Incidental Mutation 'R9367:Ssu2'
ID 709047
Institutional Source Beutler Lab
Gene Symbol Ssu2
Ensembl Gene ENSMUSG00000034387
Gene Name ssu-2 homolog
Synonyms D630042P16Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R9367 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 112336285-112364984 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 112357975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 123 (S123P)
Ref Sequence ENSEMBL: ENSMUSP00000052328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060847]
AlphaFold Q8C3L1
Predicted Effect probably damaging
Transcript: ENSMUST00000060847
AA Change: S123P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000052328
Gene: ENSMUSG00000034387
AA Change: S123P

DomainStartEndE-ValueType
internal_repeat_1 177 194 6.13e-5 PROSPERO
internal_repeat_1 188 205 6.13e-5 PROSPERO
low complexity region 214 234 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice heterozygous or homozygous for a knock-in allele exhibit abnormal tooth morphology, narrowed pulp cavity, increased dentin thickness, abnormal tooth attrition and collagenous attachment to the gum. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
4930568D16Rik A T 2: 35,244,939 (GRCm39) Y138N probably benign Het
Abca4 T C 3: 121,838,197 (GRCm39) M1T probably null Het
Acer3 A G 7: 97,908,621 (GRCm39) V104A probably damaging Het
Agpat4 A G 17: 12,435,597 (GRCm39) E287G probably benign Het
Akip1 C T 7: 109,308,156 (GRCm39) A146V unknown Het
Ank2 T C 3: 126,738,678 (GRCm39) N2402S unknown Het
Arhgdig A T 17: 26,418,451 (GRCm39) Y177* probably null Het
Arhgef38 T A 3: 132,847,998 (GRCm39) T355S unknown Het
Atp8a2 C A 14: 60,249,827 (GRCm39) probably null Het
Atp8b4 A G 2: 126,216,430 (GRCm39) I672T probably damaging Het
Baat T A 4: 49,503,008 (GRCm39) D38V probably damaging Het
Bcl9 T C 3: 97,117,861 (GRCm39) S278G probably benign Het
Ccdc150 C T 1: 54,324,760 (GRCm39) L350F probably damaging Het
Ceacam20 T G 7: 19,705,533 (GRCm39) S175A probably damaging Het
Chd6 A T 2: 160,871,784 (GRCm39) I217K possibly damaging Het
Cnppd1 T C 1: 75,117,617 (GRCm39) I35V probably benign Het
Col15a1 T C 4: 47,245,603 (GRCm39) I118T probably damaging Het
Csmd3 A T 15: 47,567,564 (GRCm39) Y1289N Het
Dio2 T C 12: 90,696,587 (GRCm39) T134A probably benign Het
Dnaaf9 A T 2: 130,581,380 (GRCm39) N678K probably benign Het
Dnah17 A G 11: 117,987,464 (GRCm39) V1282A possibly damaging Het
Dnah17 A G 11: 118,012,212 (GRCm39) S517P possibly damaging Het
Dync2h1 C T 9: 7,125,730 (GRCm39) probably null Het
Echdc2 C A 4: 108,036,111 (GRCm39) P274Q probably damaging Het
Fam117a T A 11: 95,271,570 (GRCm39) C381S probably damaging Het
Fbxl12 A G 9: 20,550,130 (GRCm39) F122S probably damaging Het
Gen1 G A 12: 11,291,309 (GRCm39) Q892* probably null Het
Gimap4 A G 6: 48,667,746 (GRCm39) Y167C probably damaging Het
Gle1 T A 2: 29,839,014 (GRCm39) F476L probably damaging Het
Gpr135 A T 12: 72,117,473 (GRCm39) V98E possibly damaging Het
Greb1l A T 18: 10,522,130 (GRCm39) H742L probably benign Het
Habp2 G T 19: 56,304,781 (GRCm39) C392F probably damaging Het
Hapln3 G T 7: 78,771,455 (GRCm39) R145S probably damaging Het
Ikbkb A G 8: 23,171,711 (GRCm39) C179R probably damaging Het
Kat6a A T 8: 23,400,156 (GRCm39) I306L possibly damaging Het
Lmo3 A T 6: 138,342,958 (GRCm39) Y140* probably null Het
Lrrc32 T A 7: 98,148,937 (GRCm39) N572K probably damaging Het
Lrrn1 T A 6: 107,545,093 (GRCm39) M297K probably damaging Het
Magi2 G A 5: 20,766,308 (GRCm39) V676I probably damaging Het
Mdga1 T C 17: 30,051,282 (GRCm39) *957W probably null Het
Mip G T 10: 128,063,029 (GRCm39) G158V probably damaging Het
Mmp14 T C 14: 54,677,960 (GRCm39) I527T probably benign Het
Mmp27 G A 9: 7,573,550 (GRCm39) G188D probably damaging Het
Mylk4 A T 13: 32,960,236 (GRCm39) C17S possibly damaging Het
Naa50 T G 16: 43,977,554 (GRCm39) I94R probably damaging Het
Nyap1 A T 5: 137,734,248 (GRCm39) Y262N probably damaging Het
Obsl1 A G 1: 75,466,177 (GRCm39) V1517A probably benign Het
P4htm T A 9: 108,459,147 (GRCm39) M262L probably benign Het
Pappa2 T C 1: 158,784,542 (GRCm39) E156G probably benign Het
Pcdhb15 A T 18: 37,607,971 (GRCm39) Y401F possibly damaging Het
Pde2a G A 7: 101,160,361 (GRCm39) R845H probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Penk C T 4: 4,134,097 (GRCm39) M183I probably benign Het
Pole T C 5: 110,444,955 (GRCm39) V437A probably damaging Het
Ppp1r7 T C 1: 93,279,262 (GRCm39) I114T probably damaging Het
Prr27 C A 5: 87,990,994 (GRCm39) P202Q probably benign Het
Pwp2 G A 10: 78,014,827 (GRCm39) Q386* probably null Het
Rad17 A T 13: 100,769,720 (GRCm39) S280T possibly damaging Het
Rhebl1 C T 15: 98,776,414 (GRCm39) E128K possibly damaging Het
Sema3e G T 5: 14,291,084 (GRCm39) V615L probably benign Het
Slc22a2 A T 17: 12,824,837 (GRCm39) Y233F probably benign Het
Stk10 A G 11: 32,538,878 (GRCm39) E239G Het
Surf6 G T 2: 26,782,380 (GRCm39) Q316K probably damaging Het
Tcerg1 G A 18: 42,685,573 (GRCm39) D637N possibly damaging Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tnxb C A 17: 34,931,993 (GRCm39) F2175L probably damaging Het
Trp53i11 G C 2: 93,029,273 (GRCm39) V91L probably benign Het
Tspan9 A G 6: 127,944,102 (GRCm39) V66A probably damaging Het
Usp16 C T 16: 87,261,669 (GRCm39) T95M probably benign Het
Usp9y A T Y: 1,324,982 (GRCm39) F1691Y probably damaging Het
Uty A T Y: 1,099,584 (GRCm39) L1204I possibly damaging Het
Vmn1r192 A T 13: 22,371,800 (GRCm39) V140D possibly damaging Het
Vps54 T C 11: 21,250,234 (GRCm39) V552A probably benign Het
Vps8 T C 16: 21,340,668 (GRCm39) V804A possibly damaging Het
Zfp869 A C 8: 70,161,057 (GRCm39) L33R probably damaging Het
Other mutations in Ssu2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01631:Ssu2 APN 6 112,351,843 (GRCm39) missense probably damaging 1.00
IGL01752:Ssu2 APN 6 112,352,553 (GRCm39) missense probably damaging 1.00
IGL02820:Ssu2 APN 6 112,359,353 (GRCm39) missense probably benign 0.13
R0047:Ssu2 UTSW 6 112,351,781 (GRCm39) missense probably damaging 1.00
R0047:Ssu2 UTSW 6 112,351,781 (GRCm39) missense probably damaging 1.00
R0551:Ssu2 UTSW 6 112,357,515 (GRCm39) missense possibly damaging 0.86
R0931:Ssu2 UTSW 6 112,361,359 (GRCm39) missense probably damaging 1.00
R1350:Ssu2 UTSW 6 112,351,807 (GRCm39) nonsense probably null
R1512:Ssu2 UTSW 6 112,364,959 (GRCm39) start codon destroyed probably null 0.91
R1908:Ssu2 UTSW 6 112,361,388 (GRCm39) missense probably benign 0.00
R2013:Ssu2 UTSW 6 112,360,902 (GRCm39) missense possibly damaging 0.85
R2915:Ssu2 UTSW 6 112,354,566 (GRCm39) nonsense probably null
R4526:Ssu2 UTSW 6 112,359,383 (GRCm39) missense possibly damaging 0.73
R4782:Ssu2 UTSW 6 112,353,411 (GRCm39) missense probably damaging 1.00
R5099:Ssu2 UTSW 6 112,336,585 (GRCm39) missense probably benign 0.34
R5396:Ssu2 UTSW 6 112,357,957 (GRCm39) missense probably damaging 0.99
R6223:Ssu2 UTSW 6 112,353,409 (GRCm39) nonsense probably null
R6241:Ssu2 UTSW 6 112,351,781 (GRCm39) missense probably damaging 1.00
R6476:Ssu2 UTSW 6 112,351,793 (GRCm39) missense probably damaging 1.00
R8099:Ssu2 UTSW 6 112,353,438 (GRCm39) missense probably benign 0.34
R8440:Ssu2 UTSW 6 112,364,950 (GRCm39) missense probably benign 0.01
R8712:Ssu2 UTSW 6 112,361,399 (GRCm39) missense probably damaging 1.00
R8750:Ssu2 UTSW 6 112,359,312 (GRCm39) missense possibly damaging 0.93
R8872:Ssu2 UTSW 6 112,357,956 (GRCm39) missense probably damaging 0.99
R8972:Ssu2 UTSW 6 112,360,898 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCATCATGTGATAGTCAGTGGG -3'
(R):5'- AAGTCAGGGGTGCTTAGAGC -3'

Sequencing Primer
(F):5'- TCATGTGATAGTCAGTGGGGGAAC -3'
(R):5'- TGTACCACGGGCAAGCAG -3'
Posted On 2022-04-18