Mutagenetix > Incidental Mutation

Incidental Mutation 'R2144:Smgc'

236676

Institutional Source

Beutler Lab

Gene Symbol

Smgc

Ensembl Gene

ENSMUSG00000047295

Gene Name

submandibular gland protein C

Synonyms

Sfc21, DXImx49e, 2310010P21Rik

MMRRC Submission

040147-MU

Accession Numbers

Essential gene?

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

Stock #

R2144 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

91722531-91745633 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 91728624 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 121 (D121E)

Ref Sequence

ENSEMBL: ENSMUSP00000118530 (fasta)

Gene Model

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

AlphaFold

Q6JHY2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000088555
AA Change: D167E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000085915
Gene: ENSMUSG00000047295
AA Change: D167E

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: D167E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000097866
Gene: ENSMUSG00000047295
AA Change: D167E

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

possibly damaging
Transcript: ENSMUST00000126508
AA Change: D123E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120826
Gene: ENSMUSG00000047295
AA Change: D123E

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130014
AA Change: D121E

PolyPhen 2 Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118530
Gene: ENSMUSG00000047295
AA Change: D121E

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

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

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	A	4: 88,786,412 (GRCm39)	T69S	unknown	Het
4930553M12Rik	G	A	4: 88,786,411 (GRCm39)	T69I	unknown	Het
Acsl6	A	T	11: 54,232,604 (GRCm39)	Q485L	probably damaging	Het
Adam5	C	A	8: 25,305,496 (GRCm39)	V81F	probably benign	Het
Aoc1l1	A	G	6: 48,952,225 (GRCm39)	H50R	probably benign	Het
Bag2	A	G	1: 33,785,912 (GRCm39)	S137P	possibly damaging	Het
Birc6	A	T	17: 74,967,408 (GRCm39)	Q4103L	possibly damaging	Het
Camta2	A	G	11: 70,562,401 (GRCm39)	F999L	probably benign	Het
Cap2	A	T	13: 46,713,978 (GRCm39)		probably null	Het
Ccnk	T	A	12: 108,155,349 (GRCm39)	L102Q	probably null	Het
Cd52	T	C	4: 133,821,048 (GRCm39)		probably benign	Het
Cdc123	A	T	2: 5,815,617 (GRCm39)	I160K	probably benign	Het
Cep85l	T	C	10: 53,234,222 (GRCm39)	N52S	probably benign	Het
Cntnap5a	C	T	1: 116,029,440 (GRCm39)	T298I	probably benign	Het
Cpsf4	G	T	5: 145,115,572 (GRCm39)	S192I	probably benign	Het
Cpxm1	A	G	2: 130,239,330 (GRCm39)	S33P	probably benign	Het
Cyp2a12	A	T	7: 26,734,194 (GRCm39)	T376S	possibly damaging	Het
Cyp3a16	A	G	5: 145,392,894 (GRCm39)	F137S	probably damaging	Het
Des	A	G	1: 75,343,448 (GRCm39)	T444A	probably benign	Het
Dgcr8	C	T	16: 18,102,120 (GRCm39)	G54D	probably damaging	Het
Dmac2l	A	G	12: 69,787,828 (GRCm39)	Q88R	probably damaging	Het
Dsc3	A	G	18: 20,113,743 (GRCm39)	F393S	possibly damaging	Het
Dstyk	T	A	1: 132,391,113 (GRCm39)	M838K	probably damaging	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Eml5	A	C	12: 98,776,864 (GRCm39)	F1417C	probably damaging	Het
Ep400	A	T	5: 110,851,384 (GRCm39)	M1366K	unknown	Het
Epg5	G	T	18: 77,997,412 (GRCm39)	C425F	possibly damaging	Het
Epha3	C	G	16: 63,593,680 (GRCm39)	R136P	possibly damaging	Het
Extl1	C	A	4: 134,098,355 (GRCm39)	E225D	probably benign	Het
Fam186b	A	G	15: 99,178,538 (GRCm39)	Y263H	probably benign	Het
Fbn2	A	G	18: 58,186,065 (GRCm39)	V1761A	possibly damaging	Het
Fer1l6	T	A	15: 58,499,383 (GRCm39)	M1251K	probably benign	Het
Gart	A	T	16: 91,426,969 (GRCm39)	I555N	probably damaging	Het
Gm11596	A	T	11: 99,683,789 (GRCm39)	C110*	probably null	Het
Gnptab	C	T	10: 88,264,368 (GRCm39)	S262L	possibly damaging	Het
Gpr21	T	C	2: 37,408,243 (GRCm39)	V263A	probably benign	Het
Gxylt1	T	C	15: 93,152,361 (GRCm39)	I224V	probably benign	Het
H2-Aa	A	G	17: 34,502,801 (GRCm39)	S122P	probably damaging	Het
Hsph1	A	C	5: 149,553,802 (GRCm39)		probably null	Het
Hunk	G	A	16: 90,229,420 (GRCm39)	D94N	probably damaging	Het
Ikbke	C	A	1: 131,201,211 (GRCm39)	V176L	probably damaging	Het
Inpp5k	A	T	11: 75,538,017 (GRCm39)		probably null	Het
Ints10	A	G	8: 69,249,457 (GRCm39)	T96A	probably damaging	Het
Kansl2	A	T	15: 98,424,512 (GRCm39)	V306E	probably benign	Het
Kif20a	A	G	18: 34,758,657 (GRCm39)	D42G	possibly damaging	Het
Klhl7	A	T	5: 24,305,861 (GRCm39)	M37L	probably benign	Het
Krtap1-5	T	C	11: 99,471,644 (GRCm39)	I50V	probably benign	Het
Ktn1	A	G	14: 47,952,109 (GRCm39)	E983G	probably damaging	Het
Lrrk1	G	A	7: 65,945,911 (GRCm39)	S566L	probably damaging	Het
M6pr	A	G	6: 122,292,326 (GRCm39)	M174V	probably benign	Het
Man2a2	A	G	7: 80,013,264 (GRCm39)	S510P	probably damaging	Het
Mmrn1	G	A	6: 60,922,059 (GRCm39)	S172N	possibly damaging	Het
Mpv17	A	G	5: 31,311,533 (GRCm39)		probably null	Het
Mrgpra9	T	C	7: 46,885,211 (GRCm39)	E152G	probably benign	Het
Mst1r	T	C	9: 107,790,367 (GRCm39)	V660A	probably benign	Het
Myof	A	G	19: 37,969,669 (GRCm39)		probably null	Het
Myrf	G	A	19: 10,206,038 (GRCm39)	P126L	probably benign	Het
Nckap1l	C	T	15: 103,384,103 (GRCm39)	A567V	probably damaging	Het
Nphs1	A	G	7: 30,160,395 (GRCm39)	E169G	probably benign	Het
Npy1r	T	A	8: 67,157,836 (GRCm39)	V382D	probably benign	Het
Nrl	A	T	14: 55,758,307 (GRCm39)	M140K	possibly damaging	Het
Odad2	C	T	18: 7,127,229 (GRCm39)	E995K	probably damaging	Het
Or14c39	T	A	7: 86,344,488 (GRCm39)	F275I	probably damaging	Het
Or2ag1b	A	T	7: 106,288,164 (GRCm39)	M258K	probably damaging	Het
Or4f56	A	G	2: 111,703,768 (GRCm39)	I144T	probably damaging	Het
Or5ac17	C	T	16: 59,036,389 (GRCm39)	V196M	probably benign	Het
Or8d2	C	T	9: 38,759,635 (GRCm39)	T75I	probably damaging	Het
Orc5	T	A	5: 22,752,925 (GRCm39)	L36F	possibly damaging	Het
Osbpl1a	A	T	18: 13,004,230 (GRCm39)	S396T	probably benign	Het
Pappa	T	A	4: 65,099,186 (GRCm39)	Y568*	probably null	Het
Pask	C	T	1: 93,249,019 (GRCm39)	A794T	probably benign	Het
Pclo	C	T	5: 14,908,766 (GRCm39)	L5025F	unknown	Het
Pde3a	T	C	6: 141,435,837 (GRCm39)	V924A	probably benign	Het
Pdpr	A	G	8: 111,844,668 (GRCm39)	N355S	probably damaging	Het
Pepd	A	T	7: 34,620,843 (GRCm39)	K36M	probably benign	Het
Pet100	T	G	8: 3,672,355 (GRCm39)	L14R	probably damaging	Het
Pfkfb2	T	C	1: 130,626,460 (GRCm39)	T438A	probably benign	Het
Pik3r6	T	A	11: 68,434,437 (GRCm39)	L546*	probably null	Het
Pira2	A	T	7: 3,847,344 (GRCm39)	L115Q	probably damaging	Het
Plxdc1	T	C	11: 97,824,838 (GRCm39)	Y339C	probably damaging	Het
Primpol	A	T	8: 47,039,378 (GRCm39)	M414K	probably damaging	Het
Prol1	A	T	5: 88,476,254 (GRCm39)	T215S	unknown	Het
Prss22	A	G	17: 24,213,656 (GRCm39)	Y212H	probably damaging	Het
Ralgapa2	C	A	2: 146,230,524 (GRCm39)	V1014L	probably damaging	Het
Rap1gap2	G	A	11: 74,316,802 (GRCm39)	T245M	probably damaging	Het
Rbm26	T	A	14: 105,352,638 (GRCm39)	R1009*	probably null	Het
Rbm42	A	G	7: 30,340,535 (GRCm39)	*450Q	probably null	Het
Rere	T	C	4: 150,701,388 (GRCm39)	V1256A	probably damaging	Het
Rmi1	G	T	13: 58,555,797 (GRCm39)	L15F	probably damaging	Het
Rnf213	T	C	11: 119,334,516 (GRCm39)	S3242P	probably damaging	Het
Rtel1	T	A	2: 180,965,499 (GRCm39)	V167E	probably damaging	Het
Scgb1b2	G	T	7: 30,991,188 (GRCm39)		probably benign	Het
Sin3b	T	C	8: 73,457,893 (GRCm39)	L203P	probably damaging	Het
Skint6	T	C	4: 113,093,457 (GRCm39)	S229G	possibly damaging	Het
Slco1a4	T	C	6: 141,755,104 (GRCm39)	Y566C	probably damaging	Het
Sned1	T	A	1: 93,199,406 (GRCm39)	F495L	probably damaging	Het
St7	A	T	6: 17,886,006 (GRCm39)	N52I	possibly damaging	Het
Sycn	C	A	7: 28,240,494 (GRCm39)	Q54K	probably benign	Het
Syngr4	A	G	7: 45,536,464 (GRCm39)	V186A	probably benign	Het
Tars3	G	A	7: 65,305,539 (GRCm39)	M254I	possibly damaging	Het
Tcaf2	A	T	6: 42,619,738 (GRCm39)	H96Q	probably benign	Het
Tcp11l2	T	C	10: 84,449,363 (GRCm39)	Y443H	probably damaging	Het
Tmem200c	A	T	17: 69,149,244 (GRCm39)	Q609L	possibly damaging	Het
Tmx3	G	A	18: 90,535,614 (GRCm39)	G83R	probably damaging	Het
Tpgs2	A	C	18: 25,301,598 (GRCm39)	V23G	possibly damaging	Het
Trhr	T	C	15: 44,060,579 (GRCm39)	V33A	probably benign	Het
Trim66	A	T	7: 109,074,320 (GRCm39)	I647N	probably damaging	Het
Trnt1	A	G	6: 106,755,000 (GRCm39)	K244E	probably damaging	Het
Tsfm	G	A	10: 126,864,314 (GRCm39)	Q134*	probably null	Het
Ttll9	A	G	2: 152,844,927 (GRCm39)	T432A	probably benign	Het
Vmn2r78	C	T	7: 86,603,690 (GRCm39)	L623F	probably damaging	Het
Wdr55	A	G	18: 36,895,419 (GRCm39)	N132S	possibly damaging	Het
Wipf2	A	T	11: 98,787,040 (GRCm39)	R356S	possibly damaging	Het
Wnk1	A	G	6: 119,925,949 (GRCm39)		probably benign	Het
Zfp260	A	G	7: 29,804,765 (GRCm39)	K222E	probably damaging	Het
Zfp300	A	G	X: 20,948,190 (GRCm39)	S525P	possibly damaging	Het
Zfp592	A	G	7: 80,687,950 (GRCm39)	T959A	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
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'- TTGAAGAACTAGACCAGACAATGC -3'
(R):5'- GCACATGTTTCCTCCATGGG -3'

Sequencing Primer
(F):5'- GACAATGCTAAGGGCTCTTGATACC -3'
(R):5'- CCTCCATGGGAATTTTAAAACACAG -3'

Posted On

2014-10-01