Incidental Mutation 'R9725:Tti1'
| ID |
730974 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tti1
|
| Ensembl Gene |
ENSMUSG00000027650 |
| Gene Name |
TELO2 interacting protein 1 |
| Synonyms |
2610036D13Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R9725 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
157823723-157870353 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 157849304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 645
(R645H)
|
| 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: R645H
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000029179
Gene: ENSMUSG00000027650
AA Change: R645H
| 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: R645H
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000105148
Gene: ENSMUSG00000027650
AA Change: R645H
| 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: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
G |
16: 14,290,797 (GRCm39) |
I1469S |
possibly damaging |
Het |
| Aff1 |
A |
T |
5: 103,994,931 (GRCm39) |
D1043V |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,991,607 (GRCm39) |
I4297N |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,981,533 (GRCm39) |
N939S |
probably benign |
Het |
| Camk2b |
T |
C |
11: 5,922,634 (GRCm39) |
N465S |
possibly damaging |
Het |
| Carns1 |
A |
G |
19: 4,216,548 (GRCm39) |
S545P |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,432,561 (GRCm39) |
Q121L |
probably benign |
Het |
| Cfap221 |
G |
T |
1: 119,862,352 (GRCm39) |
Q577K |
probably benign |
Het |
| Dlg1 |
T |
G |
16: 31,665,683 (GRCm39) |
L680R |
probably benign |
Het |
| Fahd2a |
T |
C |
2: 127,278,304 (GRCm39) |
E301G |
probably benign |
Het |
| Fn3k |
T |
A |
11: 121,341,191 (GRCm39) |
L282H |
probably damaging |
Het |
| Fubp1 |
T |
A |
3: 151,927,823 (GRCm39) |
I424N |
probably damaging |
Het |
| Gkn1 |
A |
G |
6: 87,323,289 (GRCm39) |
S175P |
probably damaging |
Het |
| Gm12695 |
A |
G |
4: 96,616,466 (GRCm39) |
S456P |
probably damaging |
Het |
| Kcna5 |
T |
C |
6: 126,511,844 (GRCm39) |
T95A |
probably benign |
Het |
| Kcnj13 |
G |
T |
1: 87,314,737 (GRCm39) |
T83K |
probably benign |
Het |
| Kif19b |
G |
A |
5: 140,460,651 (GRCm39) |
R439H |
probably benign |
Het |
| Klra10 |
C |
T |
6: 130,252,849 (GRCm39) |
G142R |
probably benign |
Het |
| Krt14 |
T |
C |
11: 100,097,902 (GRCm39) |
N127S |
probably damaging |
Het |
| Layn |
T |
C |
9: 50,968,775 (GRCm39) |
M323V |
probably benign |
Het |
| Lrrd1 |
A |
G |
5: 3,901,147 (GRCm39) |
D484G |
probably benign |
Het |
| Lrrtm2 |
A |
G |
18: 35,345,788 (GRCm39) |
C505R |
probably damaging |
Het |
| Ms4a14 |
A |
T |
19: 11,280,729 (GRCm39) |
S610T |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,856,841 (GRCm39) |
N1282S |
probably benign |
Het |
| Naip5 |
A |
T |
13: 100,358,784 (GRCm39) |
D817E |
possibly damaging |
Het |
| Ndufs2 |
A |
G |
1: 171,074,629 (GRCm39) |
L10P |
possibly damaging |
Het |
| Nxn |
T |
C |
11: 76,169,362 (GRCm39) |
D139G |
probably damaging |
Het |
| Or3a1b |
A |
G |
11: 74,012,612 (GRCm39) |
T166A |
probably benign |
Het |
| Or5b105 |
G |
A |
19: 13,080,272 (GRCm39) |
T132I |
possibly damaging |
Het |
| Or6aa1 |
A |
C |
7: 86,043,973 (GRCm39) |
H244Q |
probably damaging |
Het |
| Pcdhb22 |
G |
T |
18: 37,652,794 (GRCm39) |
V164F |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,084,992 (GRCm39) |
T417A |
probably damaging |
Het |
| Prcp |
G |
T |
7: 92,567,035 (GRCm39) |
|
probably null |
Het |
| Rasgrp2 |
A |
G |
19: 6,454,694 (GRCm39) |
Y178C |
probably damaging |
Het |
| Rasgrp2 |
A |
G |
19: 6,463,907 (GRCm39) |
N535S |
probably benign |
Het |
| Rgs20 |
G |
T |
1: 4,980,793 (GRCm39) |
Y208* |
probably null |
Het |
| Slc39a10 |
A |
G |
1: 46,849,223 (GRCm39) |
C798R |
probably damaging |
Het |
| Slco2b1 |
A |
G |
7: 99,335,265 (GRCm39) |
S172P |
probably benign |
Het |
| Styk1 |
GTCTCTTCATGATT |
GT |
6: 131,278,610 (GRCm39) |
|
probably benign |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Tmc2 |
T |
A |
2: 130,089,881 (GRCm39) |
I622N |
probably damaging |
Het |
| Trav16n |
A |
G |
14: 53,588,559 (GRCm39) |
S5G |
probably benign |
Het |
| Ttll3 |
A |
G |
6: 113,386,114 (GRCm39) |
D649G |
probably damaging |
Het |
| Vcam1 |
C |
T |
3: 115,922,287 (GRCm39) |
V79I |
possibly damaging |
Het |
| Vmn1r211 |
T |
C |
13: 23,036,506 (GRCm39) |
I54V |
probably benign |
Het |
| Vmn1r238 |
A |
G |
18: 3,122,577 (GRCm39) |
F279S |
probably benign |
Het |
| Vps33a |
A |
T |
5: 123,669,135 (GRCm39) |
W589R |
possibly damaging |
Het |
| Zic1 |
A |
G |
9: 91,246,875 (GRCm39) |
S66P |
probably 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 |
|
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 |
|
Z1176:Tti1
|
UTSW |
2 |
157,824,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGGAAGTAGGCTGGCATCC -3'
(R):5'- ACCTGTTTTGAAGCTGAGGAG -3'
Sequencing Primer
(F):5'- ATCCGCGTTCCGAAGCATG -3'
(R):5'- TGATGATGAAGCAGCAAGGC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation