Incidental Mutation 'R3810:Ttc21b'
ID |
275143 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc21b
|
Ensembl Gene |
ENSMUSG00000034848 |
Gene Name |
tetratricopeptide repeat domain 21B |
Synonyms |
Thm1, line 158, aln, 2410066K11Rik |
MMRRC Submission |
040880-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3810 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
66014671-66086961 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
C to T
at 66082577 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131758
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102718]
[ENSMUST00000125446]
|
AlphaFold |
Q0HA38 |
Predicted Effect |
probably null
Transcript: ENSMUST00000102718
|
SMART Domains |
Protein: ENSMUSP00000099779 Gene: ENSMUSG00000034848
Domain | Start | End | E-Value | Type |
Blast:TPR
|
109 |
141 |
5e-12 |
BLAST |
Blast:TPR
|
178 |
211 |
3e-12 |
BLAST |
TPR
|
324 |
357 |
4.21e1 |
SMART |
low complexity region
|
379 |
390 |
N/A |
INTRINSIC |
TPR
|
492 |
525 |
8.51e0 |
SMART |
TPR
|
526 |
559 |
5.92e1 |
SMART |
TPR
|
563 |
596 |
7.69e1 |
SMART |
TPR
|
721 |
754 |
3.07e-5 |
SMART |
TPR
|
755 |
788 |
9.45e0 |
SMART |
TPR
|
790 |
821 |
9.24e1 |
SMART |
TPR
|
830 |
863 |
3.05e0 |
SMART |
TPR
|
883 |
916 |
1.55e-1 |
SMART |
TPR
|
917 |
950 |
8.74e0 |
SMART |
TPR
|
951 |
984 |
6.75e1 |
SMART |
Blast:TPR
|
1023 |
1054 |
5e-13 |
BLAST |
Blast:TPR
|
1156 |
1189 |
1e-12 |
BLAST |
TPR
|
1196 |
1229 |
9.7e0 |
SMART |
TPR
|
1265 |
1298 |
1.02e1 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000125446
|
SMART Domains |
Protein: ENSMUSP00000131758 Gene: ENSMUSG00000034848
Domain | Start | End | E-Value | Type |
Blast:TPR
|
108 |
141 |
3e-12 |
BLAST |
Blast:TPR
|
178 |
211 |
3e-12 |
BLAST |
TPR
|
324 |
357 |
4.21e1 |
SMART |
low complexity region
|
379 |
390 |
N/A |
INTRINSIC |
TPR
|
492 |
525 |
8.51e0 |
SMART |
TPR
|
526 |
559 |
5.92e1 |
SMART |
TPR
|
563 |
596 |
7.69e1 |
SMART |
TPR
|
721 |
754 |
3.07e-5 |
SMART |
TPR
|
755 |
788 |
9.45e0 |
SMART |
TPR
|
790 |
821 |
9.24e1 |
SMART |
TPR
|
830 |
863 |
3.05e0 |
SMART |
TPR
|
883 |
916 |
1.55e-1 |
SMART |
TPR
|
917 |
950 |
8.74e0 |
SMART |
TPR
|
951 |
984 |
6.75e1 |
SMART |
Blast:TPR
|
1023 |
1054 |
4e-13 |
BLAST |
Blast:TPR
|
1156 |
1189 |
9e-13 |
BLAST |
TPR
|
1196 |
1229 |
9.7e0 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131503
|
Meta Mutation Damage Score |
0.9479 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
Validation Efficiency |
100% (40/40) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4. [provided by RefSeq, Oct 2011] PHENOTYPE: Homozygous mutation of this gene is embryonic lethal. Mutant embryos exhibit several deformities including polydactyly, microphthalmia, irregular shape of the long bones, rib fusion and truncation, neural tube defects, and abnormal brain structure. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd6 |
T |
A |
14: 8,045,603 (GRCm38) |
V173D |
probably benign |
Het |
Agbl3 |
G |
T |
6: 34,776,664 (GRCm39) |
S385I |
probably damaging |
Het |
Ahcyl2 |
A |
G |
6: 29,891,260 (GRCm39) |
I455V |
probably benign |
Het |
Bpifb2 |
T |
A |
2: 153,733,871 (GRCm39) |
D404E |
probably benign |
Het |
Ctbp1 |
A |
G |
5: 33,424,389 (GRCm39) |
|
probably benign |
Het |
D130040H23Rik |
T |
A |
8: 69,755,022 (GRCm39) |
C160S |
probably damaging |
Het |
Dapk1 |
T |
C |
13: 60,908,503 (GRCm39) |
W1039R |
probably damaging |
Het |
Dock6 |
T |
C |
9: 21,712,873 (GRCm39) |
K1995E |
probably damaging |
Het |
Entpd3 |
A |
G |
9: 120,391,068 (GRCm39) |
E440G |
probably benign |
Het |
Gm20939 |
G |
A |
17: 95,184,138 (GRCm39) |
R262K |
possibly damaging |
Het |
Gm9637 |
A |
T |
14: 19,402,398 (GRCm38) |
|
noncoding transcript |
Het |
Gm9847 |
T |
C |
12: 14,545,148 (GRCm39) |
|
noncoding transcript |
Het |
H2-Q6 |
A |
G |
17: 35,644,757 (GRCm39) |
E182G |
probably damaging |
Het |
Has1 |
T |
C |
17: 18,067,822 (GRCm39) |
Y356C |
probably damaging |
Het |
Hivep2 |
A |
G |
10: 14,006,101 (GRCm39) |
T900A |
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Klhl35 |
A |
G |
7: 99,119,448 (GRCm39) |
D311G |
probably benign |
Het |
Metap2 |
A |
T |
10: 93,706,026 (GRCm39) |
L252* |
probably null |
Het |
Mrgpra9 |
T |
A |
7: 46,885,527 (GRCm39) |
I47F |
probably damaging |
Het |
Muc5b |
T |
C |
7: 141,417,863 (GRCm39) |
L3603P |
possibly damaging |
Het |
Neurl4 |
A |
G |
11: 69,794,859 (GRCm39) |
H323R |
probably damaging |
Het |
Oas1d |
A |
T |
5: 121,053,049 (GRCm39) |
I35F |
probably damaging |
Het |
Or4c124 |
G |
A |
2: 89,156,098 (GRCm39) |
T142M |
probably benign |
Het |
Or4c12b |
T |
A |
2: 89,647,395 (GRCm39) |
S242T |
probably damaging |
Het |
Or5w18 |
C |
T |
2: 87,633,396 (GRCm39) |
S221F |
possibly damaging |
Het |
Or5w19 |
T |
A |
2: 87,698,745 (GRCm39) |
S137T |
probably damaging |
Het |
Orc6 |
T |
A |
8: 86,026,613 (GRCm39) |
S19R |
probably benign |
Het |
Pcdh12 |
T |
C |
18: 38,414,290 (GRCm39) |
E945G |
probably damaging |
Het |
Plekha6 |
A |
G |
1: 133,201,717 (GRCm39) |
M377V |
probably benign |
Het |
Psmd1 |
T |
A |
1: 86,060,437 (GRCm39) |
V828D |
probably damaging |
Het |
Rbbp5 |
T |
C |
1: 132,420,325 (GRCm39) |
V59A |
probably damaging |
Het |
Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
Tas2r130 |
A |
G |
6: 131,607,792 (GRCm39) |
M1T |
probably null |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Trgv2 |
T |
C |
13: 19,521,011 (GRCm39) |
T28A |
possibly damaging |
Het |
Trpc4ap |
T |
A |
2: 155,485,355 (GRCm39) |
I448F |
probably damaging |
Het |
Txndc5 |
T |
C |
13: 38,707,381 (GRCm39) |
K99E |
probably benign |
Het |
Uvrag |
A |
G |
7: 98,628,919 (GRCm39) |
Y383H |
probably damaging |
Het |
Vim |
T |
C |
2: 13,583,563 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Ttc21b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00465:Ttc21b
|
APN |
2 |
66,073,119 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00467:Ttc21b
|
APN |
2 |
66,018,708 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00721:Ttc21b
|
APN |
2 |
66,057,122 (GRCm39) |
missense |
probably benign |
0.06 |
IGL00837:Ttc21b
|
APN |
2 |
66,065,915 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01317:Ttc21b
|
APN |
2 |
66,018,700 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01485:Ttc21b
|
APN |
2 |
66,082,234 (GRCm39) |
splice site |
probably benign |
|
IGL01739:Ttc21b
|
APN |
2 |
66,068,200 (GRCm39) |
missense |
probably benign |
|
IGL02282:Ttc21b
|
APN |
2 |
66,022,081 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02431:Ttc21b
|
APN |
2 |
66,082,229 (GRCm39) |
splice site |
probably benign |
|
IGL02478:Ttc21b
|
APN |
2 |
66,018,624 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02487:Ttc21b
|
APN |
2 |
66,065,500 (GRCm39) |
missense |
probably benign |
0.02 |
IGL03327:Ttc21b
|
APN |
2 |
66,068,192 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL03346:Ttc21b
|
APN |
2 |
66,068,192 (GRCm39) |
missense |
possibly damaging |
0.92 |
plus-sized
|
UTSW |
2 |
66,073,023 (GRCm39) |
missense |
probably damaging |
1.00 |
puffer
|
UTSW |
2 |
66,057,244 (GRCm39) |
missense |
probably benign |
0.12 |
PIT4696001:Ttc21b
|
UTSW |
2 |
66,061,563 (GRCm39) |
splice site |
probably null |
|
R0049:Ttc21b
|
UTSW |
2 |
66,053,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R0049:Ttc21b
|
UTSW |
2 |
66,053,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R0373:Ttc21b
|
UTSW |
2 |
66,018,670 (GRCm39) |
missense |
probably damaging |
0.99 |
R0440:Ttc21b
|
UTSW |
2 |
66,066,726 (GRCm39) |
missense |
probably benign |
0.03 |
R0504:Ttc21b
|
UTSW |
2 |
66,053,142 (GRCm39) |
splice site |
probably benign |
|
R0600:Ttc21b
|
UTSW |
2 |
66,069,914 (GRCm39) |
missense |
probably damaging |
0.99 |
R0621:Ttc21b
|
UTSW |
2 |
66,056,355 (GRCm39) |
missense |
probably benign |
0.07 |
R0633:Ttc21b
|
UTSW |
2 |
66,066,577 (GRCm39) |
missense |
probably benign |
|
R0863:Ttc21b
|
UTSW |
2 |
66,073,117 (GRCm39) |
missense |
probably benign |
|
R1617:Ttc21b
|
UTSW |
2 |
66,056,379 (GRCm39) |
missense |
probably benign |
0.22 |
R1837:Ttc21b
|
UTSW |
2 |
66,028,106 (GRCm39) |
missense |
probably benign |
0.01 |
R1844:Ttc21b
|
UTSW |
2 |
66,053,921 (GRCm39) |
nonsense |
probably null |
|
R2120:Ttc21b
|
UTSW |
2 |
66,057,098 (GRCm39) |
missense |
probably benign |
0.12 |
R2205:Ttc21b
|
UTSW |
2 |
66,065,467 (GRCm39) |
missense |
possibly damaging |
0.51 |
R2392:Ttc21b
|
UTSW |
2 |
66,037,794 (GRCm39) |
critical splice donor site |
probably null |
|
R3689:Ttc21b
|
UTSW |
2 |
66,054,488 (GRCm39) |
missense |
probably benign |
0.22 |
R3847:Ttc21b
|
UTSW |
2 |
66,073,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R3897:Ttc21b
|
UTSW |
2 |
66,065,413 (GRCm39) |
missense |
probably benign |
0.01 |
R4561:Ttc21b
|
UTSW |
2 |
66,016,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R4671:Ttc21b
|
UTSW |
2 |
66,057,257 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5161:Ttc21b
|
UTSW |
2 |
66,059,367 (GRCm39) |
missense |
probably damaging |
0.98 |
R5274:Ttc21b
|
UTSW |
2 |
66,066,627 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5594:Ttc21b
|
UTSW |
2 |
66,066,579 (GRCm39) |
missense |
probably benign |
0.39 |
R6210:Ttc21b
|
UTSW |
2 |
66,066,698 (GRCm39) |
missense |
probably benign |
0.00 |
R6305:Ttc21b
|
UTSW |
2 |
66,018,614 (GRCm39) |
missense |
probably damaging |
0.99 |
R6456:Ttc21b
|
UTSW |
2 |
66,018,675 (GRCm39) |
missense |
probably damaging |
0.97 |
R6482:Ttc21b
|
UTSW |
2 |
66,057,244 (GRCm39) |
missense |
probably benign |
0.12 |
R6645:Ttc21b
|
UTSW |
2 |
66,066,721 (GRCm39) |
missense |
probably benign |
0.01 |
R6800:Ttc21b
|
UTSW |
2 |
66,038,994 (GRCm39) |
splice site |
probably null |
|
R6815:Ttc21b
|
UTSW |
2 |
66,057,134 (GRCm39) |
missense |
probably benign |
0.00 |
R6959:Ttc21b
|
UTSW |
2 |
66,061,656 (GRCm39) |
missense |
probably benign |
0.05 |
R7125:Ttc21b
|
UTSW |
2 |
66,066,670 (GRCm39) |
missense |
probably benign |
0.00 |
R7265:Ttc21b
|
UTSW |
2 |
66,040,517 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7283:Ttc21b
|
UTSW |
2 |
66,039,062 (GRCm39) |
missense |
probably damaging |
0.96 |
R7560:Ttc21b
|
UTSW |
2 |
66,047,548 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7561:Ttc21b
|
UTSW |
2 |
66,047,548 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7816:Ttc21b
|
UTSW |
2 |
66,077,705 (GRCm39) |
missense |
possibly damaging |
0.82 |
R8172:Ttc21b
|
UTSW |
2 |
66,082,500 (GRCm39) |
missense |
probably benign |
0.01 |
R8179:Ttc21b
|
UTSW |
2 |
66,031,824 (GRCm39) |
missense |
probably benign |
|
R9047:Ttc21b
|
UTSW |
2 |
66,031,596 (GRCm39) |
missense |
|
|
R9282:Ttc21b
|
UTSW |
2 |
66,056,349 (GRCm39) |
missense |
possibly damaging |
0.65 |
R9336:Ttc21b
|
UTSW |
2 |
66,057,287 (GRCm39) |
missense |
probably benign |
|
R9464:Ttc21b
|
UTSW |
2 |
66,053,866 (GRCm39) |
missense |
probably damaging |
1.00 |
X0013:Ttc21b
|
UTSW |
2 |
66,056,294 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCTGGAAATCAAGATTGGGGTTTG -3'
(R):5'- CCTGAGAAAGCAAAGCACTG -3'
Sequencing Primer
(F):5'- CTTAGTCCAAAGCAAGGATTCAG -3'
(R):5'- AGCAAAGCACTGATTTGTCAG -3'
|
Posted On |
2015-04-02 |