Incidental Mutation 'R0551:Ssu2'
ID45167
Institutional Source Beutler Lab
Gene Symbol Ssu2
Ensembl Gene ENSMUSG00000034387
Gene Namessu-2 homolog (C. elegans)
SynonymsD630042P16Rik
MMRRC Submission 038743-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.087) question?
Stock #R0551 (G1)
Quality Score225
Status Validated
Chromosome6
Chromosomal Location112359324-112388023 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 112380554 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 175 (V175A)
Ref Sequence ENSEMBL: ENSMUSP00000052328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060847]
Predicted Effect possibly damaging
Transcript: ENSMUST00000060847
AA Change: V175A

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000052328
Gene: ENSMUSG00000034387
AA Change: V175A

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 0.1634 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 95.1%
Validation Efficiency 99% (77/78)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,662,641 T456S probably benign Het
5830473C10Rik C T 5: 90,572,719 P250S probably damaging Het
Acmsd A T 1: 127,766,333 K333N probably benign Het
Adcy2 T A 13: 68,796,539 K241N probably damaging Het
Aebp1 A G 11: 5,867,955 I77V probably benign Het
Ankrd35 A G 3: 96,683,960 T521A probably benign Het
Arap2 C T 5: 62,641,323 probably null Het
Arfgap3 A T 15: 83,343,137 C25S probably damaging Het
Arhgap20 T A 9: 51,825,825 probably benign Het
Arhgap39 C T 15: 76,734,886 D833N probably damaging Het
Auts2 T C 5: 131,440,469 E446G possibly damaging Het
Brwd1 C T 16: 96,035,974 R886H probably damaging Het
Carm1 G A 9: 21,580,491 probably null Het
Cdc5l G A 17: 45,415,684 R321W probably damaging Het
Cfap54 A T 10: 93,025,122 M841K probably benign Het
Clca4b T A 3: 144,928,626 T69S probably damaging Het
Cpox A G 16: 58,675,390 I357V probably benign Het
Diaph3 C A 14: 86,910,100 V711L probably benign Het
Fabp3-ps1 T C 10: 86,732,040 probably benign Het
Fam120b A T 17: 15,431,643 probably benign Het
Fcho1 A G 8: 71,712,174 S488P probably benign Het
Flcn A G 11: 59,795,748 probably null Het
Flt3l A G 7: 45,132,266 W234R probably damaging Het
Fzd7 G T 1: 59,483,284 V109L probably damaging Het
G3bp1 A G 11: 55,489,143 N101S probably benign Het
Gadd45g A G 13: 51,847,927 E143G probably damaging Het
Ganab T G 19: 8,907,280 I149S probably benign Het
Garnl3 A G 2: 33,016,738 S413P probably damaging Het
Glis1 C T 4: 107,568,119 probably null Het
Gm11563 A G 11: 99,658,713 S72P unknown Het
Gpd1 T G 15: 99,720,629 I188S possibly damaging Het
Gria2 A G 3: 80,732,026 probably benign Het
H2afy2 A G 10: 61,741,166 S308P probably damaging Het
Hpcal4 G T 4: 123,189,055 A65S possibly damaging Het
Igsf10 G A 3: 59,328,668 T1364I probably benign Het
Kdm4a T C 4: 118,138,231 *1065W probably null Het
Klkb1 A G 8: 45,277,966 probably null Het
Lipo3 T C 19: 33,580,551 D147G probably damaging Het
Lrp1 A G 10: 127,571,958 S1821P probably benign Het
Manba T C 3: 135,517,973 I207T probably damaging Het
Mark3 T A 12: 111,633,634 S428T probably benign Het
Mfsd4a G A 1: 132,041,919 T348I probably damaging Het
Mfsd7a A G 5: 108,444,465 probably benign Het
Mybbp1a A G 11: 72,448,376 M880V probably benign Het
N4bp2 T A 5: 65,820,341 probably null Het
Nrd1 T G 4: 109,047,708 I712S probably damaging Het
Nup210 G A 6: 91,021,484 R774C possibly damaging Het
Obscn G A 11: 59,107,862 R1395* probably null Het
Olfr1454 T A 19: 13,064,294 D294E probably benign Het
Pcdh7 T C 5: 57,721,994 Y964H probably damaging Het
Plin4 T C 17: 56,106,756 T290A probably benign Het
Ppara T C 15: 85,787,105 probably benign Het
Psg21 T G 7: 18,652,640 probably null Het
Ptar1 C A 19: 23,720,340 N405K probably benign Het
Ralgps2 A G 1: 156,832,663 probably null Het
Rnf6 T A 5: 146,211,395 N271I possibly damaging Het
Sis T C 3: 72,925,407 D1019G possibly damaging Het
Slc37a3 A G 6: 39,352,754 probably benign Het
Slc6a12 G A 6: 121,356,918 V238I probably damaging Het
Sntg1 C A 1: 8,554,736 V279L possibly damaging Het
Sorbs1 T A 19: 40,311,816 E567D probably damaging Het
Sp110 C A 1: 85,589,100 probably benign Het
Stk36 G A 1: 74,616,621 E428K probably benign Het
Teddm1b A T 1: 153,875,344 I300F possibly damaging Het
Thy1 T C 9: 44,047,348 V129A probably damaging Het
Tiam2 T A 17: 3,428,954 M654K probably damaging Het
Tmem69 T C 4: 116,553,273 S167G probably benign Het
Tmem8 C A 17: 26,120,602 Q605K probably damaging Het
Tmem81 C G 1: 132,507,829 I124M probably damaging Het
Tspan10 A G 11: 120,444,418 D118G probably damaging Het
Tspo2 A G 17: 48,448,813 probably benign Het
Ttn G A 2: 76,908,328 Q4002* probably null Het
Tyro3 G A 2: 119,816,904 R834Q probably damaging Het
Ugt2b1 T C 5: 86,926,084 K139E probably benign Het
Vmn1r9 A T 6: 57,071,539 I200F probably benign Het
Other mutations in Ssu2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01631:Ssu2 APN 6 112374882 missense probably damaging 1.00
IGL01752:Ssu2 APN 6 112375592 missense probably damaging 1.00
IGL02820:Ssu2 APN 6 112382392 missense probably benign 0.13
R0047:Ssu2 UTSW 6 112374820 missense probably damaging 1.00
R0047:Ssu2 UTSW 6 112374820 missense probably damaging 1.00
R0931:Ssu2 UTSW 6 112384398 missense probably damaging 1.00
R1350:Ssu2 UTSW 6 112374846 nonsense probably null
R1512:Ssu2 UTSW 6 112387998 start codon destroyed probably null 0.91
R1908:Ssu2 UTSW 6 112384427 missense probably benign 0.00
R2013:Ssu2 UTSW 6 112383941 missense possibly damaging 0.85
R2915:Ssu2 UTSW 6 112377605 nonsense probably null
R4526:Ssu2 UTSW 6 112382422 missense possibly damaging 0.73
R4782:Ssu2 UTSW 6 112376450 missense probably damaging 1.00
R5099:Ssu2 UTSW 6 112359624 missense probably benign 0.34
R5396:Ssu2 UTSW 6 112380996 missense probably damaging 0.99
R6223:Ssu2 UTSW 6 112376448 nonsense probably null
R6241:Ssu2 UTSW 6 112374820 missense probably damaging 1.00
R6476:Ssu2 UTSW 6 112374832 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGTGAATGCTGCCTCCCAAAG -3'
(R):5'- ACTAACACTGAATCTGATGCTCGCC -3'

Sequencing Primer
(F):5'- CAAAGGTGCAGGCTGTTC -3'
(R):5'- GGAATGGCTTTCATCTCAGAGAC -3'
Posted On2013-06-11