Incidental Mutation 'R5621:Smgc'
ID 441581
Institutional Source Beutler Lab
Gene Symbol Smgc
Ensembl Gene ENSMUSG00000047295
Gene Name submandibular gland protein C
Synonyms Sfc21, DXImx49e, 2310010P21Rik
MMRRC Submission 043279-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R5621 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 91722531-91745633 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 91728623 bp (GRCm39)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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: ENSMUST00000136172
SMART Domains Protein: ENSMUSP00000119575
Gene: ENSMUSG00000047295

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000132674
SMART Domains Protein: ENSMUSP00000120578
Gene: ENSMUSG00000047295

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 98% (63/64)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 T G 17: 85,003,421 (GRCm39) L417R probably damaging Het
Adrm1b G A 3: 92,335,664 (GRCm39) A346V probably damaging Het
Als2 A G 1: 59,231,049 (GRCm39) V854A probably benign Het
Bbox1 C T 2: 110,122,868 (GRCm39) W140* probably null Het
Ccdc28a A T 10: 18,092,016 (GRCm39) N110K probably benign Het
Chrna6 C T 8: 27,897,068 (GRCm39) E270K probably damaging Het
Cilp A G 9: 65,186,073 (GRCm39) K723E possibly damaging Het
Ciz1 C A 2: 32,261,753 (GRCm39) A455E probably damaging Het
Csmd3 T G 15: 48,177,374 (GRCm39) H388P possibly damaging Het
Dnajc8 A G 4: 132,280,563 (GRCm39) probably benign Het
Dnase1 G T 16: 3,856,982 (GRCm39) C164F probably benign Het
Dync2h1 A T 9: 7,120,909 (GRCm39) I2126K possibly damaging Het
Epha4 G T 1: 77,491,686 (GRCm39) probably benign Het
Fer1l6 T C 15: 58,430,175 (GRCm39) C201R probably damaging Het
Fgf8 T C 19: 45,730,821 (GRCm39) Y68C probably benign Het
Gabrb1 A T 5: 72,266,071 (GRCm39) I243F probably damaging Het
Gpam A C 19: 55,067,692 (GRCm39) S484A probably damaging Het
Hectd2 T A 19: 36,596,151 (GRCm39) N745K probably damaging Het
Hspa13 T C 16: 75,563,651 (GRCm39) probably benign Het
Ints2 A G 11: 86,133,773 (GRCm39) F426L probably benign Het
Ism1 A G 2: 139,520,641 (GRCm39) T18A probably damaging Het
Itih2 T A 2: 10,107,616 (GRCm39) Q650L probably benign Het
Jmjd4 T C 11: 59,341,219 (GRCm39) F50S probably damaging Het
Kif5b T C 18: 6,226,883 (GRCm39) N125S probably benign Het
Lonp1 G C 17: 56,927,263 (GRCm39) A330G probably benign Het
Lrfn1 A G 7: 28,166,261 (GRCm39) I552V probably damaging Het
Mcph1 A G 8: 18,682,186 (GRCm39) E441G probably damaging Het
Mdn1 T A 4: 32,716,371 (GRCm39) H2144Q possibly damaging Het
Mms19 A G 19: 41,954,752 (GRCm39) S56P probably benign Het
Mrgprb3 A G 7: 48,293,116 (GRCm39) I145T probably benign Het
Myh11 G A 16: 14,062,719 (GRCm39) T287I probably damaging Het
Npas2 A G 1: 39,398,794 (GRCm39) T730A probably benign Het
Or4c108 T C 2: 88,803,810 (GRCm39) I142V probably benign Het
Or4c15b G A 2: 89,112,697 (GRCm39) P281L probably damaging Het
Pcdhgb1 A G 18: 37,815,222 (GRCm39) E571G possibly damaging Het
Pcx T A 19: 4,669,195 (GRCm39) V731E possibly damaging Het
Pgm2 T A 5: 64,269,381 (GRCm39) Y489* probably null Het
Rrp12 T C 19: 41,868,856 (GRCm39) T541A probably benign Het
Ryr3 C T 2: 112,731,329 (GRCm39) W660* probably null Het
Sertad2 T A 11: 20,598,061 (GRCm39) F86I possibly damaging Het
Slc11a1 G A 1: 74,420,065 (GRCm39) G191D probably damaging Het
Slc22a22 G T 15: 57,122,547 (GRCm39) F143L probably benign Het
Slc22a28 C T 19: 8,048,376 (GRCm39) V424I probably benign Het
Slc7a11 T G 3: 50,393,324 (GRCm39) K106N probably damaging Het
Sphk1 C T 11: 116,427,192 (GRCm39) probably benign Het
Spock3 A T 8: 63,597,040 (GRCm39) T118S probably benign Het
Stk17b G T 1: 53,810,943 (GRCm39) S54* probably null Het
Sycp2 A G 2: 178,023,711 (GRCm39) I435T probably benign Het
Tm2d3 G T 7: 65,351,366 (GRCm39) D207Y probably damaging Het
Top2b A T 14: 16,387,280 (GRCm38) N123Y probably damaging Het
Unc80 A G 1: 66,677,202 (GRCm39) T2044A possibly damaging Het
Usp6nl A G 2: 6,445,243 (GRCm39) S407G probably benign Het
Vmn1r195 G A 13: 22,462,559 (GRCm39) V10I probably benign Het
Zfp292 C T 4: 34,811,703 (GRCm39) R447H probably damaging Het
Other mutations in Smgc
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 2016-11-08