Incidental Mutation 'R6639:Tuft1'
| ID |
525642 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tuft1
|
| Ensembl Gene |
ENSMUSG00000005968 |
| Gene Name |
tuftelin 1 |
| Synonyms |
|
| MMRRC Submission |
044760-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6639 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
94520064-94566179 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94539930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 93
(M93V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006123]
[ENSMUST00000196496]
[ENSMUST00000196655]
[ENSMUST00000196733]
[ENSMUST00000200407]
|
| AlphaFold |
O08970 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006123
AA Change: M152V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000006123
Gene: ENSMUSG00000005968
AA Change: M152V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
88 |
125 |
N/A |
INTRINSIC |
|
coiled coil region
|
164 |
347 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196496
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196655
AA Change: M97V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142537
Gene: ENSMUSG00000005968
AA Change: M97V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
109 |
292 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196733
AA Change: M127V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000143278
Gene: ENSMUSG00000005968
AA Change: M127V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
63 |
100 |
N/A |
INTRINSIC |
|
coiled coil region
|
139 |
322 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200407
AA Change: M93V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000143473
Gene: ENSMUSG00000005968
AA Change: M93V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
29 |
66 |
N/A |
INTRINSIC |
|
coiled coil region
|
105 |
174 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.1%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
FUNCTION: Tuftelin is an acidic protein that is thought to play a role in dental enamel mineralization and is implicated in caries susceptibility. It is also thought to be involved with adaptation to hypoxia, mesenchymal stem cell function, and neurotrophin nerve growth factor mediated neuronal differentiation. [provided by RefSeq, Aug 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
T |
G |
10: 10,311,700 (GRCm39) |
I238L |
possibly damaging |
Het |
| Ankrd33b |
T |
C |
15: 31,297,818 (GRCm39) |
Y313C |
probably damaging |
Het |
| Capn15 |
C |
T |
17: 26,179,152 (GRCm39) |
V940I |
probably benign |
Het |
| Cdh3 |
G |
C |
8: 107,237,973 (GRCm39) |
V56L |
probably benign |
Het |
| Cfap20dc |
A |
G |
14: 8,536,530 (GRCm38) |
S226P |
probably benign |
Het |
| Cfap57 |
T |
C |
4: 118,411,909 (GRCm39) |
E1245G |
probably benign |
Het |
| Depdc7 |
C |
T |
2: 104,555,098 (GRCm39) |
D271N |
probably damaging |
Het |
| Dmtn |
T |
C |
14: 70,854,870 (GRCm39) |
D10G |
probably damaging |
Het |
| Dusp12 |
T |
C |
1: 170,708,243 (GRCm39) |
E158G |
probably damaging |
Het |
| Egf |
C |
T |
3: 129,530,481 (GRCm39) |
G227D |
probably benign |
Het |
| Epha1 |
C |
A |
6: 42,342,869 (GRCm39) |
E227* |
probably null |
Het |
| Fbxo40 |
A |
T |
16: 36,790,937 (GRCm39) |
C58S |
probably damaging |
Het |
| Focad |
A |
G |
4: 88,196,479 (GRCm39) |
T611A |
unknown |
Het |
| Fpr-rs4 |
C |
T |
17: 18,242,394 (GRCm39) |
Q134* |
probably null |
Het |
| Fsip2 |
G |
A |
2: 82,813,571 (GRCm39) |
D3297N |
possibly damaging |
Het |
| Garnl3 |
T |
C |
2: 32,879,537 (GRCm39) |
R930G |
possibly damaging |
Het |
| Hdac4 |
A |
T |
1: 91,898,670 (GRCm39) |
C695S |
probably damaging |
Het |
| Ier2 |
G |
A |
8: 85,388,791 (GRCm39) |
T197M |
probably benign |
Het |
| Ift74 |
T |
A |
4: 94,552,496 (GRCm39) |
|
probably benign |
Het |
| Kat6b |
A |
G |
14: 21,567,562 (GRCm39) |
D207G |
possibly damaging |
Het |
| Khdrbs2 |
A |
T |
1: 32,506,943 (GRCm39) |
R196* |
probably null |
Het |
| Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
| Nrip1 |
G |
A |
16: 76,090,883 (GRCm39) |
Q225* |
probably null |
Het |
| Or14j3 |
A |
G |
17: 37,900,822 (GRCm39) |
C141R |
probably damaging |
Het |
| Or1n2 |
G |
A |
2: 36,797,690 (GRCm39) |
C244Y |
probably damaging |
Het |
| Pdrg1 |
T |
C |
2: 152,857,191 (GRCm39) |
E17G |
probably damaging |
Het |
| R3hdm1 |
GAA |
GAAA |
1: 128,090,548 (GRCm39) |
|
probably null |
Het |
| Rnf17 |
C |
T |
14: 56,676,200 (GRCm39) |
P354S |
probably benign |
Het |
| Sh3rf3 |
T |
A |
10: 58,919,289 (GRCm39) |
Y469N |
probably damaging |
Het |
| Thoc6 |
T |
A |
17: 23,889,428 (GRCm39) |
|
probably null |
Het |
| Tpm3 |
C |
G |
3: 89,987,109 (GRCm39) |
A24G |
probably damaging |
Het |
| Vmn1r22 |
T |
C |
6: 57,877,699 (GRCm39) |
I93V |
probably benign |
Het |
| Zfp383 |
T |
C |
7: 29,614,152 (GRCm39) |
S136P |
probably benign |
Het |
| Zfp748 |
T |
C |
13: 67,691,024 (GRCm39) |
K79E |
probably damaging |
Het |
|
| Other mutations in Tuft1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00655:Tuft1
|
APN |
3 |
94,530,091 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL00816:Tuft1
|
APN |
3 |
94,523,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01339:Tuft1
|
APN |
3 |
94,535,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01364:Tuft1
|
APN |
3 |
94,542,810 (GRCm39) |
splice site |
probably benign |
|
|
IGL02012:Tuft1
|
APN |
3 |
94,529,462 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02332:Tuft1
|
APN |
3 |
94,523,075 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02400:Tuft1
|
APN |
3 |
94,542,809 (GRCm39) |
splice site |
probably benign |
|
|
IGL03155:Tuft1
|
APN |
3 |
94,541,821 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4246:Tuft1
|
UTSW |
3 |
94,522,108 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4911:Tuft1
|
UTSW |
3 |
94,542,750 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5261:Tuft1
|
UTSW |
3 |
94,546,712 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6622:Tuft1
|
UTSW |
3 |
94,542,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6790:Tuft1
|
UTSW |
3 |
94,535,537 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6986:Tuft1
|
UTSW |
3 |
94,521,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7944:Tuft1
|
UTSW |
3 |
94,539,909 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8008:Tuft1
|
UTSW |
3 |
94,521,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8200:Tuft1
|
UTSW |
3 |
94,523,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8546:Tuft1
|
UTSW |
3 |
94,529,420 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9232:Tuft1
|
UTSW |
3 |
94,529,445 (GRCm39) |
missense |
probably benign |
0.06 |
|
X0022:Tuft1
|
UTSW |
3 |
94,542,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGATGCTGTAGGAGGACC -3'
(R):5'- TTTGCATGTGAACCAGCAC -3'
Sequencing Primer
(F):5'- CCAACAGTCGTTGCTTCT -3'
(R):5'- TCAAGGGACAACTTGTGGGAGTTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation