Incidental Mutation 'R2915:Ssu2'
ID 254841
Institutional Source Beutler Lab
Gene Symbol Ssu2
Ensembl Gene ENSMUSG00000034387
Gene Name ssu-2 homolog
Synonyms D630042P16Rik
MMRRC Submission 040502-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.081) question?
Stock # R2915 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 112336285-112364984 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 112354566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 219 (C219*)
Ref Sequence ENSEMBL: ENSMUSP00000052328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060847]
AlphaFold Q8C3L1
Predicted Effect probably null
Transcript: ENSMUST00000060847
AA Change: C219*
SMART Domains Protein: ENSMUSP00000052328
Gene: ENSMUSG00000034387
AA Change: C219*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123254
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143134
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (50/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Arhgap11a A G 2: 113,663,853 (GRCm39) V810A probably damaging Het
B3gnt6 T C 7: 97,842,800 (GRCm39) N387D probably benign Het
Col5a2 C G 1: 45,452,656 (GRCm39) G358R probably damaging Het
Cracr2a A G 6: 127,588,468 (GRCm39) K209R probably damaging Het
Dmkn A G 7: 30,464,741 (GRCm39) N32S unknown Het
Dusp13b T A 14: 21,790,205 (GRCm39) N47I probably damaging Het
Elmo2 A G 2: 165,139,573 (GRCm39) probably benign Het
Ephb6 T C 6: 41,591,172 (GRCm39) F110L probably damaging Het
Gabrb2 T A 11: 42,482,734 (GRCm39) N197K probably benign Het
Gdnf T A 15: 7,845,130 (GRCm39) V41E possibly damaging Het
Gm21915 A G 9: 40,582,083 (GRCm39) I59V possibly damaging Het
Gprin2 C T 14: 33,917,038 (GRCm39) G244D possibly damaging Het
Grin2d T C 7: 45,482,781 (GRCm39) probably benign Het
Ice2 A G 9: 69,318,122 (GRCm39) D241G probably benign Het
Mios C T 6: 8,214,935 (GRCm39) R44C possibly damaging Het
Nlrp5-ps T C 7: 14,320,636 (GRCm39) noncoding transcript Het
Nyap2 C T 1: 81,065,188 (GRCm39) R67* probably null Het
Or4d6 G A 19: 12,085,989 (GRCm39) P81L probably benign Het
Or4f14 G T 2: 111,743,064 (GRCm39) D70E probably damaging Het
Or5m8 T A 2: 85,822,389 (GRCm39) V76E probably damaging Het
Or5t9 T C 2: 86,659,570 (GRCm39) I158T probably benign Het
Or8g19 G T 9: 39,055,762 (GRCm39) R122L possibly damaging Het
Otop2 G A 11: 115,219,972 (GRCm39) A271T probably benign Het
Otulin A G 15: 27,619,716 (GRCm39) probably benign Het
Pax1 A G 2: 147,210,348 (GRCm39) Y361C probably damaging Het
Pcdhb12 A T 18: 37,570,693 (GRCm39) N613I probably damaging Het
Plekha5 A G 6: 140,534,925 (GRCm39) K173E probably damaging Het
Plin4 T A 17: 56,411,389 (GRCm39) T881S probably damaging Het
Poli A G 18: 70,655,771 (GRCm39) probably null Het
Prex2 T A 1: 11,240,077 (GRCm39) F898I probably damaging Het
Prr14l A T 5: 32,987,112 (GRCm39) H794Q probably benign Het
Prss1 A T 6: 41,439,545 (GRCm39) I93F probably benign Het
Ptpro C T 6: 137,391,239 (GRCm39) probably benign Het
Rad1 T C 15: 10,486,728 (GRCm39) C42R probably damaging Het
Rnf20 A G 4: 49,638,769 (GRCm39) E197G probably benign Het
Setx A G 2: 29,062,336 (GRCm39) E2260G probably damaging Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Six2 A G 17: 85,992,616 (GRCm39) S296P probably damaging Het
Smg1 T A 7: 117,810,102 (GRCm39) probably benign Het
Spred2 T C 11: 19,948,215 (GRCm39) V41A probably damaging Het
Tbc1d9b T A 11: 50,040,563 (GRCm39) V360D possibly damaging Het
Tdrd9 G A 12: 112,006,895 (GRCm39) D920N probably damaging Het
Tyrp1 A G 4: 80,755,692 (GRCm39) T154A possibly damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Wac A C 18: 7,926,131 (GRCm39) M596L possibly damaging Het
Zfhx2 G T 14: 55,302,014 (GRCm39) P1990Q probably damaging Het
Zfp853 T C 5: 143,275,332 (GRCm39) E96G unknown Het
Zzef1 G A 11: 72,801,152 (GRCm39) probably null 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
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
R9367:Ssu2 UTSW 6 112,357,975 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACTTCTTGATATGCCAGGCC -3'
(R):5'- ACCACTGATCAAGGCTATGGC -3'

Sequencing Primer
(F):5'- TCTTGATATGCCAGGCCATGAGAC -3'
(R):5'- GCTATGGCCCAAAGGAGG -3'
Posted On 2014-12-29