Incidental Mutation 'R9145:Ttll4'
| ID |
694533 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll4
|
| Ensembl Gene |
ENSMUSG00000033257 |
| Gene Name |
tubulin tyrosine ligase-like family, member 4 |
| Synonyms |
4632407P03Rik |
| MMRRC Submission |
|
| Accession Numbers |
Genbank: NM_001014974.1; Ensembl: ENSMUST00000042125
|
| Essential gene? |
Possibly non essential
(E-score: 0.368)
|
| Stock # |
R9145 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
74661745-74703730 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74679790 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 267
(K267E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042125]
[ENSMUST00000113678]
[ENSMUST00000129890]
[ENSMUST00000141119]
|
| AlphaFold |
Q80UG8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042125
AA Change: K267E
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000037406
Gene: ENSMUSG00000033257
AA Change: K267E
| 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 |
probably damaging
Transcript: ENSMUST00000113678
AA Change: K267E
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109308
Gene: ENSMUSG00000033257
AA Change: K267E
| 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 |
probably benign
Transcript: ENSMUST00000129890
|
| SMART Domains |
Protein: ENSMUSP00000119964
Gene: ENSMUSG00000033257
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
69 |
101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141119
|
| SMART Domains |
Protein: ENSMUSP00000116733
Gene: ENSMUSG00000033257
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
56 |
96 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (79/79) |
| Allele List at MGI |
All alleles(20) : Targeted, other(2) Gene trapped(18)
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
A |
6: 128,559,069 (GRCm38) |
H720L |
probably benign |
Het |
| Abca15 |
T |
C |
7: 120,388,165 (GRCm38) |
Y1225H |
probably benign |
Het |
| Adck1 |
C |
A |
12: 88,368,423 (GRCm38) |
N26K |
probably benign |
Het |
| Adcy3 |
A |
G |
12: 4,195,208 (GRCm38) |
D382G |
probably damaging |
Het |
| Ahi1 |
T |
A |
10: 21,000,589 (GRCm38) |
C800S |
probably benign |
Het |
| Ahnak |
G |
T |
19: 9,014,923 (GRCm38) |
V4524L |
probably benign |
Het |
| Apol11a |
C |
T |
15: 77,513,578 (GRCm38) |
A43V |
probably benign |
Het |
| Arid1a |
T |
C |
4: 133,693,903 (GRCm38) |
M479V |
unknown |
Het |
| Atp13a2 |
T |
A |
4: 140,996,745 (GRCm38) |
C324S |
probably damaging |
Het |
| C2cd2 |
T |
G |
16: 97,876,286 (GRCm38) |
T413P |
probably damaging |
Het |
| Cct5 |
A |
C |
15: 31,590,961 (GRCm38) |
D531E |
|
Het |
| Chst1 |
A |
T |
2: 92,614,178 (GRCm38) |
I332F |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,620,062 (GRCm38) |
V2662D |
probably benign |
Het |
| Cts3 |
A |
G |
13: 61,564,986 (GRCm38) |
Y307H |
probably benign |
Het |
| D630023F18Rik |
G |
A |
1: 65,121,212 (GRCm38) |
|
probably benign |
Het |
| Dhx9 |
A |
G |
1: 153,461,080 (GRCm38) |
I807T |
probably damaging |
Het |
| Doxl2 |
C |
A |
6: 48,975,956 (GRCm38) |
R272S |
probably benign |
Het |
| Exoc3l4 |
T |
C |
12: 111,422,152 (GRCm38) |
L25P |
probably benign |
Het |
| Ggcx |
T |
A |
6: 72,425,922 (GRCm38) |
C288S |
probably benign |
Het |
| Gjb3 |
A |
G |
4: 127,326,347 (GRCm38) |
Y131H |
probably damaging |
Het |
| Hdhd3 |
A |
G |
4: 62,499,337 (GRCm38) |
S201P |
probably benign |
Het |
| Helz2 |
A |
T |
2: 181,240,055 (GRCm38) |
V315E |
probably damaging |
Het |
| Hsp90aa1 |
A |
G |
12: 110,696,250 (GRCm38) |
|
probably null |
Het |
| Il12a |
C |
T |
3: 68,691,542 (GRCm38) |
R19W |
unknown |
Het |
| Isoc1 |
C |
T |
18: 58,673,275 (GRCm38) |
A219V |
possibly damaging |
Het |
| Jup |
T |
A |
11: 100,378,298 (GRCm38) |
T430S |
probably benign |
Het |
| Klra5 |
C |
T |
6: 129,909,948 (GRCm38) |
C39Y |
probably benign |
Het |
| Map4 |
A |
T |
9: 110,026,200 (GRCm38) |
Q131L |
probably damaging |
Het |
| Mau2 |
T |
A |
8: 70,027,515 (GRCm38) |
K314M |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,964,012 (GRCm38) |
M2726V |
probably benign |
Het |
| Mgme1 |
G |
A |
2: 144,272,485 (GRCm38) |
|
probably null |
Het |
| Msrb2 |
A |
G |
2: 19,394,255 (GRCm38) |
E143G |
probably benign |
Het |
| Muc5b |
G |
T |
7: 141,857,613 (GRCm38) |
C1432F |
unknown |
Het |
| Naglu |
T |
C |
11: 101,071,114 (GRCm38) |
Y138H |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,294,509 (GRCm38) |
R163C |
possibly damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,218,367 (GRCm38) |
Y103H |
probably benign |
Het |
| Nodal |
A |
G |
10: 61,423,680 (GRCm38) |
N299D |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,459,575 (GRCm38) |
T2518A |
probably benign |
Het |
| Nr2e1 |
A |
C |
10: 42,572,952 (GRCm38) |
S97A |
probably benign |
Het |
| Nuak1 |
A |
T |
10: 84,374,723 (GRCm38) |
S500R |
probably benign |
Het |
| Nxt2 |
C |
T |
X: 142,237,751 (GRCm38) |
A118V |
possibly damaging |
Het |
| Nyap1 |
T |
C |
5: 137,737,913 (GRCm38) |
E104G |
probably benign |
Het |
| Olfr401 |
C |
T |
11: 74,121,700 (GRCm38) |
T137I |
probably benign |
Het |
| Olfr670 |
T |
A |
7: 104,959,997 (GRCm38) |
H245L |
probably damaging |
Het |
| Palld |
T |
C |
8: 61,877,073 (GRCm38) |
T257A |
probably benign |
Het |
| Pcnx4 |
C |
T |
12: 72,556,269 (GRCm38) |
P435L |
probably damaging |
Het |
| Piezo1 |
T |
C |
8: 122,482,014 (GRCm38) |
T2538A |
unknown |
Het |
| Plagl1 |
T |
C |
10: 13,128,128 (GRCm38) |
L380P |
unknown |
Het |
| Polrmt |
G |
T |
10: 79,740,581 (GRCm38) |
Q514K |
probably benign |
Het |
| Psg17 |
T |
G |
7: 18,819,926 (GRCm38) |
D133A |
probably benign |
Het |
| Rab3b |
G |
A |
4: 108,940,706 (GRCm38) |
D185N |
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,455,914 (GRCm38) |
S248T |
probably benign |
Het |
| Rdh10 |
C |
A |
1: 16,129,206 (GRCm38) |
A212D |
probably damaging |
Het |
| Rinl |
A |
G |
7: 28,795,664 (GRCm38) |
H154R |
|
Het |
| Selenbp1 |
T |
C |
3: 94,944,103 (GRCm38) |
M389T |
probably benign |
Het |
| Serpina1c |
T |
A |
12: 103,896,141 (GRCm38) |
H305L |
possibly damaging |
Het |
| Sh3rf2 |
T |
A |
18: 42,149,681 (GRCm38) |
S467T |
|
Het |
| Sipa1l1 |
A |
G |
12: 82,396,561 (GRCm38) |
D875G |
probably benign |
Het |
| Slc10a6 |
A |
T |
5: 103,628,934 (GRCm38) |
V100D |
probably damaging |
Het |
| Slc13a4 |
T |
C |
6: 35,270,355 (GRCm38) |
I577V |
possibly damaging |
Het |
| Slc20a2 |
T |
C |
8: 22,540,431 (GRCm38) |
F168L |
probably benign |
Het |
| Slc25a1 |
A |
T |
16: 17,927,244 (GRCm38) |
|
probably null |
Het |
| Slc5a12 |
A |
G |
2: 110,640,897 (GRCm38) |
S495G |
probably benign |
Het |
| Smpdl3a |
A |
G |
10: 57,800,932 (GRCm38) |
D42G |
possibly damaging |
Het |
| Spag16 |
G |
C |
1: 70,381,300 (GRCm38) |
L482F |
probably damaging |
Het |
| Susd5 |
G |
A |
9: 114,096,221 (GRCm38) |
G391R |
probably damaging |
Het |
| Sync |
G |
T |
4: 129,293,825 (GRCm38) |
A217S |
|
Het |
| Tha1 |
T |
A |
11: 117,868,686 (GRCm38) |
N326Y |
probably damaging |
Het |
| Tjp1 |
A |
T |
7: 65,302,816 (GRCm38) |
F1590Y |
probably benign |
Het |
| Tle4 |
T |
C |
19: 14,468,219 (GRCm38) |
N221S |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,536,024 (GRCm38) |
T2054A |
probably damaging |
Het |
| Ttc30a1 |
A |
T |
2: 75,980,079 (GRCm38) |
Y553* |
probably null |
Het |
| Usp32 |
C |
T |
11: 85,022,292 (GRCm38) |
G930D |
probably damaging |
Het |
| Vmn2r75 |
T |
C |
7: 86,164,239 (GRCm38) |
N452D |
probably damaging |
Het |
| Vmn2r81 |
T |
C |
10: 79,268,194 (GRCm38) |
L217P |
possibly damaging |
Het |
| Wnt2 |
T |
A |
6: 18,030,398 (GRCm38) |
|
probably benign |
Het |
| Zfp459 |
C |
T |
13: 67,408,616 (GRCm38) |
S116N |
probably benign |
Het |
| Zfp981 |
C |
A |
4: 146,537,953 (GRCm38) |
T445N |
possibly damaging |
Het |
|
| Other mutations in Ttll4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01606:Ttll4
|
APN |
1 |
74,685,893 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01743:Ttll4
|
APN |
1 |
74,688,193 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
IGL01914:Ttll4
|
APN |
1 |
74,679,058 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL02288:Ttll4
|
APN |
1 |
74,679,401 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL02621:Ttll4
|
APN |
1 |
74,687,484 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02662:Ttll4
|
APN |
1 |
74,687,231 (GRCm38) |
splice site |
probably null |
|
|
IGL02890:Ttll4
|
APN |
1 |
74,687,339 (GRCm38) |
nonsense |
probably null |
|
|
IGL02937:Ttll4
|
APN |
1 |
74,679,503 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL03178:Ttll4
|
APN |
1 |
74,680,408 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL03412:Ttll4
|
APN |
1 |
74,687,321 (GRCm38) |
missense |
probably benign |
0.28 |
|
1mM(1):Ttll4
|
UTSW |
1 |
74,689,980 (GRCm38) |
missense |
probably null |
1.00 |
|
R0083:Ttll4
|
UTSW |
1 |
74,679,769 (GRCm38) |
missense |
probably benign |
0.13 |
|
R0108:Ttll4
|
UTSW |
1 |
74,679,769 (GRCm38) |
missense |
probably benign |
0.13 |
|
R0135:Ttll4
|
UTSW |
1 |
74,679,928 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R0137:Ttll4
|
UTSW |
1 |
74,679,692 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
R0306:Ttll4
|
UTSW |
1 |
74,696,757 (GRCm38) |
missense |
probably benign |
0.28 |
|
R0506:Ttll4
|
UTSW |
1 |
74,688,618 (GRCm38) |
missense |
probably benign |
0.06 |
|
R0555:Ttll4
|
UTSW |
1 |
74,688,280 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1617:Ttll4
|
UTSW |
1 |
74,679,401 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1649:Ttll4
|
UTSW |
1 |
74,697,470 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R1793:Ttll4
|
UTSW |
1 |
74,687,840 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1898:Ttll4
|
UTSW |
1 |
74,697,482 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1952:Ttll4
|
UTSW |
1 |
74,687,559 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1987:Ttll4
|
UTSW |
1 |
74,685,368 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R1989:Ttll4
|
UTSW |
1 |
74,685,368 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R2067:Ttll4
|
UTSW |
1 |
74,680,382 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R2162:Ttll4
|
UTSW |
1 |
74,686,391 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2185:Ttll4
|
UTSW |
1 |
74,679,829 (GRCm38) |
missense |
possibly damaging |
0.54 |
|
R2875:Ttll4
|
UTSW |
1 |
74,686,438 (GRCm38) |
splice site |
probably null |
|
|
R2876:Ttll4
|
UTSW |
1 |
74,686,438 (GRCm38) |
splice site |
probably null |
|
|
R2895:Ttll4
|
UTSW |
1 |
74,685,358 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R2896:Ttll4
|
UTSW |
1 |
74,685,358 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R3157:Ttll4
|
UTSW |
1 |
74,697,611 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R3832:Ttll4
|
UTSW |
1 |
74,686,391 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4707:Ttll4
|
UTSW |
1 |
74,679,007 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R4784:Ttll4
|
UTSW |
1 |
74,679,007 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R4785:Ttll4
|
UTSW |
1 |
74,679,007 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R5176:Ttll4
|
UTSW |
1 |
74,679,286 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5202:Ttll4
|
UTSW |
1 |
74,687,852 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5244:Ttll4
|
UTSW |
1 |
74,696,448 (GRCm38) |
missense |
probably benign |
0.30 |
|
R5264:Ttll4
|
UTSW |
1 |
74,686,376 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5452:Ttll4
|
UTSW |
1 |
74,679,321 (GRCm38) |
missense |
probably benign |
0.06 |
|
R5992:Ttll4
|
UTSW |
1 |
74,685,391 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6111:Ttll4
|
UTSW |
1 |
74,697,539 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6722:Ttll4
|
UTSW |
1 |
74,681,789 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6776:Ttll4
|
UTSW |
1 |
74,681,353 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6815:Ttll4
|
UTSW |
1 |
74,679,349 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6836:Ttll4
|
UTSW |
1 |
74,689,413 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6963:Ttll4
|
UTSW |
1 |
74,681,816 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7271:Ttll4
|
UTSW |
1 |
74,688,661 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R7508:Ttll4
|
UTSW |
1 |
74,687,259 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R7714:Ttll4
|
UTSW |
1 |
74,679,413 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7837:Ttll4
|
UTSW |
1 |
74,681,757 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R8032:Ttll4
|
UTSW |
1 |
74,696,473 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R8036:Ttll4
|
UTSW |
1 |
74,679,230 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8115:Ttll4
|
UTSW |
1 |
74,687,330 (GRCm38) |
nonsense |
probably null |
|
|
R8949:Ttll4
|
UTSW |
1 |
74,681,816 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9156:Ttll4
|
UTSW |
1 |
74,680,066 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9329:Ttll4
|
UTSW |
1 |
74,685,962 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9701:Ttll4
|
UTSW |
1 |
74,681,323 (GRCm38) |
missense |
probably benign |
0.07 |
|
R9802:Ttll4
|
UTSW |
1 |
74,681,323 (GRCm38) |
missense |
probably benign |
0.07 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATTGCATCTCCACTGTCC -3'
(R):5'- CTCACAGCCTCAGTGAAGTG -3'
Sequencing Primer
(F):5'- AGATTGCATCTCCACTGTCCTATAAG -3'
(R):5'- AGCCTCAGTGAAGTGTACCTC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation