Incidental Mutation 'R7540:Tti1'
| ID |
583828 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tti1
|
| Ensembl Gene |
ENSMUSG00000027650 |
| Gene Name |
TELO2 interacting protein 1 |
| Synonyms |
2610036D13Rik |
| MMRRC Submission |
045612-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R7540 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
157823723-157870353 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 157849916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 441
(T441I)
|
| 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: T441I
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000029179
Gene: ENSMUSG00000027650
AA Change: T441I
| 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: T441I
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105148
Gene: ENSMUSG00000027650
AA Change: T441I
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930516K23Rik |
T |
C |
7: 103,708,470 (GRCm39) |
E113G |
probably damaging |
Het |
| Adamts8 |
A |
G |
9: 30,870,360 (GRCm39) |
E650G |
probably damaging |
Het |
| Adgrg7 |
G |
A |
16: 56,570,792 (GRCm39) |
T412M |
probably damaging |
Het |
| Ank2 |
C |
T |
3: 126,781,808 (GRCm39) |
V7I |
possibly damaging |
Het |
| Bpifb1 |
G |
A |
2: 154,055,031 (GRCm39) |
V308M |
probably damaging |
Het |
| C3 |
A |
G |
17: 57,513,220 (GRCm39) |
S1476P |
probably benign |
Het |
| Dgkb |
A |
T |
12: 38,031,789 (GRCm39) |
|
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,359,655 (GRCm39) |
|
probably null |
Het |
| Foxb1 |
G |
A |
9: 69,667,141 (GRCm39) |
Q130* |
probably null |
Het |
| Gemin5 |
C |
T |
11: 58,021,228 (GRCm39) |
|
probably null |
Het |
| Ghr |
T |
A |
15: 3,349,396 (GRCm39) |
D594V |
possibly damaging |
Het |
| Gm10272 |
A |
C |
10: 77,542,460 (GRCm39) |
M1L |
unknown |
Het |
| Gpr161 |
G |
A |
1: 165,146,404 (GRCm39) |
V447M |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,268,751 (GRCm39) |
S2157T |
possibly damaging |
Het |
| Irs1 |
A |
G |
1: 82,265,723 (GRCm39) |
V831A |
not run |
Het |
| Itga8 |
T |
A |
2: 12,115,848 (GRCm39) |
I1014L |
possibly damaging |
Het |
| Iws1 |
T |
A |
18: 32,213,536 (GRCm39) |
S321R |
possibly damaging |
Het |
| Kctd19 |
G |
T |
8: 106,113,567 (GRCm39) |
P702Q |
probably benign |
Het |
| Man2c1 |
G |
A |
9: 57,047,559 (GRCm39) |
D739N |
probably damaging |
Het |
| Mboat4 |
T |
A |
8: 34,591,178 (GRCm39) |
L205Q |
probably damaging |
Het |
| Meis3 |
C |
A |
7: 15,911,418 (GRCm39) |
Y38* |
probably null |
Het |
| Mroh7 |
G |
T |
4: 106,577,595 (GRCm39) |
T361K |
possibly damaging |
Het |
| Msantd5f2 |
C |
T |
4: 73,586,648 (GRCm39) |
|
probably benign |
Het |
| Myl6b |
T |
A |
10: 128,332,149 (GRCm39) |
K106* |
probably null |
Het |
| Naaa |
T |
A |
5: 92,411,583 (GRCm39) |
T241S |
probably benign |
Het |
| Neurog3 |
T |
G |
10: 61,969,756 (GRCm39) |
I172S |
probably benign |
Het |
| Nub1 |
T |
G |
5: 24,906,527 (GRCm39) |
I351R |
probably damaging |
Het |
| Or2t47 |
C |
A |
11: 58,442,457 (GRCm39) |
V203L |
possibly damaging |
Het |
| Or3a1c |
A |
T |
11: 74,046,414 (GRCm39) |
R145W |
probably benign |
Het |
| Or6c207 |
A |
T |
10: 129,105,003 (GRCm39) |
F63Y |
probably benign |
Het |
| Osbp2 |
T |
C |
11: 3,667,944 (GRCm39) |
K18E |
probably damaging |
Het |
| Pcdh8 |
A |
T |
14: 80,008,543 (GRCm39) |
W7R |
probably benign |
Het |
| Pcsk7 |
G |
T |
9: 45,838,971 (GRCm39) |
|
probably null |
Het |
| Plin4 |
G |
A |
17: 56,411,883 (GRCm39) |
T716I |
probably damaging |
Het |
| Prkcb |
G |
A |
7: 122,167,357 (GRCm39) |
V356I |
probably damaging |
Het |
| Pus7 |
G |
A |
5: 23,965,244 (GRCm39) |
T304I |
probably damaging |
Het |
| Rmnd1 |
A |
G |
10: 4,353,989 (GRCm39) |
V402A |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,181,346 (GRCm39) |
E329G |
probably damaging |
Het |
| Sytl3 |
T |
C |
17: 6,949,346 (GRCm39) |
|
probably benign |
Het |
| Tg |
A |
G |
15: 66,561,776 (GRCm39) |
I1087V |
probably benign |
Het |
| Tmco1 |
A |
G |
1: 167,153,572 (GRCm39) |
T162A |
|
Het |
| Tubgcp6 |
G |
T |
15: 88,986,526 (GRCm39) |
Q1366K |
possibly damaging |
Het |
| Ush1g |
T |
C |
11: 115,209,399 (GRCm39) |
K265R |
probably benign |
Het |
| Zdhhc8 |
A |
G |
16: 18,045,674 (GRCm39) |
V209A |
probably damaging |
Het |
| Zfp160 |
T |
A |
17: 21,245,922 (GRCm39) |
Y157* |
probably null |
Het |
| Zfp423 |
A |
T |
8: 88,414,695 (GRCm39) |
C1208S |
possibly damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,315,450 (GRCm39) |
V1342E |
probably damaging |
Het |
| Zmym1 |
A |
T |
4: 126,942,550 (GRCm39) |
C613S |
probably benign |
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 |
|
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'- GGTCCCCATAATAACCCAGGAG -3'
(R):5'- AGAGCCTTGGCTGACATCTTG -3'
Sequencing Primer
(F):5'- AGGAGCTGACAGATCTTCCG -3'
(R):5'- TGTCAGAAAGCCTGCATTCACTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation