Incidental Mutation 'R6836:Ttll4'
| ID |
534540 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttll4
|
| Ensembl Gene |
ENSMUSG00000033257 |
| Gene Name |
tubulin tyrosine ligase-like family, member 4 |
| Synonyms |
4632407P03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
R6836 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
74700804-74740991 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 74728572 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 892
(D892E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037406
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042125]
[ENSMUST00000113678]
[ENSMUST00000141119]
|
| AlphaFold |
Q80UG8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042125
AA Change: D892E
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000037406
Gene: ENSMUSG00000033257
AA Change: D892E
| 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: D828E
|
| SMART Domains |
Protein: ENSMUSP00000109308
Gene: ENSMUSG00000033257
AA Change: D828E
| 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: 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: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (62/62) |
| 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 |
|---|
| Adamtsl2 |
T |
C |
2: 26,971,718 (GRCm39) |
M1T |
probably null |
Het |
| Aim2 |
C |
G |
1: 173,291,546 (GRCm39) |
T317R |
probably damaging |
Het |
| Alox8 |
T |
C |
11: 69,077,331 (GRCm39) |
Y473C |
probably damaging |
Het |
| Alox8 |
T |
C |
11: 69,080,715 (GRCm39) |
R209G |
possibly damaging |
Het |
| Asb5 |
A |
G |
8: 55,038,106 (GRCm39) |
M210V |
probably benign |
Het |
| Atp2c2 |
T |
A |
8: 120,461,154 (GRCm39) |
L249Q |
probably damaging |
Het |
| AU018091 |
T |
G |
7: 3,213,986 (GRCm39) |
D77A |
probably damaging |
Het |
| Bahcc1 |
A |
T |
11: 120,162,583 (GRCm39) |
K294* |
probably null |
Het |
| Baz2b |
C |
T |
2: 59,747,769 (GRCm39) |
R1298Q |
probably damaging |
Het |
| Bivm |
T |
A |
1: 44,182,296 (GRCm39) |
N501K |
possibly damaging |
Het |
| Bpifb5 |
T |
A |
2: 154,069,985 (GRCm39) |
I145N |
probably benign |
Het |
| Casq2 |
A |
T |
3: 101,994,076 (GRCm39) |
N41I |
probably damaging |
Het |
| Ccdc18 |
T |
C |
5: 108,345,833 (GRCm39) |
L993P |
probably damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,798,233 (GRCm39) |
I81F |
possibly damaging |
Het |
| Cfap44 |
A |
G |
16: 44,224,442 (GRCm39) |
D50G |
probably damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,512,144 (GRCm39) |
I91F |
probably damaging |
Het |
| Crebbp |
T |
A |
16: 3,997,886 (GRCm39) |
H66L |
possibly damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,163,467 (GRCm39) |
T321A |
probably benign |
Het |
| Dido1 |
A |
G |
2: 180,304,100 (GRCm39) |
V1268A |
probably benign |
Het |
| E030030I06Rik |
A |
C |
10: 22,024,391 (GRCm39) |
V174G |
probably damaging |
Het |
| Gm20730 |
G |
T |
6: 43,058,767 (GRCm39) |
|
probably null |
Het |
| Gm36176 |
T |
C |
10: 77,682,976 (GRCm39) |
|
probably benign |
Het |
| Gper1 |
T |
A |
5: 139,412,435 (GRCm39) |
M260K |
probably damaging |
Het |
| Igfbp2 |
T |
C |
1: 72,888,817 (GRCm39) |
L89P |
probably damaging |
Het |
| Katnal1 |
T |
C |
5: 148,830,974 (GRCm39) |
N200S |
probably damaging |
Het |
| Kcnk13 |
G |
T |
12: 100,027,948 (GRCm39) |
R341L |
probably damaging |
Het |
| Klhl20 |
T |
A |
1: 160,932,976 (GRCm39) |
E277D |
probably benign |
Het |
| Lingo1 |
T |
C |
9: 56,527,056 (GRCm39) |
Y517C |
probably damaging |
Het |
| Lrrk1 |
C |
T |
7: 65,992,527 (GRCm39) |
E82K |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,573,955 (GRCm39) |
V1275D |
possibly damaging |
Het |
| Ncan |
C |
T |
8: 70,552,965 (GRCm39) |
S1089N |
possibly damaging |
Het |
| Notch4 |
C |
T |
17: 34,805,074 (GRCm39) |
T1643I |
probably damaging |
Het |
| Or13a25 |
A |
C |
7: 140,248,093 (GRCm39) |
I298L |
possibly damaging |
Het |
| Or1i2 |
A |
G |
10: 78,448,424 (GRCm39) |
L17P |
probably damaging |
Het |
| Or2y15 |
A |
T |
11: 49,350,904 (GRCm39) |
T133S |
possibly damaging |
Het |
| Or4c10 |
T |
C |
2: 89,760,683 (GRCm39) |
C177R |
probably damaging |
Het |
| Pcdhgb6 |
T |
C |
18: 37,876,015 (GRCm39) |
V241A |
probably benign |
Het |
| Phf11b |
T |
A |
14: 59,565,572 (GRCm39) |
T102S |
possibly damaging |
Het |
| Pkd1 |
T |
A |
17: 24,800,233 (GRCm39) |
V2998E |
probably damaging |
Het |
| Ppp1r13b |
T |
C |
12: 111,801,629 (GRCm39) |
S352G |
probably benign |
Het |
| Ptprh |
C |
T |
7: 4,554,134 (GRCm39) |
V778M |
probably damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,030,664 (GRCm39) |
Q1008* |
probably null |
Het |
| Ralgapa1 |
A |
T |
12: 55,651,058 (GRCm39) |
|
probably null |
Het |
| Rbm20 |
G |
A |
19: 53,802,500 (GRCm39) |
G336E |
probably damaging |
Het |
| Sdsl |
T |
C |
5: 120,600,167 (GRCm39) |
I77V |
probably benign |
Het |
| Serpina3b |
G |
A |
12: 104,100,341 (GRCm39) |
E308K |
probably benign |
Het |
| Sfrp5 |
G |
A |
19: 42,190,149 (GRCm39) |
T101I |
probably damaging |
Het |
| Slc2a13 |
C |
T |
15: 91,205,835 (GRCm39) |
V451I |
probably benign |
Het |
| Slc6a9 |
C |
T |
4: 117,725,083 (GRCm39) |
A559V |
possibly damaging |
Het |
| Spg11 |
C |
T |
2: 121,890,016 (GRCm39) |
A2109T |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,530,324 (GRCm39) |
R2194C |
probably benign |
Het |
| Tfeb |
T |
C |
17: 48,097,123 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
T |
A |
17: 3,464,655 (GRCm39) |
I128N |
probably benign |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tpr |
T |
G |
1: 150,312,424 (GRCm39) |
|
probably null |
Het |
| Traf3ip1 |
T |
C |
1: 91,448,722 (GRCm39) |
I456T |
probably benign |
Het |
| Ubr1 |
T |
A |
2: 120,727,156 (GRCm39) |
|
probably null |
Het |
| Vmn2r74 |
T |
A |
7: 85,606,630 (GRCm39) |
I239F |
probably benign |
Het |
| Wdfy3 |
C |
T |
5: 102,100,865 (GRCm39) |
V251M |
probably damaging |
Het |
| Xylb |
T |
A |
9: 119,220,820 (GRCm39) |
L531H |
probably damaging |
Het |
| Zfp960 |
T |
A |
17: 17,308,434 (GRCm39) |
C383S |
probably 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 |
|
|
R5244:Ttll4
|
UTSW |
1 |
74,735,607 (GRCm39) |
missense |
probably benign |
0.30 |
|
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 |
|
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'- CAGGCACATCCCTTAAGAGC -3'
(R):5'- CAGTGAGTCAGTAAACATGATCATG -3'
Sequencing Primer
(F):5'- ATCCCTTAAGAGCCACAGTTGGG -3'
(R):5'- TCATGAAGGGATGATATATACACCC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation