Mutagenetix > Incidental Mutation

Incidental Mutation 'R7448:Smgc'

577514

Institutional Source

Beutler Lab

Gene Symbol

Smgc

Ensembl Gene

ENSMUSG00000047295

Gene Name

submandibular gland protein C

Synonyms

Sfc21, DXImx49e, 2310010P21Rik

MMRRC Submission

045523-MU

Accession Numbers

Essential gene?

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

Stock #

R7448 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91722531-91745633 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91729696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 217 (K217E)

Ref Sequence

ENSEMBL: ENSMUSP00000085915 (fasta)

Gene Model

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

AlphaFold

Q6JHY2

Predicted Effect

probably benign
Transcript: ENSMUST00000088555
AA Change: K217E

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000085915
Gene: ENSMUSG00000047295
AA Change: K217E

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

unknown
Transcript: ENSMUST00000100293
AA Change: K217E

SMART Domains

Protein: ENSMUSP00000097866
Gene: ENSMUSG00000047295
AA Change: K217E

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

probably benign
Transcript: ENSMUST00000126508
AA Change: K173E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120826
Gene: ENSMUSG00000047295
AA Change: K173E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000130014
AA Change: K171E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118530
Gene: ENSMUSG00000047295
AA Change: K171E

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

SMART Domains

Protein: ENSMUSP00000119575
Gene: ENSMUSG00000047295
AA Change: K15E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (117/117)

Allele List at MGI

Other mutations in this stock

Total: 119 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	T	C	2: 155,360,186 (GRCm39)	S54P	probably damaging	Het
Ahnak2	T	C	12: 112,746,605 (GRCm39)	K1242E		Het
Alpi	T	A	1: 87,029,257 (GRCm39)	M1L	possibly damaging	Het
Atp2c1	C	T	9: 105,329,982 (GRCm39)	A283T	probably damaging	Het
Atp8b5	T	G	4: 43,366,021 (GRCm39)	M764R	probably benign	Het
B4galnt2	T	A	11: 95,760,193 (GRCm39)	H278L	probably damaging	Het
Bcl9l	G	T	9: 44,420,634 (GRCm39)	A1347S	probably benign	Het
Bicd2	A	G	13: 49,533,427 (GRCm39)	E671G	probably damaging	Het
Bmp3	A	T	5: 99,020,077 (GRCm39)	I167F	probably damaging	Het
Bpifb5	T	A	2: 154,072,105 (GRCm39)	C271S	possibly damaging	Het
Camsap2	T	A	1: 136,198,644 (GRCm39)	H793L		Het
Casp8ap2	T	A	4: 32,643,974 (GRCm39)	S1016T	possibly damaging	Het
Castor1	A	G	11: 4,171,897 (GRCm39)	S325G	not run	Het
Ccdc134	T	A	15: 82,025,149 (GRCm39)	I216N	possibly damaging	Het
Ccdc63	G	T	5: 122,246,245 (GRCm39)	R559S	probably benign	Het
Cd276	T	C	9: 58,442,895 (GRCm39)	T187A	probably benign	Het
Ciao1	C	T	2: 127,087,678 (GRCm39)	R219H	probably damaging	Het
Clmn	T	C	12: 104,751,687 (GRCm39)	D256G	possibly damaging	Het
Cobl	A	C	11: 12,206,225 (GRCm39)	M550R	possibly damaging	Het
Cracr2b	A	T	7: 141,044,118 (GRCm39)	T117S	probably benign	Het
Cx3cr1	G	A	9: 119,881,282 (GRCm39)	A40V	probably benign	Het
Cxcl14	A	G	13: 56,440,344 (GRCm39)	C72R	probably damaging	Het
Dab2	T	A	15: 6,451,747 (GRCm39)	I121N	probably damaging	Het
Dapk1	A	G	13: 60,898,990 (GRCm39)	Y820C	probably damaging	Het
Dele1	A	G	18: 38,390,319 (GRCm39)	N256D	probably damaging	Het
Ech1	T	A	7: 28,525,623 (GRCm39)	C91S	probably damaging	Het
Exosc5	T	G	7: 25,358,734 (GRCm39)	V25G	probably benign	Het
Fbp1	A	C	13: 63,020,564 (GRCm39)	D122E	possibly damaging	Het
Fbxw13	A	G	9: 109,014,471 (GRCm39)	Y101H	unknown	Het
Fcsk	C	T	8: 111,616,963 (GRCm39)	G396S	possibly damaging	Het
Fhip1a	G	A	3: 85,579,871 (GRCm39)	S778L	probably benign	Het
Fmnl1	T	A	11: 103,077,453 (GRCm39)	V271E	probably damaging	Het
Galnt1	T	A	18: 24,417,866 (GRCm39)	S545T	probably benign	Het
Galnt13	G	A	2: 54,406,576 (GRCm39)	V9M	possibly damaging	Het
Gm7995	A	T	14: 42,132,302 (GRCm39)	I45F		Het
Gpr137	C	T	19: 6,917,726 (GRCm39)	R134Q	possibly damaging	Het
Gpr22	T	G	12: 31,759,514 (GRCm39)	I203L	probably benign	Het
H2-Q10	T	C	17: 35,784,457 (GRCm39)	Y324H	not run	Het
Hcn4	G	A	9: 58,751,582 (GRCm39)	E403K	unknown	Het
Hddc2	T	A	10: 31,189,412 (GRCm39)	M1K	probably null	Het
Hps3	A	G	3: 20,089,329 (GRCm39)	F34S	probably damaging	Het
Ift56	T	A	6: 38,381,422 (GRCm39)	Y319*	probably null	Het
Igdcc4	G	T	9: 65,031,276 (GRCm39)	V405L	possibly damaging	Het
Itpr2	C	A	6: 146,231,006 (GRCm39)	V1215L	probably damaging	Het
Kif26b	T	C	1: 178,742,339 (GRCm39)	S812P	probably damaging	Het
Lgi1	T	A	19: 38,289,713 (GRCm39)	C260S	probably damaging	Het
Lhfpl6	A	G	3: 53,168,020 (GRCm39)	Y198C	probably damaging	Het
Lrp5	T	C	19: 3,699,439 (GRCm39)	D282G	probably benign	Het
Lrpprc	T	C	17: 85,079,567 (GRCm39)	T230A	probably damaging	Het
Lrtm2	A	G	6: 119,297,784 (GRCm39)	W86R	probably benign	Het
Maco1	A	T	4: 134,555,590 (GRCm39)	N294K	possibly damaging	Het
Magi2	G	A	5: 20,563,954 (GRCm39)	G199D	probably damaging	Het
Map1b	C	T	13: 99,644,648 (GRCm39)	R85Q	probably damaging	Het
Marchf7	T	A	2: 60,077,858 (GRCm39)		probably null	Het
Morc1	A	G	16: 48,251,708 (GRCm39)	D2G	probably damaging	Het
Mpp7	A	T	18: 7,351,079 (GRCm39)	F539L	probably damaging	Het
Muc13	A	T	16: 33,634,951 (GRCm39)	I502F	probably damaging	Het
Myh13	A	G	11: 67,255,286 (GRCm39)		probably null	Het
Nat10	C	G	2: 103,578,390 (GRCm39)	L238F	probably damaging	Het
Nckap1	G	A	2: 80,354,885 (GRCm39)	T679I	probably damaging	Het
Npy6r	T	A	18: 44,409,260 (GRCm39)	I227N	probably damaging	Het
Nudt18	A	T	14: 70,815,389 (GRCm39)	M1L	unknown	Het
Or13d1	T	A	4: 52,971,207 (GRCm39)	N195K	probably damaging	Het
Or14a257	G	A	7: 86,138,417 (GRCm39)	T114I	probably damaging	Het
Or4f14	T	A	2: 111,742,637 (GRCm39)	I213L	probably benign	Het
Or8d1	C	A	9: 38,766,412 (GRCm39)	T18K	probably damaging	Het
Or8u8	T	C	2: 86,011,678 (GRCm39)	Y259C	probably damaging	Het
Pcdha3	T	A	18: 37,079,266 (GRCm39)	F3I	probably benign	Het
Pcdhga3	T	A	18: 37,808,917 (GRCm39)	Y457N	possibly damaging	Het
Pclo	A	T	5: 14,719,631 (GRCm39)	Q1256L	unknown	Het
Piezo2	C	T	18: 63,157,543 (GRCm39)	R2389H	probably damaging	Het
Pml	G	T	9: 58,154,496 (GRCm39)	Q126K	probably benign	Het
Ppef2	A	G	5: 92,376,563 (GRCm39)	Y655H	probably damaging	Het
Ppp4r1	T	C	17: 66,147,936 (GRCm39)	V926A	probably damaging	Het
Psg29	A	G	7: 16,945,648 (GRCm39)	D406G	possibly damaging	Het
Ptprf	T	C	4: 118,092,864 (GRCm39)	D517G	probably benign	Het
Ptprg	G	A	14: 12,142,461 (GRCm38)	E371K	probably benign	Het
Pttg1ip2	T	C	5: 5,505,952 (GRCm39)	I110V	probably benign	Het
Rasgrp1	T	C	2: 117,118,424 (GRCm39)	I522V	probably damaging	Het
Rasgrp1	T	A	2: 117,122,178 (GRCm39)	D404V	possibly damaging	Het
Rb1cc1	T	A	1: 6,315,727 (GRCm39)	F541I	probably damaging	Het
Rgsl1	C	A	1: 153,719,847 (GRCm39)		probably null	Het
Rhobtb2	C	T	14: 70,033,397 (GRCm39)	W524*	probably null	Het
Rhox4d	G	A	X: 36,700,645 (GRCm39)	G191E	unknown	Het
Rims1	A	G	1: 22,474,699 (GRCm39)	S211P		Het
Ripor2	A	T	13: 24,854,054 (GRCm39)	Q54L	possibly damaging	Het
Rnf213	A	G	11: 119,372,117 (GRCm39)	I4903V		Het
Robo3	T	A	9: 37,336,111 (GRCm39)	I452F	possibly damaging	Het
Rpl27rt	A	G	18: 34,870,580 (GRCm39)	K38R	probably damaging	Het
Seh1l	C	T	18: 67,916,988 (GRCm39)	H56Y	probably damaging	Het
Sema3b	T	A	9: 107,480,162 (GRCm39)	D192V	probably damaging	Het
Sidt1	A	T	16: 44,106,763 (GRCm39)	C222*	probably null	Het
Skor1	A	G	9: 63,053,385 (GRCm39)	F195L	probably damaging	Het
Slc44a2	A	C	9: 21,259,642 (GRCm39)	K596N	possibly damaging	Het
Socs7	C	A	11: 97,267,917 (GRCm39)	H349Q	possibly damaging	Het
Speer4f2	A	G	5: 17,581,540 (GRCm39)	T161A		Het
Spg11	T	C	2: 121,924,026 (GRCm39)		probably null	Het
Ssb	A	G	2: 69,693,624 (GRCm39)	T11A	probably benign	Het
Sun1	A	G	5: 139,232,589 (GRCm39)	S837G	probably damaging	Het
Szt2	A	C	4: 118,220,668 (GRCm39)	S3385A	unknown	Het
Tapbp	T	C	17: 34,139,391 (GRCm39)	V129A	possibly damaging	Het
Thsd1	T	C	8: 22,733,349 (GRCm39)	I132T	possibly damaging	Het
Tm6sf2	T	A	8: 70,530,589 (GRCm39)	V223E	possibly damaging	Het
Tm9sf4	T	A	2: 153,036,267 (GRCm39)	M343K	probably benign	Het
Trank1	C	A	9: 111,195,417 (GRCm39)	P1147Q	probably benign	Het
Trip4	G	A	9: 65,773,757 (GRCm39)	T275M	probably damaging	Het
Tsen34	T	C	7: 3,698,834 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,680,422 (GRCm39)	E1086G	unknown	Het
Ubr4	A	T	4: 139,189,778 (GRCm39)	M853L	unknown	Het
Ubxn11	A	T	4: 133,852,466 (GRCm39)	R352W	probably damaging	Het
Vmn1r35	G	A	6: 66,656,219 (GRCm39)		probably benign	Het
Vmn2r107	C	T	17: 20,595,994 (GRCm39)	T849I	probably benign	Het
Vmn2r93	C	A	17: 18,546,248 (GRCm39)	L707I	probably benign	Het
Wwc1	G	A	11: 35,766,533 (GRCm39)	T574I	probably benign	Het
Zfp143	A	G	7: 109,669,705 (GRCm39)	M45V	probably benign	Het
Zfp518a	T	A	19: 40,902,601 (GRCm39)	N843K	possibly damaging	Het
Zfp87	A	T	13: 67,665,163 (GRCm39)	M433K	probably benign	Het
Zfp873	C	A	10: 81,896,461 (GRCm39)	H397Q	probably damaging	Het
Zscan21	A	T	5: 138,116,110 (GRCm39)		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
R0125:Smgc	UTSW	15	91,738,746 (GRCm39)	splice site	probably benign
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
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'- CCAAGTCAGTTTCTGTGAGAACATAG -3'
(R):5'- AGATCAATGTCAGCCCACCG -3'

Sequencing Primer
(F):5'- TGGCGATGACTATTGAGC -3'
(R):5'- GTTGGACCTAGGCTCATGACATATC -3'

Posted On

2019-10-07