Incidental Mutation 'R4479:Tti1'
ID 331387
Institutional Source Beutler Lab
Gene Symbol Tti1
Ensembl Gene ENSMUSG00000027650
Gene Name TELO2 interacting protein 1
Synonyms 2610036D13Rik
MMRRC Submission 041736-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R4479 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 157823723-157870353 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 157850315 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 308 (L308Q)
Ref Sequence ENSEMBL: ENSMUSP00000105148 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029179] [ENSMUST00000109522] [ENSMUST00000124338]
AlphaFold Q91V83
Predicted Effect possibly damaging
Transcript: ENSMUST00000029179
AA Change: L308Q

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029179
Gene: ENSMUSG00000027650
AA Change: L308Q

DomainStartEndE-ValueType
low complexity region 89 101 N/A INTRINSIC
low complexity region 175 189 N/A INTRINSIC
low complexity region 194 206 N/A INTRINSIC
low complexity region 306 319 N/A INTRINSIC
low complexity region 401 411 N/A INTRINSIC
low complexity region 494 504 N/A INTRINSIC
low complexity region 752 768 N/A INTRINSIC
SCOP:d1gw5a_ 855 1044 3e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000109522
AA Change: L308Q

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105148
Gene: ENSMUSG00000027650
AA Change: L308Q

DomainStartEndE-ValueType
low complexity region 89 101 N/A INTRINSIC
low complexity region 175 189 N/A INTRINSIC
low complexity region 194 206 N/A INTRINSIC
low complexity region 306 319 N/A INTRINSIC
low complexity region 401 411 N/A INTRINSIC
low complexity region 494 504 N/A INTRINSIC
low complexity region 752 768 N/A INTRINSIC
SCOP:d1gw5a_ 855 1044 3e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124338
SMART Domains Protein: ENSMUSP00000116592
Gene: ENSMUSG00000027650

DomainStartEndE-ValueType
low complexity region 89 101 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126541
Meta Mutation Damage Score 0.4659 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency 95% (36/38)
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,654,663 (GRCm39) T553A possibly damaging Het
Adamts20 C T 15: 94,301,326 (GRCm39) R66H probably damaging Het
Anks1b A G 10: 89,885,754 (GRCm39) E150G probably damaging Het
Chp2 A G 7: 121,820,141 (GRCm39) D97G probably benign Het
Cnbd2 T C 2: 156,175,573 (GRCm39) probably benign Het
D130040H23Rik C A 8: 69,755,155 (GRCm39) H187N possibly damaging Het
Dusp15 A G 2: 152,786,102 (GRCm39) L135P probably damaging Het
Eif4g1 G T 16: 20,497,593 (GRCm39) probably benign Het
Erlin2 G T 8: 27,515,127 (GRCm39) V10L probably benign Het
F830104G03Rik A G 3: 56,797,634 (GRCm39) S98P unknown Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Gm3159 T C 14: 4,398,584 (GRCm38) Y92H probably damaging Het
Ighv1-22 G T 12: 114,710,283 (GRCm39) A15E possibly damaging Het
Ints4 T C 7: 97,134,178 (GRCm39) S37P probably damaging Het
Irs1 G A 1: 82,265,015 (GRCm39) T1067I probably damaging Het
Lrrc28 C T 7: 67,181,362 (GRCm39) probably null Het
Or10v1 A G 19: 11,873,922 (GRCm39) Y179C probably damaging Het
Or4a71 A G 2: 89,358,514 (GRCm39) I80T possibly damaging Het
Or5ac24 G A 16: 59,165,230 (GRCm39) T278I probably damaging Het
Psg18 C T 7: 18,084,787 (GRCm39) S103N probably benign Het
Psma3 T C 12: 71,031,555 (GRCm39) probably benign Het
Slc7a11 T C 3: 50,372,412 (GRCm39) probably benign Het
Tas2r115 T C 6: 132,714,495 (GRCm39) D152G probably damaging Het
Unc93b1 G A 19: 3,985,236 (GRCm39) A15T probably benign Het
Usp43 G A 11: 67,747,233 (GRCm39) R820C possibly damaging Het
Vmn2r68 TCC TC 7: 84,870,758 (GRCm39) probably null Het
Vps8 A T 16: 21,363,986 (GRCm39) probably benign Het
Wdr73 T C 7: 80,542,969 (GRCm39) E213G probably benign Het
Zfp286 C G 11: 62,671,030 (GRCm39) G348R probably damaging Het
Zkscan5 T C 5: 145,147,984 (GRCm39) probably benign Het
Other mutations in Tti1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Tti1 APN 2 157,850,885 (GRCm39) missense probably damaging 1.00
IGL00434:Tti1 APN 2 157,850,886 (GRCm39) missense probably damaging 1.00
IGL00820:Tti1 APN 2 157,850,888 (GRCm39) missense probably damaging 1.00
IGL00949:Tti1 APN 2 157,824,319 (GRCm39) missense probably benign 0.00
IGL01080:Tti1 APN 2 157,824,379 (GRCm39) missense probably damaging 1.00
IGL01084:Tti1 APN 2 157,824,379 (GRCm39) missense probably damaging 1.00
IGL01339:Tti1 APN 2 157,851,050 (GRCm39) missense possibly damaging 0.80
IGL01685:Tti1 APN 2 157,842,705 (GRCm39) missense probably benign 0.01
IGL01866:Tti1 APN 2 157,849,618 (GRCm39) missense probably benign 0.27
IGL01903:Tti1 APN 2 157,842,542 (GRCm39) missense probably benign 0.01
IGL03142:Tti1 APN 2 157,842,597 (GRCm39) missense probably damaging 0.99
IGL03173:Tti1 APN 2 157,848,932 (GRCm39) unclassified probably benign
IGL03385:Tti1 APN 2 157,834,945 (GRCm39) missense possibly damaging 0.86
R0413:Tti1 UTSW 2 157,837,396 (GRCm39) missense probably benign 0.00
R0601:Tti1 UTSW 2 157,835,292 (GRCm39) missense probably damaging 0.99
R1718:Tti1 UTSW 2 157,850,144 (GRCm39) missense probably benign 0.40
R1760:Tti1 UTSW 2 157,834,955 (GRCm39) missense possibly damaging 0.87
R1761:Tti1 UTSW 2 157,849,617 (GRCm39) missense probably benign 0.01
R1968:Tti1 UTSW 2 157,850,966 (GRCm39) missense possibly damaging 0.66
R2054:Tti1 UTSW 2 157,849,365 (GRCm39) missense possibly damaging 0.79
R2131:Tti1 UTSW 2 157,842,663 (GRCm39) missense probably benign
R3886:Tti1 UTSW 2 157,850,870 (GRCm39) missense possibly damaging 0.74
R4647:Tti1 UTSW 2 157,848,940 (GRCm39) unclassified probably benign
R5124:Tti1 UTSW 2 157,850,115 (GRCm39) missense probably damaging 0.99
R5145:Tti1 UTSW 2 157,850,432 (GRCm39) missense probably benign 0.30
R5852:Tti1 UTSW 2 157,842,593 (GRCm39) missense probably damaging 1.00
R6667:Tti1 UTSW 2 157,850,347 (GRCm39) nonsense probably null
R6714:Tti1 UTSW 2 157,848,971 (GRCm39) missense possibly damaging 0.73
R6719:Tti1 UTSW 2 157,824,220 (GRCm39) missense probably benign 0.01
R7143:Tti1 UTSW 2 157,849,596 (GRCm39) missense probably benign
R7490:Tti1 UTSW 2 157,837,392 (GRCm39) missense probably damaging 1.00
R7540:Tti1 UTSW 2 157,849,916 (GRCm39) missense probably benign 0.43
R7549:Tti1 UTSW 2 157,849,088 (GRCm39) missense probably damaging 1.00
R7641:Tti1 UTSW 2 157,850,949 (GRCm39) missense possibly damaging 0.92
R7654:Tti1 UTSW 2 157,850,474 (GRCm39) missense probably benign 0.00
R7716:Tti1 UTSW 2 157,842,618 (GRCm39) missense probably benign 0.43
R7722:Tti1 UTSW 2 157,849,527 (GRCm39) missense probably benign 0.00
R7898:Tti1 UTSW 2 157,835,390 (GRCm39) missense probably benign 0.00
R8117:Tti1 UTSW 2 157,849,418 (GRCm39) missense probably damaging 1.00
R8145:Tti1 UTSW 2 157,849,509 (GRCm39) nonsense probably null
R8249:Tti1 UTSW 2 157,842,635 (GRCm39) missense probably benign
R8712:Tti1 UTSW 2 157,834,930 (GRCm39) missense probably damaging 1.00
R8784:Tti1 UTSW 2 157,850,514 (GRCm39) missense probably benign 0.02
R8912:Tti1 UTSW 2 157,851,188 (GRCm39) missense probably benign 0.00
R9352:Tti1 UTSW 2 157,842,692 (GRCm39) missense probably benign 0.00
R9725:Tti1 UTSW 2 157,849,304 (GRCm39) missense probably benign 0.13
Z1176:Tti1 UTSW 2 157,824,349 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GACAAGATGTCAGCCAAGGC -3'
(R):5'- ACAGTGGGCTTCATCATGG -3'

Sequencing Primer
(F):5'- GGCTCTGCTGCCCACTAC -3'
(R):5'- TCACAGAGAAGCAGACTG -3'
Posted On 2015-07-21