Incidental Mutation 'IGL03172:Smgc'
ID411886
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smgc
Ensembl Gene ENSMUSG00000047295
Gene Namesubmandibular gland protein C
SynonymsSfc21, DXImx49e, 2310010P21Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL03172
Quality Score
Status
Chromosome15
Chromosomal Location91838265-91861438 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 91860444 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 333 (D333V)
Ref Sequence ENSEMBL: ENSMUSP00000118530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088555] [ENSMUST00000100293] [ENSMUST00000109276] [ENSMUST00000109277] [ENSMUST00000130014]
Predicted Effect probably damaging
Transcript: ENSMUST00000088555
AA Change: D681V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000085915
Gene: ENSMUSG00000047295
AA Change: D681V

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: D648V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097866
Gene: ENSMUSG00000047295
AA Change: D648V

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 damaging
Transcript: ENSMUST00000109276
AA Change: D105V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104899
Gene: ENSMUSG00000047295
AA Change: D105V

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 damaging
Transcript: ENSMUST00000109277
AA Change: D76V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104900
Gene: ENSMUSG00000047295
AA Change: D76V

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 probably damaging
Transcript: ENSMUST00000130014
AA Change: D333V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118530
Gene: ENSMUSG00000047295
AA Change: D333V

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 unknown
Transcript: ENSMUST00000132674
AA Change: D297V
SMART Domains Protein: ENSMUSP00000120578
Gene: ENSMUSG00000047295
AA Change: D297V

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
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 noncoding transcript
Transcript: ENSMUST00000143271
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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,948,176 H528R probably damaging Het
A530053G22Rik A T 6: 60,402,062 noncoding transcript Het
Aagab A G 9: 63,635,394 probably benign Het
Aknad1 A T 3: 108,781,203 I616F possibly damaging Het
Ap2a1 A C 7: 44,904,055 D629E probably benign Het
Apc2 C A 10: 80,313,386 Q1425K probably damaging Het
Asf1b A C 8: 83,967,913 H102P probably benign Het
Celf6 C T 9: 59,582,282 A90V probably damaging Het
Chrna2 A T 14: 66,142,239 Q9L probably benign Het
Csnk1g3 A G 18: 53,953,284 I420M possibly damaging Het
Eml3 T C 19: 8,939,179 probably benign Het
Epn3 T C 11: 94,491,630 N508S possibly damaging Het
Fam120a T C 13: 48,910,336 Y608C probably damaging Het
Fbn1 A C 2: 125,320,968 C2133G possibly damaging Het
Fhl5 A G 4: 25,211,309 F128L probably damaging Het
Fn1 T C 1: 71,641,262 N428S probably damaging Het
Fxr2 T C 11: 69,649,839 probably null Het
Gabrp T C 11: 33,554,388 Y309C probably damaging Het
Golga2 A G 2: 32,292,156 I50V probably benign Het
Ifi203 C T 1: 173,936,592 G105R possibly damaging Het
Itgav A T 2: 83,765,846 Q201L possibly damaging Het
Jade2 T C 11: 51,825,371 T336A probably damaging Het
Kdm4b A G 17: 56,401,649 D996G probably damaging Het
Me2 A G 18: 73,770,726 I557T probably benign Het
Memo1 A C 17: 74,245,001 L100R probably damaging Het
Mrps2 A G 2: 28,469,806 N225S probably damaging Het
Ndufa2 A G 18: 36,744,225 probably null Het
Olfr130 G T 17: 38,067,384 C71F probably damaging Het
Olfr832 G A 9: 18,945,461 S271N probably benign Het
Pak7 G T 2: 136,098,390 Y501* probably null Het
Pot1b A T 17: 55,695,206 F123I possibly damaging Het
Rev3l T C 10: 39,824,790 V1761A probably benign Het
Samd3 T A 10: 26,230,166 V14E probably damaging Het
Slc4a8 G A 15: 100,799,717 A605T probably benign Het
Spata4 A G 8: 54,602,405 I147V probably benign Het
Ttc23l G A 15: 10,537,566 S206L probably benign Het
Vmn2r73 G A 7: 85,858,287 H606Y probably benign Het
Vsig8 A G 1: 172,560,349 N2S probably damaging Het
Wdr17 A C 8: 54,661,480 I667R probably damaging Het
Yif1b A G 7: 29,238,448 probably null Het
Zbtb5 A T 4: 44,994,003 H460Q possibly damaging Het
Zdhhc21 G A 4: 82,806,327 probably benign Het
Zfp944 A T 17: 22,340,037 H76Q probably damaging Het
Zkscan1 A G 5: 138,094,002 Q146R probably benign Het
Other mutations in Smgc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00797:Smgc APN 15 91854543 splice site probably benign
IGL00835:Smgc APN 15 91844420 missense probably damaging 0.99
IGL01651:Smgc APN 15 91859788 intron probably benign
IGL01669:Smgc APN 15 91860684 missense possibly damaging 0.89
IGL01743:Smgc APN 15 91854593 missense probably benign 0.19
IGL01898:Smgc APN 15 91844524 splice site probably null
IGL03152:Smgc APN 15 91841422 missense possibly damaging 0.66
IGL03352:Smgc APN 15 91860678 missense probably damaging 0.96
IGL03385:Smgc APN 15 91841978 missense possibly damaging 0.66
K7371:Smgc UTSW 15 91860255 splice site probably benign
R0090:Smgc UTSW 15 91859762 missense possibly damaging 0.91
R0125:Smgc UTSW 15 91854543 splice site probably benign
R0386:Smgc UTSW 15 91854638 missense probably benign 0.07
R0684:Smgc UTSW 15 91841467 unclassified probably benign
R1187:Smgc UTSW 15 91860600 missense probably damaging 0.99
R1586:Smgc UTSW 15 91838393 missense possibly damaging 0.90
R1848:Smgc UTSW 15 91859758 missense possibly damaging 0.58
R1964:Smgc UTSW 15 91860270 missense probably damaging 1.00
R2144:Smgc UTSW 15 91844421 missense possibly damaging 0.81
R3499:Smgc UTSW 15 91842003 missense possibly damaging 0.66
R3842:Smgc UTSW 15 91860262 splice site probably benign
R3978:Smgc UTSW 15 91860348 missense probably damaging 0.99
R4173:Smgc UTSW 15 91860561 missense possibly damaging 0.95
R4692:Smgc UTSW 15 91854561 missense possibly damaging 0.46
R4761:Smgc UTSW 15 91845514 missense possibly damaging 0.66
R4794:Smgc UTSW 15 91841454 missense probably benign 0.27
R4801:Smgc UTSW 15 91854616 missense probably benign 0.01
R4802:Smgc UTSW 15 91854616 missense probably benign 0.01
R5621:Smgc UTSW 15 91844420 missense probably damaging 0.99
R5672:Smgc UTSW 15 91841905 missense possibly damaging 0.46
R5707:Smgc UTSW 15 91860663 missense possibly damaging 0.66
R5722:Smgc UTSW 15 91841906 missense possibly damaging 0.83
R6212:Smgc UTSW 15 91850627 intron probably benign
R6767:Smgc UTSW 15 91841398 missense possibly damaging 0.46
R7049:Smgc UTSW 15 91860378 missense possibly damaging 0.82
R7155:Smgc UTSW 15 91852608 missense possibly damaging 0.66
R7210:Smgc UTSW 15 91860294 missense probably damaging 0.99
R7448:Smgc UTSW 15 91845493 missense probably benign 0.02
R7474:Smgc UTSW 15 91860694 missense possibly damaging 0.92
R7890:Smgc UTSW 15 91847076 missense possibly damaging 0.46
R8115:Smgc UTSW 15 91849119 critical splice donor site probably null
Z1177:Smgc UTSW 15 91856621 missense unknown
Z1177:Smgc UTSW 15 91856626 missense unknown
Posted On2016-08-02