Incidental Mutation 'R5161:Ttc21b'
| ID |
396980 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc21b
|
| Ensembl Gene |
ENSMUSG00000034848 |
| Gene Name |
tetratricopeptide repeat domain 21B |
| Synonyms |
Thm1, line 158, aln, 2410066K11Rik |
| MMRRC Submission |
042743-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5161 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
66014671-66086961 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66059367 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 545
(C545R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102718]
[ENSMUST00000125446]
|
| AlphaFold |
Q0HA38 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102718
AA Change: C545R
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099779
Gene: ENSMUSG00000034848
AA Change: C545R
| 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 damaging
Transcript: ENSMUST00000125446
AA Change: C545R
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131758
Gene: ENSMUSG00000034848
AA Change: C545R
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169968
|
| Meta Mutation Damage Score |
0.8522 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (56/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,055,344 (GRCm39) |
E27* |
probably null |
Het |
| 4930407I10Rik |
G |
T |
15: 81,947,542 (GRCm39) |
E480* |
probably null |
Het |
| Acad11 |
T |
C |
9: 104,001,227 (GRCm39) |
I591T |
probably benign |
Het |
| Acsbg3 |
A |
T |
17: 57,189,888 (GRCm39) |
I305F |
possibly damaging |
Het |
| Adamts13 |
G |
A |
2: 26,883,020 (GRCm39) |
E857K |
probably benign |
Het |
| Atf2 |
A |
C |
2: 73,660,134 (GRCm39) |
|
probably null |
Het |
| Cass4 |
C |
A |
2: 172,274,244 (GRCm39) |
A675E |
probably damaging |
Het |
| Coa8 |
C |
A |
12: 111,689,208 (GRCm39) |
Q97K |
possibly damaging |
Het |
| Ctsd |
A |
T |
7: 141,930,881 (GRCm39) |
L283Q |
probably damaging |
Het |
| Ddrgk1 |
A |
T |
2: 130,505,296 (GRCm39) |
M1K |
probably null |
Het |
| Dipk1b |
C |
T |
2: 26,526,260 (GRCm39) |
T398M |
possibly damaging |
Het |
| Dock1 |
G |
A |
7: 134,335,791 (GRCm39) |
A62T |
possibly damaging |
Het |
| Ehmt1 |
T |
C |
2: 24,748,207 (GRCm39) |
D407G |
possibly damaging |
Het |
| Eif1ad17 |
T |
A |
12: 87,978,887 (GRCm39) |
D90E |
possibly damaging |
Het |
| Eml6 |
A |
G |
11: 29,974,467 (GRCm39) |
V37A |
probably damaging |
Het |
| Fam20a |
C |
T |
11: 109,564,196 (GRCm39) |
R519Q |
probably benign |
Het |
| Fat1 |
A |
G |
8: 45,405,549 (GRCm39) |
T767A |
probably benign |
Het |
| Fbxl8 |
A |
T |
8: 105,995,538 (GRCm39) |
H350L |
possibly damaging |
Het |
| Gm10226 |
A |
C |
17: 21,910,834 (GRCm39) |
Q23P |
possibly damaging |
Het |
| Gm38706 |
A |
T |
6: 130,459,868 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch2l |
G |
T |
12: 86,313,950 (GRCm39) |
R362L |
probably benign |
Het |
| Hyal5 |
A |
T |
6: 24,891,602 (GRCm39) |
D472V |
probably benign |
Het |
| Ighv5-9-1 |
T |
C |
12: 113,699,777 (GRCm39) |
S102G |
possibly damaging |
Het |
| Itpripl1 |
A |
C |
2: 126,983,777 (GRCm39) |
L115R |
probably damaging |
Het |
| Itsn1 |
G |
A |
16: 91,705,726 (GRCm39) |
C169Y |
possibly damaging |
Het |
| Krt88 |
T |
A |
15: 101,348,349 (GRCm39) |
C12S |
probably benign |
Het |
| Macroh2a1 |
T |
C |
13: 56,237,594 (GRCm39) |
D222G |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,582,895 (GRCm39) |
V2557M |
probably damaging |
Het |
| Myh7b |
G |
C |
2: 155,474,293 (GRCm39) |
R1669S |
possibly damaging |
Het |
| Nbeal2 |
G |
T |
9: 110,458,936 (GRCm39) |
Q1996K |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,919,430 (GRCm39) |
E6205G |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,955,136 (GRCm39) |
Y3926H |
possibly damaging |
Het |
| Or14a259 |
T |
C |
7: 86,013,546 (GRCm39) |
|
probably null |
Het |
| Or5an10 |
A |
T |
19: 12,276,153 (GRCm39) |
S114R |
probably damaging |
Het |
| P2ry2 |
A |
T |
7: 100,648,136 (GRCm39) |
Y56* |
probably null |
Het |
| Pate10 |
T |
A |
9: 35,652,884 (GRCm39) |
L42* |
probably null |
Het |
| Pde1a |
T |
C |
2: 79,708,488 (GRCm39) |
N242S |
probably null |
Het |
| Pik3cg |
C |
T |
12: 32,254,977 (GRCm39) |
E337K |
possibly damaging |
Het |
| Plxna2 |
A |
G |
1: 194,433,712 (GRCm39) |
N587S |
probably benign |
Het |
| Pmpca |
T |
C |
2: 26,285,183 (GRCm39) |
|
probably null |
Het |
| Ptpn4 |
C |
T |
1: 119,635,593 (GRCm39) |
W370* |
probably null |
Het |
| Qki |
A |
T |
17: 10,434,419 (GRCm39) |
|
probably null |
Het |
| Rapgef3 |
A |
G |
15: 97,655,606 (GRCm39) |
V427A |
probably damaging |
Het |
| Rbbp8 |
T |
G |
18: 11,855,171 (GRCm39) |
D465E |
probably damaging |
Het |
| Scn2a |
A |
G |
2: 65,594,935 (GRCm39) |
K1928R |
probably benign |
Het |
| Slc5a5 |
A |
C |
8: 71,341,492 (GRCm39) |
C346G |
probably damaging |
Het |
| Spata2l |
A |
G |
8: 123,962,288 (GRCm39) |
L91P |
probably damaging |
Het |
| Syt3 |
C |
A |
7: 44,045,439 (GRCm39) |
H560N |
possibly damaging |
Het |
| Timm23 |
G |
A |
14: 31,915,882 (GRCm39) |
P63L |
probably damaging |
Het |
| Tmem191 |
T |
C |
16: 17,094,743 (GRCm39) |
S108P |
possibly damaging |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Usp17ld |
A |
T |
7: 102,899,579 (GRCm39) |
L451* |
probably null |
Het |
| Vmn1r15 |
T |
C |
6: 57,235,497 (GRCm39) |
Y122H |
probably benign |
Het |
| Vxn |
G |
T |
1: 9,692,902 (GRCm39) |
G145* |
probably null |
Het |
| Zfp1002 |
A |
T |
2: 150,097,135 (GRCm39) |
I98K |
probably damaging |
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 |
|
R3810:Ttc21b
|
UTSW |
2 |
66,082,577 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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 |
|
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'- CCCTCTGCCCATGAAATTCG -3'
(R):5'- TAGGAATGGAGGCCAGGTTC -3'
Sequencing Primer
(F):5'- GCCCATGAAATTCGACATTGTGG -3'
(R):5'- TTCACGGACAGAGACGTTAAAC -3'
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| Posted On |
2016-06-21 |
Incidental Mutation