Incidental Mutation 'R7722:Tti1'
| ID |
595264 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tti1
|
| Ensembl Gene |
ENSMUSG00000027650 |
| Gene Name |
TELO2 interacting protein 1 |
| Synonyms |
2610036D13Rik |
| MMRRC Submission |
045778-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R7722 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
157823723-157870353 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 157849527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 571
(Y571H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029179
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029179]
[ENSMUST00000109522]
[ENSMUST00000124338]
|
| AlphaFold |
Q91V83 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029179
AA Change: Y571H
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000029179
Gene: ENSMUSG00000027650
AA Change: Y571H
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000109522
AA Change: Y571H
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000105148
Gene: ENSMUSG00000027650
AA Change: Y571H
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
89 |
101 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (57/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
A |
G |
17: 14,029,231 (GRCm39) |
E151G |
probably benign |
Het |
| Alpk2 |
A |
T |
18: 65,483,228 (GRCm39) |
L260H |
probably damaging |
Het |
| Amh |
T |
C |
10: 80,642,458 (GRCm39) |
V247A |
probably benign |
Het |
| Ank2 |
T |
A |
3: 126,822,951 (GRCm39) |
I431L |
probably benign |
Het |
| Ano7 |
G |
A |
1: 93,318,145 (GRCm39) |
A286T |
probably damaging |
Het |
| Atp8a1 |
T |
A |
5: 67,780,041 (GRCm39) |
|
probably null |
Het |
| Brd1 |
A |
T |
15: 88,613,762 (GRCm39) |
S378T |
probably damaging |
Het |
| Clrn1 |
T |
A |
3: 58,753,755 (GRCm39) |
N202I |
possibly damaging |
Het |
| Cspp1 |
T |
C |
1: 10,145,126 (GRCm39) |
V308A |
probably benign |
Het |
| Cyp2a5 |
T |
C |
7: 26,536,543 (GRCm39) |
L174P |
probably benign |
Het |
| Ehbp1 |
G |
A |
11: 22,039,572 (GRCm39) |
H843Y |
probably null |
Het |
| Fancm |
T |
A |
12: 65,153,235 (GRCm39) |
D1230E |
probably damaging |
Het |
| Fbxl17 |
A |
T |
17: 63,663,823 (GRCm39) |
N555K |
probably damaging |
Het |
| Fmnl2 |
A |
C |
2: 52,944,479 (GRCm39) |
S153R |
|
Het |
| Fras1 |
G |
A |
5: 96,917,413 (GRCm39) |
V3478M |
probably damaging |
Het |
| Gnptab |
T |
C |
10: 88,215,390 (GRCm39) |
F37S |
probably damaging |
Het |
| Gpr183 |
T |
G |
14: 122,192,270 (GRCm39) |
I84L |
probably damaging |
Het |
| Hcn1 |
A |
G |
13: 118,039,314 (GRCm39) |
H410R |
unknown |
Het |
| Hmcn1 |
A |
G |
1: 150,543,631 (GRCm39) |
V2848A |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,272,512 (GRCm39) |
R1331* |
probably null |
Het |
| Hsd17b4 |
A |
C |
18: 50,279,591 (GRCm39) |
N190T |
probably damaging |
Het |
| Itprid2 |
T |
C |
2: 79,492,689 (GRCm39) |
S1079P |
probably damaging |
Het |
| Kif14 |
A |
G |
1: 136,396,033 (GRCm39) |
D113G |
probably benign |
Het |
| Kmt2e |
T |
G |
5: 23,702,016 (GRCm39) |
D881E |
probably benign |
Het |
| Lamb1 |
T |
A |
12: 31,373,570 (GRCm39) |
L1481Q |
probably damaging |
Het |
| Limk2 |
T |
C |
11: 3,306,092 (GRCm39) |
|
probably null |
Het |
| Luc7l2 |
T |
A |
6: 38,580,243 (GRCm39) |
S281T |
unknown |
Het |
| Map3k5 |
A |
G |
10: 20,007,891 (GRCm39) |
D1240G |
probably benign |
Het |
| Med13l |
C |
A |
5: 118,885,472 (GRCm39) |
T1475K |
probably benign |
Het |
| Med17 |
G |
T |
9: 15,182,987 (GRCm39) |
Q353K |
probably benign |
Het |
| Mlh3 |
A |
G |
12: 85,314,266 (GRCm39) |
V640A |
probably benign |
Het |
| Mms22l |
T |
A |
4: 24,517,201 (GRCm39) |
Y361N |
probably damaging |
Het |
| Mtmr2 |
T |
A |
9: 13,716,104 (GRCm39) |
N532K |
probably benign |
Het |
| Mtss1 |
G |
A |
15: 58,926,935 (GRCm39) |
T47I |
probably damaging |
Het |
| Mturn |
T |
C |
6: 54,676,545 (GRCm39) |
|
probably null |
Het |
| Muc20 |
A |
C |
16: 32,617,756 (GRCm39) |
S3A |
probably benign |
Het |
| Nde1 |
T |
C |
16: 14,008,128 (GRCm39) |
Y164H |
unknown |
Het |
| Neurl1b |
A |
G |
17: 26,660,132 (GRCm39) |
T451A |
probably benign |
Het |
| Or52u1 |
C |
A |
7: 104,237,505 (GRCm39) |
Q165K |
possibly damaging |
Het |
| Or8g18 |
A |
T |
9: 39,148,885 (GRCm39) |
Y278* |
probably null |
Het |
| Pgap3 |
G |
A |
11: 98,281,610 (GRCm39) |
A196V |
probably benign |
Het |
| Rsf1 |
GGCG |
GGCGACGGCCGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Scart1 |
C |
A |
7: 139,802,299 (GRCm39) |
C209* |
probably null |
Het |
| Sdcbp |
T |
A |
4: 6,385,063 (GRCm39) |
V94E |
possibly damaging |
Het |
| Sgo2a |
T |
G |
1: 58,055,696 (GRCm39) |
F627V |
probably benign |
Het |
| Skor2 |
A |
C |
18: 76,950,339 (GRCm39) |
N889T |
probably benign |
Het |
| Slc35f4 |
A |
T |
14: 49,543,731 (GRCm39) |
N288K |
probably benign |
Het |
| Slc9b2 |
T |
A |
3: 135,035,596 (GRCm39) |
V355E |
probably null |
Het |
| Smarcc2 |
A |
G |
10: 128,317,597 (GRCm39) |
E566G |
possibly damaging |
Het |
| Sorcs2 |
T |
C |
5: 36,200,871 (GRCm39) |
E559G |
probably damaging |
Het |
| Sphkap |
T |
C |
1: 83,256,642 (GRCm39) |
D369G |
probably benign |
Het |
| Stc1 |
T |
A |
14: 69,269,729 (GRCm39) |
I103N |
possibly damaging |
Het |
| Stx8 |
T |
C |
11: 68,094,544 (GRCm39) |
V219A |
probably damaging |
Het |
| Tg |
C |
T |
15: 66,636,158 (GRCm39) |
R582C |
possibly damaging |
Het |
| Tshz2 |
T |
A |
2: 169,727,192 (GRCm39) |
L596Q |
probably benign |
Het |
| Zbtb40 |
A |
G |
4: 136,718,829 (GRCm39) |
I956T |
probably damaging |
Het |
| Zfp990 |
A |
C |
4: 145,263,532 (GRCm39) |
N177H |
possibly damaging |
Het |
|
| Other mutations in Tti1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
R4479:Tti1
|
UTSW |
2 |
157,850,315 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
|
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'- GCAAACTGGCCAATCCCTTC -3'
(R):5'- CTTGTGGATCACTTTATGGAACTG -3'
Sequencing Primer
(F):5'- GGCCAATCCCTTCCAACTGAATG -3'
(R):5'- TGGAACTGTACCATACATCTGTAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation