Incidental Mutation 'R3978:Smgc'
ID 311155
Institutional Source Beutler Lab
Gene Symbol Smgc
Ensembl Gene ENSMUSG00000047295
Gene Name submandibular gland protein C
Synonyms Sfc21, DXImx49e, 2310010P21Rik
MMRRC Submission 040941-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # R3978 (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 91744546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 301 (D301V)
Ref Sequence ENSEMBL: ENSMUSP00000118530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088555] [ENSMUST00000100293] [ENSMUST00000109276] [ENSMUST00000109277] [ENSMUST00000130014]
AlphaFold Q6JHY2
Predicted Effect probably damaging
Transcript: ENSMUST00000088555
AA Change: D649V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000085915
Gene: ENSMUSG00000047295
AA Change: D649V

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: D616V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097866
Gene: ENSMUSG00000047295
AA Change: D616V

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: D73V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104899
Gene: ENSMUSG00000047295
AA Change: D73V

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: D44V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104900
Gene: ENSMUSG00000047295
AA Change: D44V

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: D301V

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118530
Gene: ENSMUSG00000047295
AA Change: D301V

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: D265V
SMART Domains Protein: ENSMUSP00000120578
Gene: ENSMUSG00000047295
AA Change: D265V

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 unknown
Transcript: ENSMUST00000136172
AA Change: D240V
SMART Domains Protein: ENSMUSP00000119575
Gene: ENSMUSG00000047295
AA Change: D240V

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (65/65)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,889,435 (GRCm39) T61A probably benign Het
Adam28 A G 14: 68,848,443 (GRCm39) V671A probably benign Het
Ankhd1 A T 18: 36,780,666 (GRCm39) H1906L probably damaging Het
Ano5 G A 7: 51,237,554 (GRCm39) V743I probably benign Het
Arfgef1 A G 1: 10,279,859 (GRCm39) V236A probably benign Het
Arid2 A G 15: 96,261,503 (GRCm39) D453G probably damaging Het
Atp2b1 C A 10: 98,832,795 (GRCm39) probably null Het
Azin1 A T 15: 38,498,957 (GRCm39) N135K probably damaging Het
B020004C17Rik G T 14: 57,254,645 (GRCm39) M156I possibly damaging Het
Cfap54 T C 10: 92,798,274 (GRCm39) T1662A probably benign Het
Cog8 T A 8: 107,779,669 (GRCm39) I203F probably damaging Het
Col6a6 T C 9: 105,576,078 (GRCm39) H2094R probably damaging Het
Cybb T C X: 9,310,827 (GRCm39) Y425C probably damaging Het
Dab2 A G 15: 6,464,644 (GRCm39) probably null Het
Dpyd AAAT AAATGTATATAAAT 3: 118,690,737 (GRCm39) probably benign Het
Dpyd AAT AATGTATATATAT 3: 118,690,738 (GRCm39) probably benign Het
Eif3i T C 4: 129,486,129 (GRCm39) E276G probably damaging Het
Fam171a1 A C 2: 3,226,072 (GRCm39) M402L probably benign Het
Fga A T 3: 82,937,490 (GRCm39) probably null Het
Foxp2 A G 6: 15,197,207 (GRCm39) probably benign Het
Gbp2 C T 3: 142,335,747 (GRCm39) T149I possibly damaging Het
Gm9631 A G 11: 121,834,394 (GRCm39) Y281H possibly damaging Het
Gpr21 C T 2: 37,407,862 (GRCm39) T136I probably benign Het
Gprc5b C T 7: 118,583,354 (GRCm39) V172M probably damaging Het
Gprc6a C A 10: 51,497,197 (GRCm39) V449L probably benign Het
Hdlbp T C 1: 93,349,073 (GRCm39) I535V probably damaging Het
Helb A G 10: 119,925,530 (GRCm39) V949A probably benign Het
Hoxc13 T C 15: 102,829,675 (GRCm39) V18A possibly damaging Het
Hr A G 14: 70,801,024 (GRCm39) T699A probably benign Het
Il27ra G A 8: 84,767,313 (GRCm39) T170I probably benign Het
Insm2 T C 12: 55,647,623 (GRCm39) Y456H probably benign Het
Katna1 T C 10: 7,628,518 (GRCm39) M249T probably damaging Het
Lin9 T A 1: 180,496,357 (GRCm39) I298N possibly damaging Het
Lyst G A 13: 13,808,753 (GRCm39) R141Q possibly damaging Het
Nos3 T A 5: 24,582,929 (GRCm39) D685E probably damaging Het
Oasl1 C T 5: 115,070,957 (GRCm39) T274I probably damaging Het
Or5p61 A G 7: 107,758,819 (GRCm39) M87T possibly damaging Het
Pdgfrb A T 18: 61,206,757 (GRCm39) H661L probably damaging Het
Ppfia2 A G 10: 106,666,490 (GRCm39) T399A possibly damaging Het
Ppp1ca T C 19: 4,242,253 (GRCm39) I13T probably benign Het
Psmd1 T C 1: 86,055,909 (GRCm39) M757T probably benign Het
Rdh19 A T 10: 127,685,944 (GRCm39) R19W possibly damaging Het
Rfx7 A G 9: 72,522,393 (GRCm39) T296A possibly damaging Het
Rgl2 G A 17: 34,154,136 (GRCm39) R472H probably benign Het
Rhcg T C 7: 79,267,147 (GRCm39) E43G probably benign Het
Rif1 T A 2: 52,006,759 (GRCm39) probably null Het
Rorb A G 19: 18,915,254 (GRCm39) V468A probably benign Het
Rxrb C T 17: 34,255,300 (GRCm39) P209L possibly damaging Het
Sbf2 G T 7: 109,929,092 (GRCm39) T1438K probably benign Het
Setd3 A T 12: 108,124,201 (GRCm39) C163S possibly damaging Het
Slc15a1 C T 14: 121,727,239 (GRCm39) D110N probably benign Het
Slc26a3 T A 12: 31,515,859 (GRCm39) probably null Het
Slc5a5 A G 8: 71,342,039 (GRCm39) V305A probably benign Het
Slc6a6 A T 6: 91,732,033 (GRCm39) M621L probably benign Het
Spata31d1c A G 13: 65,182,974 (GRCm39) D172G possibly damaging Het
Syt15 T A 14: 33,945,061 (GRCm39) C203S probably benign Het
Tdrd1 A G 19: 56,855,066 (GRCm39) R1171G probably benign Het
Trp63 A G 16: 25,639,490 (GRCm39) probably benign Het
Tspan9 A G 6: 127,944,210 (GRCm39) V30A probably damaging Het
Ubp1 A T 9: 113,785,773 (GRCm39) probably null Het
Vmn2r68 T A 7: 84,881,670 (GRCm39) Y470F probably benign Het
Wbp1l T A 19: 46,642,396 (GRCm39) probably null Het
Wee1 G T 7: 109,723,762 (GRCm39) D226Y probably damaging Het
Yap1 C T 9: 8,004,285 (GRCm39) G36D probably damaging Het
Zmym6 T C 4: 127,017,348 (GRCm39) I951T possibly 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
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'- GCTGTGATCATCCTGGTTCC -3'
(R):5'- CTTCTACTTCCAGACCCAGAAG -3'

Sequencing Primer
(F):5'- GTTCCCACACACTGTAGATGTGAAG -3'
(R):5'- ACAAATTATGGCTTCCTGGGG -3'
Posted On 2015-04-29