damaging	0.91
R0125:Smgc	UTSW	15	91854543	splice site	probably benign
R0386:Smgc	UTSW	15	91854638	missense	probably benign	0.07
R0684:Smgc	UTSW	15	91841467	unclassified	probably benign
R1187:Smgc	UTSW	15	91860600	missense	probably damaging	0.99
R1586:Smgc	UTSW	15	91838393	missense	possibly damaging	0.90
R1848:Smgc	UTSW	15	91859758	missense	possibly damaging	0.58
R1964:Smgc	UTSW	15	91860270	missense	probably damaging	1.00
R2144:Smgc	UTSW	15	91844421	missense	possibly damaging	0.81
R3499:Smgc	UTSW	15	91842003	missense	possibly damaging	0.66
R3842:Smgc	UTSW	15	91860262	splice site	probably benign
R3978:Smgc	UTSW	15	91860348	missense	probably damaging	0.99
R4173:Smgc	UTSW	15	91860561	missense	possibly damaging	0.95
R4692:Smgc	UTSW	15	91854561	missense	possibly damaging	0.46
R4761:Smgc	UTSW	15	91845514	missense	possibly damaging	0.66
R4794:Smgc	UTSW	15	91841454	missense	probably benign	0.27
R4801:Smgc	UTSW	15	91854616	missense	probably benign	0.01
R4802:Smgc	UTSW	15	91854616	missense	probably benign	0.01
R5621:Smgc	UTSW	15	91844420	missense	probably damaging	0.99
R5672:Smgc	UTSW	15	91841905	missense	possibly damaging	0.46
R5707:Smgc	UTSW	15	91860663	missense	possibly damaging	0.66
R5722:Smgc	UTSW	15	91841906	missense	possibly damaging	0.83
R6212:Smgc	UTSW	15	91850627	intron	probably benign
R6767:Smgc	UTSW	15	91841398	missense	possibly damaging	0.46
R7049:Smgc	UTSW	15	91860378	missense	possibly damaging	0.82
R7155:Smgc	UTSW	15	91852608	missense	possibly damaging	0.66
R7210:Smgc	UTSW	15	91860294	missense	probably damaging	0.99
R7448:Smgc	UTSW	15	91845493	missense	probably benign	0.02
R7474:Smgc	UTSW	15	91860694	missense	possibly damaging	0.92
R7890:Smgc	UTSW	15	91847076	missense	possibly damaging	0.46
R8115:Smgc	UTSW	15	91849119	critical splice donor site	probably null
R8948:Smgc	UTSW	15	91838362	unclassified	probably benign
R9445:Smgc	UTSW	15	91845462	missense	probably benign	0.02
Z1177:Smgc	UTSW	15	91856621	missense	unknown
Z1177:Smgc	UTSW	15	91856626	missense	unknown

Posted On

2012-12-06