Mutagenetix > Incidental Mutation

Incidental Mutation 'R0125:Smgc'

60476

Institutional Source

Beutler Lab

Gene Symbol

Smgc

Ensembl Gene

ENSMUSG00000047295

Gene Name

submandibular gland protein C

Synonyms

Sfc21, DXImx49e, 2310010P21Rik

MMRRC Submission

038410-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R0125 (G1)

Quality Score

140

Status

Validated

Chromosome

Chromosomal Location

91722531-91745633 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 91738746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q6JHY2

Predicted Effect

probably benign
Transcript: ENSMUST00000088555

SMART Domains

Protein: ENSMUSP00000085915
Gene: ENSMUSG00000047295

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 benign
Transcript: ENSMUST00000100293

SMART Domains

Protein: ENSMUSP00000097866
Gene: ENSMUSG00000047295

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 benign
Transcript: ENSMUST00000130014

SMART Domains

Protein: ENSMUSP00000118530
Gene: ENSMUSG00000047295

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: 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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143271

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.7%
20x: 87.1%

Validation Efficiency

98% (96/98)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	T	C	14: 70,394,096 (GRCm39)		probably benign	Het
Adam23	T	C	1: 63,573,515 (GRCm39)	L261P	probably benign	Het
Adgra3	G	A	5: 50,159,194 (GRCm39)		probably benign	Het
Agtr1b	A	G	3: 20,369,704 (GRCm39)	F301L	probably benign	Het
Ahnak2	G	A	12: 112,748,776 (GRCm39)	T357I	probably benign	Het
Aldh1a7	T	C	19: 20,704,430 (GRCm39)		probably benign	Het
Apoh	A	T	11: 108,302,899 (GRCm39)	N288I	probably damaging	Het
Arfgap3	A	G	15: 83,227,340 (GRCm39)	V24A	probably benign	Het
Atp6v0a1	A	G	11: 100,929,677 (GRCm39)		probably null	Het
Axl	A	T	7: 25,486,368 (GRCm39)	M112K	probably benign	Het
Bnc2	A	C	4: 84,211,169 (GRCm39)	I425S	probably damaging	Het
Ccn4	T	C	15: 66,789,194 (GRCm39)	S227P	possibly damaging	Het
Cdc42bpa	C	T	1: 179,788,763 (GRCm39)	T30M	probably damaging	Het
Cebpz	C	A	17: 79,227,317 (GRCm39)	R1051M	possibly damaging	Het
Ces1d	A	C	8: 93,901,810 (GRCm39)		probably benign	Het
Chd1l	T	C	3: 97,494,465 (GRCm39)	N405S	probably benign	Het
Chodl	G	T	16: 78,738,311 (GRCm39)	G93V	probably damaging	Het
Cpeb2	C	T	5: 43,395,743 (GRCm39)		probably benign	Het
Crebbp	A	G	16: 3,935,105 (GRCm39)		probably benign	Het
Crybb3	T	C	5: 113,227,675 (GRCm39)	T49A	possibly damaging	Het
Ctps1	A	G	4: 120,418,722 (GRCm39)		probably benign	Het
Cyp26b1	A	G	6: 84,551,497 (GRCm39)	Y240H	probably damaging	Het
Cyp2d11	A	C	15: 82,273,422 (GRCm39)	V483G	probably benign	Het
Dennd2b	T	C	7: 109,155,545 (GRCm39)	K402E	probably benign	Het
Dnah14	A	T	1: 181,579,628 (GRCm39)	N3054Y	probably damaging	Het
Dspp	A	C	5: 104,325,905 (GRCm39)	D756A	unknown	Het
Dst	T	C	1: 34,309,984 (GRCm39)	S1553P	probably damaging	Het
Elp4	A	G	2: 105,622,559 (GRCm39)		probably null	Het
Eml6	G	T	11: 29,832,088 (GRCm39)	T194K	probably benign	Het
Evi5	A	G	5: 107,943,638 (GRCm39)	I569T	probably benign	Het
Fancm	C	T	12: 65,168,730 (GRCm39)	P1698S	possibly damaging	Het
Fhdc1	T	C	3: 84,352,852 (GRCm39)	D791G	probably benign	Het
Frem1	A	G	4: 82,930,188 (GRCm39)	Y253H	probably damaging	Het
Gpn3	A	G	5: 122,519,481 (GRCm39)	Y196C	probably benign	Het
Hcls1	A	G	16: 36,782,525 (GRCm39)	D398G	probably benign	Het
Hydin	T	C	8: 111,189,163 (GRCm39)	V1189A	probably benign	Het
Itgb3	G	A	11: 104,534,789 (GRCm39)	D549N	probably damaging	Het
Itpr2	A	G	6: 146,141,951 (GRCm39)	F1697S	probably benign	Het
Klk1b11	A	G	7: 43,648,475 (GRCm39)	T161A	probably benign	Het
Kntc1	G	A	5: 123,903,120 (GRCm39)		probably benign	Het
Map3k19	A	T	1: 127,750,837 (GRCm39)	F838Y	probably benign	Het
Map6	T	A	7: 98,985,187 (GRCm39)		probably null	Het
Mcrs1	A	G	15: 99,142,608 (GRCm39)		probably benign	Het
Mdn1	A	T	4: 32,729,956 (GRCm39)	Y2766F	probably damaging	Het
Med23	C	T	10: 24,776,686 (GRCm39)	H739Y	probably damaging	Het
Mmp17	T	A	5: 129,671,646 (GRCm39)	D65E	possibly damaging	Het
Mmp9	T	A	2: 164,793,177 (GRCm39)	L442Q	probably damaging	Het
Myo19	T	C	11: 84,779,001 (GRCm39)		probably benign	Het
Nedd1	A	C	10: 92,527,791 (GRCm39)	S468A	possibly damaging	Het
Niban2	T	A	2: 32,813,833 (GRCm39)	V682D	probably benign	Het
Nlrp4d	A	C	7: 10,116,316 (GRCm39)	V152G	probably damaging	Het
Nxf1	T	A	19: 8,740,170 (GRCm39)	D112E	probably benign	Het
Oas1h	A	T	5: 121,000,626 (GRCm39)	K79*	probably null	Het
Omg	T	A	11: 79,393,679 (GRCm39)	I60F	possibly damaging	Het
Or5p69	A	G	7: 107,967,576 (GRCm39)	Y293C	probably damaging	Het
Or8b101	A	G	9: 38,020,815 (GRCm39)	T278A	probably benign	Het
Or8b1b	T	A	9: 38,375,757 (GRCm39)	L140*	probably null	Het
Pck1	G	A	2: 172,997,874 (GRCm39)	W314*	probably null	Het
Pla2g15	T	C	8: 106,889,756 (GRCm39)	Y343H	probably benign	Het
Plcb3	T	C	19: 6,936,276 (GRCm39)	E749G	probably damaging	Het
Plgrkt	A	G	19: 29,328,442 (GRCm39)		probably null	Het
Pprc1	A	G	19: 46,057,951 (GRCm39)		probably benign	Het
Prkdc	A	T	16: 15,516,871 (GRCm39)	I1082F	probably damaging	Het
Rapgef6	T	A	11: 54,516,701 (GRCm39)	Y172*	probably null	Het
Ros1	G	T	10: 52,001,885 (GRCm39)	A1079D	probably benign	Het
Sap30	T	C	8: 57,938,545 (GRCm39)	E147G	probably null	Het
Sell	T	C	1: 163,899,674 (GRCm39)		probably benign	Het
Senp1	A	T	15: 97,946,112 (GRCm39)	D544E	probably damaging	Het
Shpk	G	A	11: 73,105,048 (GRCm39)		probably benign	Het
Slc35b1	A	T	11: 95,277,353 (GRCm39)	T74S	probably benign	Het
Slc6a3	T	A	13: 73,718,098 (GRCm39)		probably benign	Het
Slf1	T	C	13: 77,191,864 (GRCm39)	N990S	probably benign	Het
Snx19	T	A	9: 30,351,515 (GRCm39)	V861D	probably damaging	Het
Sprr2e	C	T	3: 92,260,285 (GRCm39)	P39S	unknown	Het
Sstr2	T	A	11: 113,515,303 (GRCm39)	M74K	probably damaging	Het
Svep1	T	C	4: 58,099,937 (GRCm39)		probably benign	Het
Tas2r143	A	G	6: 42,377,889 (GRCm39)	I240V	probably benign	Het
Tbrg1	T	C	9: 37,563,937 (GRCm39)	I233V	probably benign	Het
Tecpr1	G	T	5: 144,134,717 (GRCm39)	D1055E	probably damaging	Het
Thap2	A	T	10: 115,212,277 (GRCm39)		probably null	Het
Tinagl1	A	G	4: 130,060,101 (GRCm39)	Y388H	probably damaging	Het
Ttn	T	A	2: 76,585,896 (GRCm39)	Y21945F	probably damaging	Het
Ugt2b1	A	T	5: 87,073,961 (GRCm39)	W133R	probably benign	Het
Usp24	C	T	4: 106,254,496 (GRCm39)	P1491L	possibly damaging	Het
Utp15	A	G	13: 98,387,390 (GRCm39)	S395P	possibly damaging	Het
Vav1	T	A	17: 57,606,847 (GRCm39)	L254Q	probably damaging	Het
Vmn2r104	T	C	17: 20,250,069 (GRCm39)	Y734C	probably damaging	Het
Vps8	T	A	16: 21,288,904 (GRCm39)	V421E	probably benign	Het
Xkr7	G	T	2: 152,874,346 (GRCm39)	A138S	probably benign	Het

Other mutations in Smgc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00797:Smgc	APN	15	91,738,746 (GRCm39)	splice site	probably benign
IGL00835:Smgc	APN	15	91,728,623 (GRCm39)	missense	probably damaging	0.99
IGL01651:Smgc	APN	15	91,743,986 (GRCm39)	intron	probably benign
IGL01669:Smgc	APN	15	91,744,882 (GRCm39)	missense	possibly damaging	0.89
IGL01743:Smgc	APN	15	91,738,796 (GRCm39)	missense	probably benign	0.19
IGL01898:Smgc	APN	15	91,728,727 (GRCm39)	splice site	probably null
IGL03152:Smgc	APN	15	91,725,625 (GRCm39)	missense	possibly damaging	0.66
IGL03172:Smgc	APN	15	91,744,642 (GRCm39)	missense	probably damaging	0.99
IGL03352:Smgc	APN	15	91,744,876 (GRCm39)	missense	probably damaging	0.96
IGL03385:Smgc	APN	15	91,726,181 (GRCm39)	missense	possibly damaging	0.66
K7371:Smgc	UTSW	15	91,744,453 (GRCm39)	splice site	probably benign
R0090:Smgc	UTSW	15	91,743,960 (GRCm39)	missense	possibly damaging	0.91
R0386:Smgc	UTSW	15	91,738,841 (GRCm39)	missense	probably benign	0.07
R0684:Smgc	UTSW	15	91,725,670 (GRCm39)	unclassified	probably benign
R1187:Smgc	UTSW	15	91,744,798 (GRCm39)	missense	probably damaging	0.99
R1586:Smgc	UTSW	15	91,722,596 (GRCm39)	missense	possibly damaging	0.90
R1848:Smgc	UTSW	15	91,743,956 (GRCm39)	missense	possibly damaging	0.58
R1964:Smgc	UTSW	15	91,744,468 (GRCm39)	missense	probably damaging	1.00
R2144:Smgc	UTSW	15	91,728,624 (GRCm39)	missense	possibly damaging	0.81
R3499:Smgc	UTSW	15	91,726,206 (GRCm39)	missense	possibly damaging	0.66
R3842:Smgc	UTSW	15	91,744,460 (GRCm39)	splice site	probably benign
R3978:Smgc	UTSW	15	91,744,546 (GRCm39)	missense	probably damaging	0.99
R4173:Smgc	UTSW	15	91,744,759 (GRCm39)	missense	possibly damaging	0.95
R4692:Smgc	UTSW	15	91,738,764 (GRCm39)	missense	possibly damaging	0.46
R4761:Smgc	UTSW	15	91,729,717 (GRCm39)	missense	possibly damaging	0.66
R4794:Smgc	UTSW	15	91,725,657 (GRCm39)	missense	probably benign	0.27
R4801:Smgc	UTSW	15	91,738,819 (GRCm39)	missense	probably benign	0.01
R4802:Smgc	UTSW	15	91,738,819 (GRCm39)	missense	probably benign	0.01
R5621:Smgc	UTSW	15	91,728,623 (GRCm39)	missense	probably damaging	0.99
R5672:Smgc	UTSW	15	91,726,108 (GRCm39)	missense	possibly damaging	0.46
R5707:Smgc	UTSW	15	91,744,861 (GRCm39)	missense	possibly damaging	0.66
R5722:Smgc	UTSW	15	91,726,109 (GRCm39)	missense	possibly damaging	0.83
R6212:Smgc	UTSW	15	91,734,830 (GRCm39)	intron	probably benign
R6767:Smgc	UTSW	15	91,725,601 (GRCm39)	missense	possibly damaging	0.46
R7049:Smgc	UTSW	15	91,744,576 (GRCm39)	missense	possibly damaging	0.82
R7155:Smgc	UTSW	15	91,736,811 (GRCm39)	missense	possibly damaging	0.66
R7210:Smgc	UTSW	15	91,744,492 (GRCm39)	missense	probably damaging	0.99
R7448:Smgc	UTSW	15	91,729,696 (GRCm39)	missense	probably benign	0.02
R7474:Smgc	UTSW	15	91,744,892 (GRCm39)	missense	possibly damaging	0.92
R7890:Smgc	UTSW	15	91,731,279 (GRCm39)	missense	possibly damaging	0.46
R8115:Smgc	UTSW	15	91,733,322 (GRCm39)	critical splice donor site	probably null
R8948:Smgc	UTSW	15	91,722,565 (GRCm39)	unclassified	probably benign
R9445:Smgc	UTSW	15	91,729,665 (GRCm39)	missense	probably benign	0.02
Z1177:Smgc	UTSW	15	91,740,829 (GRCm39)	missense	unknown
Z1177:Smgc	UTSW	15	91,740,824 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGTGGCCTGCACTAAAATGTTCCTG -3'
(R):5'- GCTGCCGATAAAGCAAGGGTTTG -3'

Sequencing Primer
(F):5'- TGTGAATCTACATCCAGGGC -3'
(R):5'- GGAGGGTCAGATTTCACTGTCAC -3'

Posted On

2013-07-24