Incidental Mutation 'R1995:Ttll7'
| ID |
225668 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll7
|
| Ensembl Gene |
ENSMUSG00000036745 |
| Gene Name |
tubulin tyrosine ligase-like family, member 7 |
| Synonyms |
1110049N09Rik, 4921517B04Rik |
| MMRRC Submission |
040005-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.538)
|
| Stock # |
R1995 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
146558122-146689764 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 146667510 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 792
(C792Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037942]
[ENSMUST00000106134]
[ENSMUST00000170055]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037942
AA Change: C812Y
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106134
AA Change: C787Y
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000101740
Gene: ENSMUSG00000036745
AA Change: C787Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
38 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
84 |
388 |
7.2e-80 |
PFAM |
|
low complexity region
|
417 |
439 |
N/A |
INTRINSIC |
|
low complexity region
|
501 |
516 |
N/A |
INTRINSIC |
|
low complexity region
|
549 |
563 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170055
AA Change: C792Y
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000129369
Gene: ENSMUSG00000036745
AA Change: C792Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
38 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
84 |
388 |
5.9e-80 |
PFAM |
|
low complexity region
|
417 |
439 |
N/A |
INTRINSIC |
|
low complexity region
|
501 |
516 |
N/A |
INTRINSIC |
|
low complexity region
|
549 |
563 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197547
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtpbp1 |
T |
G |
13: 59,678,872 (GRCm39) |
K145N |
probably damaging |
Het |
| AY358078 |
T |
A |
14: 52,063,519 (GRCm39) |
D388E |
probably damaging |
Het |
| Btbd9 |
A |
G |
17: 30,493,904 (GRCm39) |
Y496H |
possibly damaging |
Het |
| Catsperb |
T |
A |
12: 101,569,026 (GRCm39) |
N899K |
possibly damaging |
Het |
| Cenpl |
T |
C |
1: 160,905,994 (GRCm39) |
S123P |
probably damaging |
Het |
| Cep120 |
G |
A |
18: 53,873,208 (GRCm39) |
T41I |
probably damaging |
Het |
| Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
| Cnbd1 |
G |
A |
4: 19,055,112 (GRCm39) |
P105S |
possibly damaging |
Het |
| Col6a1 |
T |
C |
10: 76,557,790 (GRCm39) |
N149D |
probably damaging |
Het |
| Ctnna3 |
T |
A |
10: 63,656,143 (GRCm39) |
V241D |
probably damaging |
Het |
| Dcbld2 |
A |
C |
16: 58,276,695 (GRCm39) |
E495D |
probably benign |
Het |
| Dmp1 |
T |
G |
5: 104,357,779 (GRCm39) |
S40A |
possibly damaging |
Het |
| Dpysl4 |
A |
G |
7: 138,676,686 (GRCm39) |
I379V |
probably benign |
Het |
| Eral1 |
C |
T |
11: 77,965,315 (GRCm39) |
G367S |
probably benign |
Het |
| Fah |
C |
T |
7: 84,251,389 (GRCm39) |
R31Q |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,192,293 (GRCm39) |
|
probably null |
Het |
| Fbxo40 |
T |
C |
16: 36,790,231 (GRCm39) |
D293G |
probably damaging |
Het |
| Gemin6 |
A |
C |
17: 80,535,414 (GRCm39) |
T125P |
probably damaging |
Het |
| Gpbar1 |
G |
A |
1: 74,318,603 (GRCm39) |
G282D |
possibly damaging |
Het |
| Gria2 |
G |
A |
3: 80,709,664 (GRCm39) |
L10F |
probably benign |
Het |
| Gucy1b1 |
A |
G |
3: 81,942,160 (GRCm39) |
I533T |
probably damaging |
Het |
| H2-M9 |
A |
T |
17: 36,952,678 (GRCm39) |
Y123N |
probably damaging |
Het |
| Hipk2 |
C |
A |
6: 38,692,909 (GRCm39) |
D868Y |
probably damaging |
Het |
| Itprid1 |
T |
C |
6: 55,945,694 (GRCm39) |
I805T |
probably benign |
Het |
| Jarid2 |
T |
C |
13: 45,027,917 (GRCm39) |
L123P |
probably damaging |
Het |
| Kcnb2 |
C |
A |
1: 15,779,990 (GRCm39) |
N287K |
possibly damaging |
Het |
| Kdm8 |
G |
A |
7: 125,051,511 (GRCm39) |
G35S |
probably benign |
Het |
| Kirrel1 |
G |
T |
3: 87,003,093 (GRCm39) |
A100D |
possibly damaging |
Het |
| Ltbp2 |
T |
G |
12: 84,855,220 (GRCm39) |
|
probably null |
Het |
| Mfsd12 |
C |
A |
10: 81,193,515 (GRCm39) |
H28Q |
probably damaging |
Het |
| Neb |
C |
T |
2: 52,188,744 (GRCm39) |
V837M |
probably damaging |
Het |
| Nkain2 |
A |
G |
10: 32,278,347 (GRCm39) |
I26T |
possibly damaging |
Het |
| Nuggc |
A |
G |
14: 65,848,623 (GRCm39) |
R175G |
probably benign |
Het |
| Or10ag57 |
T |
G |
2: 87,218,175 (GRCm39) |
I42R |
probably damaging |
Het |
| Or5ac23 |
A |
G |
16: 59,149,654 (GRCm39) |
S73P |
probably damaging |
Het |
| Or5d35 |
T |
A |
2: 87,856,016 (GRCm39) |
S317T |
probably benign |
Het |
| Or8g52 |
T |
C |
9: 39,630,709 (GRCm39) |
F62S |
probably damaging |
Het |
| Pcnt |
G |
A |
10: 76,228,633 (GRCm39) |
Q1511* |
probably null |
Het |
| Piezo2 |
G |
T |
18: 63,211,852 (GRCm39) |
T1311K |
probably damaging |
Het |
| Pik3c2a |
T |
C |
7: 115,953,241 (GRCm39) |
Y1218C |
probably damaging |
Het |
| Pik3r4 |
T |
A |
9: 105,546,364 (GRCm39) |
S905T |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,285,867 (GRCm39) |
D1035E |
probably damaging |
Het |
| Pkn3 |
G |
C |
2: 29,979,989 (GRCm39) |
G744A |
probably damaging |
Het |
| Pms1 |
A |
G |
1: 53,234,174 (GRCm39) |
S781P |
probably benign |
Het |
| Pogz |
C |
T |
3: 94,785,255 (GRCm39) |
R793W |
probably damaging |
Het |
| Prrc2a |
A |
T |
17: 35,376,405 (GRCm39) |
V795D |
probably damaging |
Het |
| Rock1 |
G |
A |
18: 10,101,026 (GRCm39) |
R630* |
probably null |
Het |
| Scd4 |
T |
A |
19: 44,322,617 (GRCm39) |
I70N |
possibly damaging |
Het |
| Serpine2 |
A |
G |
1: 79,799,159 (GRCm39) |
S32P |
probably damaging |
Het |
| Slc9c1 |
A |
C |
16: 45,374,618 (GRCm39) |
T328P |
probably damaging |
Het |
| Spata31d1b |
G |
C |
13: 59,864,194 (GRCm39) |
L447F |
probably benign |
Het |
| Speer2 |
A |
G |
16: 69,654,965 (GRCm39) |
S167P |
probably benign |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Tbcel |
C |
A |
9: 42,362,957 (GRCm39) |
G29W |
probably damaging |
Het |
| Tmcc3 |
T |
C |
10: 94,414,468 (GRCm39) |
S57P |
possibly damaging |
Het |
| Tmem240 |
T |
A |
4: 155,824,304 (GRCm39) |
D125E |
possibly damaging |
Het |
| Vmn1r177 |
T |
A |
7: 23,565,112 (GRCm39) |
I255F |
probably damaging |
Het |
| Zp2 |
T |
A |
7: 119,734,388 (GRCm39) |
I554F |
probably damaging |
Het |
|
| Other mutations in Ttll7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01060:Ttll7
|
APN |
3 |
146,615,337 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL01353:Ttll7
|
APN |
3 |
146,667,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01415:Ttll7
|
APN |
3 |
146,615,354 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01843:Ttll7
|
APN |
3 |
146,645,776 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03101:Ttll7
|
APN |
3 |
146,602,445 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03378:Ttll7
|
APN |
3 |
146,615,408 (GRCm39) |
missense |
probably benign |
0.06 |
|
P0038:Ttll7
|
UTSW |
3 |
146,650,939 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0265:Ttll7
|
UTSW |
3 |
146,649,915 (GRCm39) |
nonsense |
probably null |
|
|
R0358:Ttll7
|
UTSW |
3 |
146,649,871 (GRCm39) |
missense |
probably benign |
|
|
R0363:Ttll7
|
UTSW |
3 |
146,649,970 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0364:Ttll7
|
UTSW |
3 |
146,650,936 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0751:Ttll7
|
UTSW |
3 |
146,645,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1184:Ttll7
|
UTSW |
3 |
146,645,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1533:Ttll7
|
UTSW |
3 |
146,602,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1771:Ttll7
|
UTSW |
3 |
146,600,160 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1789:Ttll7
|
UTSW |
3 |
146,621,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1961:Ttll7
|
UTSW |
3 |
146,621,550 (GRCm39) |
splice site |
probably benign |
|
|
R2083:Ttll7
|
UTSW |
3 |
146,635,859 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2152:Ttll7
|
UTSW |
3 |
146,635,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2655:Ttll7
|
UTSW |
3 |
146,653,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2926:Ttll7
|
UTSW |
3 |
146,636,170 (GRCm39) |
nonsense |
probably null |
|
|
R4888:Ttll7
|
UTSW |
3 |
146,599,932 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R4999:Ttll7
|
UTSW |
3 |
146,600,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5648:Ttll7
|
UTSW |
3 |
146,667,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5937:Ttll7
|
UTSW |
3 |
146,649,847 (GRCm39) |
nonsense |
probably null |
|
|
R6009:Ttll7
|
UTSW |
3 |
146,640,290 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6036:Ttll7
|
UTSW |
3 |
146,645,917 (GRCm39) |
missense |
probably benign |
|
|
R6036:Ttll7
|
UTSW |
3 |
146,645,917 (GRCm39) |
missense |
probably benign |
|
|
R6463:Ttll7
|
UTSW |
3 |
146,637,337 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6747:Ttll7
|
UTSW |
3 |
146,649,811 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6922:Ttll7
|
UTSW |
3 |
146,615,369 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7123:Ttll7
|
UTSW |
3 |
146,619,051 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7211:Ttll7
|
UTSW |
3 |
146,619,031 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8229:Ttll7
|
UTSW |
3 |
146,607,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8406:Ttll7
|
UTSW |
3 |
146,645,779 (GRCm39) |
missense |
probably benign |
|
|
R9343:Ttll7
|
UTSW |
3 |
146,667,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9348:Ttll7
|
UTSW |
3 |
146,673,768 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9629:Ttll7
|
UTSW |
3 |
146,621,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF015:Ttll7
|
UTSW |
3 |
146,685,413 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0024:Ttll7
|
UTSW |
3 |
146,615,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Ttll7
|
UTSW |
3 |
146,667,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0027:Ttll7
|
UTSW |
3 |
146,653,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ttll7
|
UTSW |
3 |
146,653,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ttll7
|
UTSW |
3 |
146,635,933 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Ttll7
|
UTSW |
3 |
146,621,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCACATGTGCATGCTGC -3'
(R):5'- TCGTCCAAATCAACTTAGTTGC -3'
Sequencing Primer
(F):5'- GGCAGGAGATGACACTTACCTTTC -3'
(R):5'- CCATTTCCATGGTCTAGCT -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation