Incidental Mutation 'R5244:Ttll4'
| ID |
401025 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll4
|
| Ensembl Gene |
ENSMUSG00000033257 |
| Gene Name |
tubulin tyrosine ligase-like family, member 4 |
| Synonyms |
4632407P03Rik |
| MMRRC Submission |
042815-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.217)
|
| Stock # |
R5244 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
74700804-74740991 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74735607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1005
(V1005A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042125]
[ENSMUST00000113678]
|
| AlphaFold |
Q80UG8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042125
AA Change: V1005A
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000037406
Gene: ENSMUSG00000033257
AA Change: V1005A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
504 |
544 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
645 |
940 |
2.2e-106 |
PFAM |
|
low complexity region
|
942 |
961 |
N/A |
INTRINSIC |
|
low complexity region
|
1103 |
1113 |
N/A |
INTRINSIC |
|
low complexity region
|
1168 |
1182 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000113678
AA Change: V941A
|
| SMART Domains |
Protein: ENSMUSP00000109308
Gene: ENSMUSG00000033257
AA Change: V941A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
504 |
544 |
N/A |
INTRINSIC |
|
Pfam:TTL
|
636 |
876 |
3.4e-82 |
PFAM |
|
low complexity region
|
878 |
897 |
N/A |
INTRINSIC |
|
low complexity region
|
1039 |
1049 |
N/A |
INTRINSIC |
|
low complexity region
|
1104 |
1118 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128891
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143790
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145132
|
| Meta Mutation Damage Score |
0.2081 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
97% (63/65) |
| Allele List at MGI |
All alleles(20) : Targeted, other(2) Gene trapped(18)
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
G |
T |
9: 53,323,098 (GRCm39) |
G45W |
probably damaging |
Het |
| Abca13 |
C |
T |
11: 9,225,081 (GRCm39) |
T520I |
probably benign |
Het |
| Adamtsl3 |
C |
T |
7: 82,247,277 (GRCm39) |
P485L |
probably benign |
Het |
| Bbof1 |
A |
C |
12: 84,476,847 (GRCm39) |
E492A |
possibly damaging |
Het |
| Capn11 |
T |
C |
17: 45,944,818 (GRCm39) |
E483G |
probably damaging |
Het |
| Cbs |
C |
T |
17: 31,836,134 (GRCm39) |
G438D |
probably damaging |
Het |
| Chil6 |
A |
G |
3: 106,297,290 (GRCm39) |
Y284H |
probably damaging |
Het |
| Cops4 |
C |
A |
5: 100,681,241 (GRCm39) |
Q131K |
probably benign |
Het |
| Cul4a |
T |
C |
8: 13,196,566 (GRCm39) |
I740T |
probably damaging |
Het |
| Cyfip1 |
C |
T |
7: 55,574,947 (GRCm39) |
T1066I |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,273,018 (GRCm39) |
L2382P |
probably damaging |
Het |
| Ehd3 |
A |
T |
17: 74,136,995 (GRCm39) |
H388L |
probably benign |
Het |
| Fam13a |
G |
T |
6: 58,930,459 (GRCm39) |
Y484* |
probably null |
Het |
| Gm5117 |
A |
G |
8: 32,228,305 (GRCm39) |
|
noncoding transcript |
Het |
| Gulp1 |
G |
A |
1: 44,827,613 (GRCm39) |
D260N |
probably damaging |
Het |
| Hhipl1 |
T |
A |
12: 108,278,393 (GRCm39) |
N240K |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,259,451 (GRCm39) |
E2474D |
possibly damaging |
Het |
| Ifi207 |
C |
T |
1: 173,557,503 (GRCm39) |
V412I |
probably benign |
Het |
| Ighv9-4 |
T |
C |
12: 114,263,871 (GRCm39) |
I21V |
probably benign |
Het |
| Kcnh1 |
A |
T |
1: 191,907,184 (GRCm39) |
T79S |
probably benign |
Het |
| Kpna6 |
A |
G |
4: 129,549,221 (GRCm39) |
|
probably null |
Het |
| Lnpk |
C |
T |
2: 74,362,232 (GRCm39) |
G262D |
probably damaging |
Het |
| Lsm7 |
T |
C |
10: 80,688,907 (GRCm39) |
E66G |
probably benign |
Het |
| Mbd3l1 |
T |
A |
9: 18,395,933 (GRCm39) |
C19* |
probably null |
Het |
| Mfsd6l |
T |
A |
11: 68,448,001 (GRCm39) |
L284Q |
possibly damaging |
Het |
| Naip5 |
C |
T |
13: 100,382,170 (GRCm39) |
V180I |
probably benign |
Het |
| Or2ag1b |
T |
A |
7: 106,288,396 (GRCm39) |
I181F |
probably benign |
Het |
| Or2j6 |
A |
T |
7: 139,980,051 (GRCm39) |
C303S |
probably benign |
Het |
| Or4k39 |
T |
A |
2: 111,238,899 (GRCm39) |
|
noncoding transcript |
Het |
| Or6d13 |
T |
A |
6: 116,518,187 (GRCm39) |
Y258N |
probably damaging |
Het |
| Or7g22 |
A |
T |
9: 19,049,147 (GRCm39) |
N286I |
probably damaging |
Het |
| Or8g20 |
T |
G |
9: 39,395,808 (GRCm39) |
H247P |
probably damaging |
Het |
| Or8u10 |
C |
G |
2: 85,915,300 (GRCm39) |
A274P |
probably damaging |
Het |
| Pck1 |
T |
A |
2: 172,996,656 (GRCm39) |
I190N |
possibly damaging |
Het |
| Pfkfb3 |
T |
A |
2: 11,489,660 (GRCm39) |
I209F |
probably damaging |
Het |
| Phc1 |
A |
G |
6: 122,298,938 (GRCm39) |
S677P |
probably damaging |
Het |
| Pirb |
G |
A |
7: 3,719,062 (GRCm39) |
A609V |
probably benign |
Het |
| Plag1 |
A |
T |
4: 3,903,887 (GRCm39) |
S435T |
probably benign |
Het |
| Plscr2 |
C |
G |
9: 92,173,102 (GRCm39) |
L215V |
probably benign |
Het |
| Pnma8a |
A |
G |
7: 16,695,248 (GRCm39) |
S368G |
probably damaging |
Het |
| Polr2b |
A |
G |
5: 77,490,847 (GRCm39) |
|
probably benign |
Het |
| Pthlh |
T |
C |
6: 147,158,651 (GRCm39) |
Y103C |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,422,556 (GRCm39) |
V1612A |
possibly damaging |
Het |
| Rprd2 |
T |
A |
3: 95,697,494 (GRCm39) |
I85L |
possibly damaging |
Het |
| Slc27a2 |
T |
C |
2: 126,420,775 (GRCm39) |
V422A |
probably benign |
Het |
| Slc29a1 |
T |
C |
17: 45,899,339 (GRCm39) |
|
probably benign |
Het |
| Slc36a4 |
A |
T |
9: 15,645,574 (GRCm39) |
I334F |
probably benign |
Het |
| Slc4a10 |
T |
A |
2: 62,119,069 (GRCm39) |
S761R |
probably damaging |
Het |
| Spa17 |
T |
A |
9: 37,523,285 (GRCm39) |
M1L |
probably damaging |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Stk19 |
A |
G |
17: 35,051,046 (GRCm39) |
L72P |
probably damaging |
Het |
| Trhde |
T |
C |
10: 114,636,986 (GRCm39) |
M74V |
probably benign |
Het |
| Trim37 |
C |
T |
11: 87,109,083 (GRCm39) |
H937Y |
probably benign |
Het |
| Ttc7b |
A |
G |
12: 100,314,269 (GRCm39) |
L46P |
probably damaging |
Het |
| Ugt2b36 |
T |
C |
5: 87,239,765 (GRCm39) |
T207A |
probably damaging |
Het |
| Unc13c |
C |
T |
9: 73,433,233 (GRCm39) |
|
probably null |
Het |
| Vmn1r221 |
T |
C |
13: 23,401,808 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r101 |
T |
C |
17: 19,831,788 (GRCm39) |
S595P |
probably damaging |
Het |
| Wnt10a |
T |
C |
1: 74,842,454 (GRCm39) |
L310P |
probably damaging |
Het |
| Yif1b |
G |
A |
7: 28,943,866 (GRCm39) |
A115T |
probably damaging |
Het |
| Zfp219 |
C |
A |
14: 52,245,999 (GRCm39) |
R331L |
possibly damaging |
Het |
|
| Other mutations in Ttll4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01606:Ttll4
|
APN |
1 |
74,725,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01743:Ttll4
|
APN |
1 |
74,727,352 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL01914:Ttll4
|
APN |
1 |
74,718,217 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02288:Ttll4
|
APN |
1 |
74,718,560 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02621:Ttll4
|
APN |
1 |
74,726,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02662:Ttll4
|
APN |
1 |
74,726,390 (GRCm39) |
splice site |
probably null |
|
|
IGL02890:Ttll4
|
APN |
1 |
74,726,498 (GRCm39) |
nonsense |
probably null |
|
|
IGL02937:Ttll4
|
APN |
1 |
74,718,662 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03178:Ttll4
|
APN |
1 |
74,719,567 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03412:Ttll4
|
APN |
1 |
74,726,480 (GRCm39) |
missense |
probably benign |
0.28 |
|
1mM(1):Ttll4
|
UTSW |
1 |
74,729,139 (GRCm39) |
missense |
probably null |
1.00 |
|
R0083:Ttll4
|
UTSW |
1 |
74,718,928 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0108:Ttll4
|
UTSW |
1 |
74,718,928 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0135:Ttll4
|
UTSW |
1 |
74,719,087 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0137:Ttll4
|
UTSW |
1 |
74,718,851 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0306:Ttll4
|
UTSW |
1 |
74,735,916 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0506:Ttll4
|
UTSW |
1 |
74,727,777 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0555:Ttll4
|
UTSW |
1 |
74,727,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1617:Ttll4
|
UTSW |
1 |
74,718,560 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1649:Ttll4
|
UTSW |
1 |
74,736,629 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1793:Ttll4
|
UTSW |
1 |
74,726,999 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1898:Ttll4
|
UTSW |
1 |
74,736,641 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1952:Ttll4
|
UTSW |
1 |
74,726,718 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1987:Ttll4
|
UTSW |
1 |
74,724,527 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1989:Ttll4
|
UTSW |
1 |
74,724,527 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2067:Ttll4
|
UTSW |
1 |
74,719,541 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2162:Ttll4
|
UTSW |
1 |
74,725,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2185:Ttll4
|
UTSW |
1 |
74,718,988 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R2875:Ttll4
|
UTSW |
1 |
74,725,597 (GRCm39) |
splice site |
probably null |
|
|
R2876:Ttll4
|
UTSW |
1 |
74,725,597 (GRCm39) |
splice site |
probably null |
|
|
R2895:Ttll4
|
UTSW |
1 |
74,724,517 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2896:Ttll4
|
UTSW |
1 |
74,724,517 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3157:Ttll4
|
UTSW |
1 |
74,736,770 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R3832:Ttll4
|
UTSW |
1 |
74,725,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4707:Ttll4
|
UTSW |
1 |
74,718,166 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4784:Ttll4
|
UTSW |
1 |
74,718,166 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4785:Ttll4
|
UTSW |
1 |
74,718,166 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5176:Ttll4
|
UTSW |
1 |
74,718,445 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5202:Ttll4
|
UTSW |
1 |
74,727,011 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5264:Ttll4
|
UTSW |
1 |
74,725,535 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5452:Ttll4
|
UTSW |
1 |
74,718,480 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5992:Ttll4
|
UTSW |
1 |
74,724,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6111:Ttll4
|
UTSW |
1 |
74,736,698 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6722:Ttll4
|
UTSW |
1 |
74,720,948 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6776:Ttll4
|
UTSW |
1 |
74,720,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6815:Ttll4
|
UTSW |
1 |
74,718,508 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6836:Ttll4
|
UTSW |
1 |
74,728,572 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6963:Ttll4
|
UTSW |
1 |
74,720,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7271:Ttll4
|
UTSW |
1 |
74,727,820 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7508:Ttll4
|
UTSW |
1 |
74,726,418 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7714:Ttll4
|
UTSW |
1 |
74,718,572 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7837:Ttll4
|
UTSW |
1 |
74,720,916 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8032:Ttll4
|
UTSW |
1 |
74,735,632 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8036:Ttll4
|
UTSW |
1 |
74,718,389 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8115:Ttll4
|
UTSW |
1 |
74,726,489 (GRCm39) |
nonsense |
probably null |
|
|
R8949:Ttll4
|
UTSW |
1 |
74,720,975 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9145:Ttll4
|
UTSW |
1 |
74,718,949 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9156:Ttll4
|
UTSW |
1 |
74,719,225 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9329:Ttll4
|
UTSW |
1 |
74,725,121 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9701:Ttll4
|
UTSW |
1 |
74,720,482 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9802:Ttll4
|
UTSW |
1 |
74,720,482 (GRCm39) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTGTATACATCATCAGGTGTCG -3'
(R):5'- TAACTATGGCCTCCTGTGGG -3'
Sequencing Primer
(F):5'- ATCAGGTGTCGTTTGTAGTCCCAC -3'
(R):5'- GACAGGCATATCACCTTTGAGCTTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation