Incidental Mutation 'R5722:Smgc'
ID 452289
Institutional Source Beutler Lab
Gene Symbol Smgc
Ensembl Gene ENSMUSG00000047295
Gene Name submandibular gland protein C
Synonyms Sfc21, DXImx49e, 2310010P21Rik
MMRRC Submission 043340-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R5722 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 91722531-91745633 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91726109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 18 (S18R)
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: S64R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000085915
Gene: ENSMUSG00000047295
AA Change: S64R

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 possibly damaging
Transcript: ENSMUST00000100293
AA Change: S64R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000097866
Gene: ENSMUSG00000047295
AA Change: S64R

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 possibly damaging
Transcript: ENSMUST00000126508
AA Change: S20R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120826
Gene: ENSMUSG00000047295
AA Change: S20R

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000130014
AA Change: S18R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118530
Gene: ENSMUSG00000047295
AA Change: S18R

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl6a G A 3: 32,772,194 (GRCm39) R164H probably damaging Het
Afg3l2 A G 18: 67,573,269 (GRCm39) Y178H probably benign Het
Agtr1a A G 13: 30,566,016 (GRCm39) *360W probably null Het
Arfgef1 A G 1: 10,209,109 (GRCm39) V1830A probably benign Het
Asic2 A T 11: 81,858,806 (GRCm39) S69T probably benign Het
Axin1 A T 17: 26,401,531 (GRCm39) N368Y probably damaging Het
Brme1 A G 8: 84,898,473 (GRCm39) E537G probably damaging Het
Ces1d G A 8: 93,904,756 (GRCm39) P328L probably benign Het
Cndp2 T A 18: 84,686,203 (GRCm39) K461* probably null Het
Cntnap5c A T 17: 58,620,852 (GRCm39) H977L probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Glg1 T C 8: 111,896,194 (GRCm39) T177A possibly damaging Het
Gm7168 T C 17: 14,169,824 (GRCm39) V397A probably benign Het
Hif1a T A 12: 73,988,533 (GRCm39) D535E probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Ice1 T C 13: 70,763,219 (GRCm39) E173G possibly damaging Het
Ighmbp2 A G 19: 3,329,909 (GRCm39) V115A probably damaging Het
Irf2 A T 8: 47,271,831 (GRCm39) E101D possibly damaging Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Kyat1 C T 2: 30,078,123 (GRCm39) C127Y probably damaging Het
Mrgpra4 T C 7: 47,630,755 (GRCm39) H282R probably benign Het
Npsr1 C A 9: 24,225,096 (GRCm39) P368Q probably damaging Het
Nwd1 G A 8: 73,401,872 (GRCm39) V839M probably damaging Het
Or51a43 T A 7: 103,717,930 (GRCm39) M103L probably damaging Het
Or6n2 G T 1: 173,897,436 (GRCm39) D191Y probably damaging Het
P4ha3 A G 7: 99,955,198 (GRCm39) D351G probably benign Het
Pard3b T A 1: 62,479,160 (GRCm39) probably null Het
Pgap6 CGGGG CGGGGG 17: 26,339,536 (GRCm39) probably null Het
Pik3c2b G T 1: 133,031,574 (GRCm39) G1505W probably damaging Het
Plppr5 A T 3: 117,414,714 (GRCm39) I112L probably benign Het
Potefam1 T A 2: 111,034,468 (GRCm39) T355S probably benign Het
Ptprq A G 10: 107,522,226 (GRCm39) I575T possibly damaging Het
Ranbp3l A G 15: 9,029,656 (GRCm39) E46G probably damaging Het
Rbm46 A G 3: 82,772,640 (GRCm39) V164A possibly damaging Het
Sap25 A G 5: 137,639,713 (GRCm39) E13G probably benign Het
Setbp1 A T 18: 78,899,860 (GRCm39) V1269E possibly damaging Het
Snrk T C 9: 121,993,072 (GRCm39) I345T probably benign Het
Sp4 T A 12: 118,262,976 (GRCm39) I357F possibly damaging Het
Sra1 A G 18: 36,808,031 (GRCm39) L399P probably damaging Het
Stat6 A G 10: 127,494,242 (GRCm39) T658A probably benign Het
Sv2a G A 3: 96,092,339 (GRCm39) R13H probably benign Het
Thoc3 G T 13: 54,608,014 (GRCm39) T310N probably damaging Het
Tox3 A C 8: 91,074,489 (GRCm39) probably null Het
Trpc6 A G 9: 8,680,550 (GRCm39) E848G possibly damaging Het
Ttn T A 2: 76,538,590 (GRCm39) T34703S possibly damaging Het
Ttn T C 2: 76,776,312 (GRCm39) I1577V probably damaging Het
Ubqln3 G A 7: 103,790,674 (GRCm39) P472L probably benign Het
Ugt2b36 C T 5: 87,240,297 (GRCm39) W29* probably null Het
Wdr17 C T 8: 55,113,806 (GRCm39) probably null Het
Zfp790 C A 7: 29,529,514 (GRCm39) S733* probably null 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
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
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'- GAAGAAAGGTTCTGATGTTGGC -3'
(R):5'- AGTCCCGGTAGAATACCTCCTAC -3'

Sequencing Primer
(F):5'- GGCTTTGGAATTTATAGCTTGAATTC -3'
(R):5'- GTAGAATACCTCCTACTCTGGGCAG -3'
Posted On 2017-01-03