Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01669:Smgc'

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103428

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: 0.071) question?

Stock #

IGL01669

Quality Score

Status

Chromosome

Chromosomal Location

91838265-91861438 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91860684 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 381 (S381T)

Ref Sequence

ENSEMBL: ENSMUSP00000118530 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000088555
AA Change: S729T

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000085915
Gene: ENSMUSG00000047295
AA Change: S729T

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

possibly damaging
Transcript: ENSMUST00000100293
AA Change: S696T

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097866
Gene: ENSMUSG00000047295
AA Change: S696T

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
AA Change: S153T

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104899
Gene: ENSMUSG00000047295
AA Change: S153T

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
AA Change: S124T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000104900
Gene: ENSMUSG00000047295
AA Change: S124T

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

possibly damaging
Transcript: ENSMUST00000130014
AA Change: S381T

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118530
Gene: ENSMUSG00000047295
AA Change: S381T

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

unknown
Transcript: ENSMUST00000132674
AA Change: S345T

SMART Domains

Protein: ENSMUSP00000120578
Gene: ENSMUSG00000047295
AA Change: S345T

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

unknown
Transcript: ENSMUST00000136172
AA Change: S315T

SMART Domains

Protein: ENSMUSP00000119575
Gene: ENSMUSG00000047295
AA Change: S315T

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl4	G	T	X: 142,343,188	D313E	probably damaging	Het
Aifm3	A	C	16: 17,503,541	K453T	probably benign	Het
Anks1b	T	C	10: 90,897,238		probably benign	Het
Arfgef1	T	C	1: 10,159,615	D1287G	probably damaging	Het
Bcl3	G	A	7: 19,812,491	Q140*	probably null	Het
Bnipl	T	G	3: 95,242,734	R316S	probably damaging	Het
Cacna1i	T	A	15: 80,391,757	H1916Q	probably benign	Het
Ccdc171	C	T	4: 83,681,195	A749V	probably damaging	Het
Ceacam18	G	A	7: 43,645,515	G333E	probably damaging	Het
Cul7	G	T	17: 46,658,715	M969I	possibly damaging	Het
Cylc2	A	G	4: 51,228,360	T144A	probably benign	Het
Cyp2c50	A	T	19: 40,098,051	H294L	probably damaging	Het
D430041D05Rik	T	C	2: 104,254,961	K1081R	probably damaging	Het
D930020B18Rik	A	G	10: 121,683,961	K456R	probably benign	Het
Drd2	A	G	9: 49,402,089	N186S	possibly damaging	Het
Fanci	A	T	7: 79,449,177	E1306D	probably benign	Het
Fbxl21	T	A	13: 56,527,709		probably benign	Het
Galk2	T	A	2: 125,887,887	Y63N	probably damaging	Het
Git2	T	C	5: 114,767,105	D97G	probably damaging	Het
Gm8258	T	A	5: 104,776,074		noncoding transcript	Het
Irf4	G	T	13: 30,757,471	S270I	probably damaging	Het
Itgb3	C	A	11: 104,633,390		probably benign	Het
Itpr2	A	C	6: 146,180,229	I2299R	probably damaging	Het
Lig4	T	C	8: 9,973,673	I36V	probably benign	Het
Nedd9	A	G	13: 41,338,635	V133A	probably damaging	Het
Nup133	A	C	8: 123,939,130	Y185*	probably null	Het
Olfr1162	T	C	2: 88,049,784	Y280C	possibly damaging	Het
Olfr623	A	T	7: 103,660,987	F88I	probably benign	Het
Olfr788	A	G	10: 129,473,211	H173R	probably damaging	Het
Pgbd5	T	A	8: 124,374,399	T373S	possibly damaging	Het
Ppp1r8	T	C	4: 132,828,169	E246G	probably benign	Het
Rmnd5b	C	T	11: 51,627,900	V89M	probably damaging	Het
Rnf123	T	C	9: 108,058,356	I969V	probably damaging	Het
Ror2	A	G	13: 53,111,088	I656T	probably damaging	Het
Sgsm1	T	C	5: 113,263,490	E503G	probably benign	Het
Tlr4	T	G	4: 66,841,267	F766V	possibly damaging	Het
Tnc	T	C	4: 64,000,701	T1162A	probably damaging	Het
Usp39	A	G	6: 72,338,493	V156A	probably damaging	Het
Zdhhc5	A	G	2: 84,691,194	Y352H	probably damaging	Het
Zfp646	A	G	7: 127,878,965	T105A	probably benign	Het

Other mutations in Smgc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00797:Smgc	APN	15	91854543	splice site	probably benign
IGL00835:Smgc	APN	15	91844420	missense	probably damaging	0.99
IGL01651:Smgc	APN	15	91859788	intron	probably benign
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
Z1177:Smgc	UTSW	15	91856621	missense	unknown
Z1177:Smgc	UTSW	15	91856626	missense	unknown

Posted On

2014-01-21