Incidental Mutation 'R2423:Tapt1'
| ID |
249430 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tapt1
|
| Ensembl Gene |
ENSMUSG00000046985 |
| Gene Name |
transmembrane anterior posterior transformation 1 |
| Synonyms |
4932414K18Rik |
| MMRRC Submission |
040385-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.781)
|
| Stock # |
R2423 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
44332496-44383968 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44349795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 251
(I251V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062110
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055128]
[ENSMUST00000199374]
|
| AlphaFold |
Q4VBD2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055128
AA Change: I251V
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000062110
Gene: ENSMUSG00000046985
AA Change: I251V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
62 |
N/A |
INTRINSIC |
|
transmembrane domain
|
119 |
141 |
N/A |
INTRINSIC |
|
Pfam:DUF747
|
152 |
456 |
8.9e-112 |
PFAM |
|
low complexity region
|
473 |
489 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197266
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198348
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198391
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199265
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199374
|
| SMART Domains |
Protein: ENSMUSP00000143625
Gene: ENSMUSG00000046985
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
43 |
N/A |
INTRINSIC |
|
low complexity region
|
54 |
62 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a highly conserved protein that localizes to the centrosome and/or ciliary basal body. Mutations in this gene disrupt Golgi morphology and trafficking and normal primary cilium formation and these mutations are congenitally manifested by severe undermineralization of the intra-uterine skeleton. A mutation in the mouse ortholog of this gene results in homeotic, posterior-to-anterior transformations of the axial skeleton which are similar to the phenotype of mouse homeobox C8 gene mutants. In mouse, this gene is thought to function downstream of homeobox C8 to transduce extracellular patterning information during axial skeleton development. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for an ENU mutation causing a truncation exhibit vertebral trasnformations and defects in rib attachment and the xiphoid process. Mice homozygous for a transgenic gene disruption exhibit cleft palate and possible anemia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amer2 |
T |
C |
14: 60,616,656 (GRCm39) |
S284P |
possibly damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,462,532 (GRCm39) |
V614A |
probably benign |
Het |
| Arhgap9 |
A |
T |
10: 127,162,993 (GRCm39) |
|
probably null |
Het |
| Brf1 |
G |
A |
12: 112,963,819 (GRCm39) |
A53V |
probably benign |
Het |
| Cyp1a2 |
C |
T |
9: 57,587,232 (GRCm39) |
R353Q |
probably damaging |
Het |
| Deup1 |
G |
T |
9: 15,503,754 (GRCm39) |
S269* |
probably null |
Het |
| F11r |
T |
A |
1: 171,289,191 (GRCm39) |
Y218N |
possibly damaging |
Het |
| Gjd4 |
G |
T |
18: 9,280,811 (GRCm39) |
S89* |
probably null |
Het |
| Mapkbp1 |
A |
T |
2: 119,855,071 (GRCm39) |
E1430V |
probably benign |
Het |
| Mga |
A |
G |
2: 119,795,274 (GRCm39) |
K2986R |
probably damaging |
Het |
| Myo9b |
G |
T |
8: 71,780,584 (GRCm39) |
V494L |
probably damaging |
Het |
| Nbea |
G |
A |
3: 55,992,727 (GRCm39) |
T293I |
probably damaging |
Het |
| Neto2 |
C |
T |
8: 86,396,396 (GRCm39) |
R83Q |
probably damaging |
Het |
| Ocm |
A |
T |
5: 143,961,388 (GRCm39) |
|
probably null |
Het |
| Or52z14 |
C |
T |
7: 103,253,241 (GRCm39) |
R127C |
probably benign |
Het |
| Pcdha11 |
T |
C |
18: 37,140,477 (GRCm39) |
I702T |
possibly damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Rbbp8nl |
A |
T |
2: 179,922,764 (GRCm39) |
S210T |
probably damaging |
Het |
| Rbl2 |
A |
T |
8: 91,813,774 (GRCm39) |
I340F |
probably benign |
Het |
| Rft1 |
T |
C |
14: 30,388,724 (GRCm39) |
L216P |
possibly damaging |
Het |
| Slc26a10 |
T |
A |
10: 127,015,606 (GRCm39) |
|
probably null |
Het |
| Slc34a1 |
G |
A |
13: 55,556,865 (GRCm39) |
A235T |
possibly damaging |
Het |
| Spag17 |
A |
G |
3: 100,010,772 (GRCm39) |
T2089A |
probably benign |
Het |
| Srek1 |
G |
C |
13: 103,889,536 (GRCm39) |
S260* |
probably null |
Het |
| Sspo |
T |
C |
6: 48,430,989 (GRCm39) |
V624A |
probably benign |
Het |
| Tmem248 |
T |
C |
5: 130,258,403 (GRCm39) |
I32T |
probably damaging |
Het |
| Tnk1 |
T |
G |
11: 69,746,587 (GRCm39) |
T209P |
probably damaging |
Het |
| Trip12 |
TATACATACATACATACATACATACATACATAC |
TATACATACATACATACATACATACATACATACATAC |
1: 84,792,511 (GRCm39) |
|
probably null |
Het |
| Trp53tg5 |
T |
A |
2: 164,313,250 (GRCm39) |
R142* |
probably null |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Vldlr |
C |
T |
19: 27,213,688 (GRCm39) |
T125I |
possibly damaging |
Het |
| Vps8 |
A |
G |
16: 21,378,087 (GRCm39) |
T1033A |
probably benign |
Het |
| Wiz |
A |
C |
17: 32,580,859 (GRCm39) |
H197Q |
probably damaging |
Het |
|
| Other mutations in Tapt1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01992:Tapt1
|
APN |
5 |
44,336,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03011:Tapt1
|
APN |
5 |
44,350,529 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL03018:Tapt1
|
APN |
5 |
44,361,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0385:Tapt1
|
UTSW |
5 |
44,375,443 (GRCm39) |
splice site |
probably null |
|
|
R0624:Tapt1
|
UTSW |
5 |
44,334,448 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1491:Tapt1
|
UTSW |
5 |
44,375,444 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4175:Tapt1
|
UTSW |
5 |
44,334,447 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5794:Tapt1
|
UTSW |
5 |
44,334,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7344:Tapt1
|
UTSW |
5 |
44,345,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7355:Tapt1
|
UTSW |
5 |
44,334,459 (GRCm39) |
missense |
probably benign |
|
|
R7464:Tapt1
|
UTSW |
5 |
44,346,030 (GRCm39) |
nonsense |
probably null |
|
|
R7491:Tapt1
|
UTSW |
5 |
44,345,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8085:Tapt1
|
UTSW |
5 |
44,336,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8710:Tapt1
|
UTSW |
5 |
44,351,743 (GRCm39) |
missense |
probably benign |
0.16 |
|
X0062:Tapt1
|
UTSW |
5 |
44,351,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTTCTTAGAGCAACAGGTAAC -3'
(R):5'- TGTGCCAACTACCAGAGGTAC -3'
Sequencing Primer
(F):5'- GGTAACTAAGAACCCCTTCCATG -3'
(R):5'- ATATGGTCATTTCCCCCATT -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation