Incidental Mutation 'R2656:Ttc21a'
| ID |
252772 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc21a
|
| Ensembl Gene |
ENSMUSG00000032514 |
| Gene Name |
tetratricopeptide repeat domain 21A |
| Synonyms |
Thm2, 4921538N17Rik |
| MMRRC Submission |
040431-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R2656 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
119766672-119796859 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119770331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 134
(D134G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035099]
[ENSMUST00000035100]
[ENSMUST00000177637]
|
| AlphaFold |
Q8C0S4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035099
|
| SMART Domains |
Protein: ENSMUSP00000035099
Gene: ENSMUSG00000032513
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GRASP55_65
|
2 |
99 |
2.6e-22 |
PFAM |
|
Pfam:GRASP55_65
|
68 |
204 |
4e-60 |
PFAM |
|
low complexity region
|
212 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
361 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035100
AA Change: D134G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000035100
Gene: ENSMUSG00000032514
AA Change: D134G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
107 |
118 |
N/A |
INTRINSIC |
|
Blast:TPR
|
214 |
247 |
6e-11 |
BLAST |
|
TPR
|
326 |
359 |
4.55e1 |
SMART |
|
TPR
|
494 |
527 |
1.97e1 |
SMART |
|
Blast:TPR
|
528 |
561 |
1e-14 |
BLAST |
|
TPR
|
565 |
598 |
2.63e1 |
SMART |
|
Blast:TPR
|
617 |
649 |
6e-11 |
BLAST |
|
TPR
|
721 |
754 |
1.33e0 |
SMART |
|
TPR
|
755 |
788 |
4.84e-3 |
SMART |
|
TPR
|
790 |
821 |
1.14e1 |
SMART |
|
TPR
|
883 |
916 |
9.03e-3 |
SMART |
|
low complexity region
|
921 |
935 |
N/A |
INTRINSIC |
|
TPR
|
951 |
984 |
1.08e1 |
SMART |
|
Blast:TPR
|
1022 |
1054 |
3e-12 |
BLAST |
|
low complexity region
|
1117 |
1129 |
N/A |
INTRINSIC |
|
TPR
|
1195 |
1228 |
2.22e-2 |
SMART |
|
TPR
|
1264 |
1297 |
9.73e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159128
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160790
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177637
|
| SMART Domains |
Protein: ENSMUSP00000136413
Gene: ENSMUSG00000052336
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
49 |
294 |
3.5e-50 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213409
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
A |
G |
5: 8,167,696 (GRCm39) |
C655R |
probably damaging |
Het |
| Adgrf3 |
A |
T |
5: 30,401,436 (GRCm39) |
V864D |
possibly damaging |
Het |
| Angptl3 |
A |
G |
4: 98,926,201 (GRCm39) |
I444V |
probably benign |
Het |
| Atp8b2 |
C |
T |
3: 89,849,065 (GRCm39) |
A1090T |
probably benign |
Het |
| Bcl2l2 |
C |
T |
14: 55,122,889 (GRCm39) |
R47C |
probably benign |
Het |
| Ces2a |
G |
A |
8: 105,462,766 (GRCm39) |
M118I |
probably benign |
Het |
| Cyp4a29 |
T |
G |
4: 115,106,921 (GRCm39) |
L193V |
possibly damaging |
Het |
| Dpp8 |
A |
G |
9: 64,988,086 (GRCm39) |
Y877C |
probably damaging |
Het |
| Enpp6 |
C |
T |
8: 47,535,453 (GRCm39) |
R33* |
probably null |
Het |
| Fsip2 |
G |
A |
2: 82,809,389 (GRCm39) |
D1903N |
possibly damaging |
Het |
| Ggt1 |
T |
A |
10: 75,417,219 (GRCm39) |
Y5* |
probably null |
Het |
| Gm14412 |
A |
T |
2: 177,006,993 (GRCm39) |
C301S |
unknown |
Het |
| Gpatch2l |
T |
A |
12: 86,335,584 (GRCm39) |
D428E |
probably damaging |
Het |
| Grin2b |
C |
T |
6: 135,710,427 (GRCm39) |
G1040S |
probably damaging |
Het |
| Has2 |
T |
C |
15: 56,545,224 (GRCm39) |
D126G |
possibly damaging |
Het |
| Itgam |
T |
G |
7: 127,715,987 (GRCm39) |
L1120R |
probably null |
Het |
| Kank4 |
T |
C |
4: 98,667,194 (GRCm39) |
N418D |
probably damaging |
Het |
| Kcnk3 |
T |
C |
5: 30,780,015 (GRCm39) |
V355A |
possibly damaging |
Het |
| Lonrf2 |
C |
T |
1: 38,855,041 (GRCm39) |
|
probably null |
Het |
| Lrp1b |
A |
T |
2: 41,401,593 (GRCm39) |
C240S |
probably damaging |
Het |
| Mapk8ip3 |
T |
G |
17: 25,131,781 (GRCm39) |
E386A |
probably damaging |
Het |
| Mtmr14 |
A |
G |
6: 113,217,327 (GRCm39) |
I80V |
probably benign |
Het |
| Nav2 |
A |
C |
7: 49,195,690 (GRCm39) |
D961A |
probably damaging |
Het |
| Nmt2 |
A |
G |
2: 3,308,050 (GRCm39) |
D107G |
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,394,681 (GRCm39) |
K761E |
probably damaging |
Het |
| Ogdh |
A |
G |
11: 6,298,678 (GRCm39) |
T641A |
probably benign |
Het |
| Ogdhl |
T |
G |
14: 32,054,783 (GRCm39) |
F244V |
possibly damaging |
Het |
| Or2ag17 |
T |
A |
7: 106,389,720 (GRCm39) |
T163S |
probably damaging |
Het |
| Or51k1 |
G |
A |
7: 103,661,072 (GRCm39) |
S279L |
probably damaging |
Het |
| Or5b102 |
A |
T |
19: 13,041,348 (GRCm39) |
H191L |
probably benign |
Het |
| Or5b97 |
A |
G |
19: 12,879,030 (GRCm39) |
I38T |
probably benign |
Het |
| Pfpl |
T |
C |
19: 12,407,600 (GRCm39) |
I617T |
probably benign |
Het |
| Ppfia2 |
T |
G |
10: 106,701,268 (GRCm39) |
|
probably null |
Het |
| Prickle1 |
T |
C |
15: 93,401,251 (GRCm39) |
E411G |
probably benign |
Het |
| Prpsap2 |
C |
A |
11: 61,621,051 (GRCm39) |
M343I |
probably benign |
Het |
| Prpsap2 |
A |
G |
11: 61,643,717 (GRCm39) |
V72A |
probably benign |
Het |
| Ranbp17 |
A |
T |
11: 33,193,122 (GRCm39) |
D977E |
probably benign |
Het |
| Rin1 |
T |
C |
19: 5,102,204 (GRCm39) |
S238P |
probably damaging |
Het |
| Scap |
C |
T |
9: 110,203,087 (GRCm39) |
R254W |
probably damaging |
Het |
| Scn3a |
T |
C |
2: 65,356,862 (GRCm39) |
D194G |
probably damaging |
Het |
| Shisa7 |
T |
C |
7: 4,832,818 (GRCm39) |
H481R |
possibly damaging |
Het |
| Slc6a6 |
T |
C |
6: 91,718,029 (GRCm39) |
Y323H |
probably damaging |
Het |
| Thoc2l |
A |
G |
5: 104,667,181 (GRCm39) |
I568V |
probably benign |
Het |
| Tlr9 |
T |
C |
9: 106,101,140 (GRCm39) |
S144P |
probably benign |
Het |
| Tmem69 |
T |
A |
4: 116,410,787 (GRCm39) |
K61M |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,724,614 (GRCm39) |
|
probably benign |
Het |
| Vwf |
A |
G |
6: 125,532,324 (GRCm39) |
T26A |
probably benign |
Het |
| Zbtb16 |
A |
T |
9: 48,743,988 (GRCm39) |
I108N |
probably damaging |
Het |
| Zc3h7b |
T |
A |
15: 81,664,631 (GRCm39) |
Y497N |
probably damaging |
Het |
| Zfp652 |
A |
G |
11: 95,640,155 (GRCm39) |
S27G |
probably damaging |
Het |
| Zfp808 |
A |
G |
13: 62,320,666 (GRCm39) |
T632A |
possibly damaging |
Het |
| Znhit6 |
T |
C |
3: 145,283,924 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ttc21a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00576:Ttc21a
|
APN |
9 |
119,794,885 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01996:Ttc21a
|
APN |
9 |
119,787,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02160:Ttc21a
|
APN |
9 |
119,785,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02163:Ttc21a
|
APN |
9 |
119,779,901 (GRCm39) |
nonsense |
probably null |
|
|
IGL02252:Ttc21a
|
APN |
9 |
119,785,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02901:Ttc21a
|
APN |
9 |
119,787,347 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03105:Ttc21a
|
APN |
9 |
119,771,642 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03155:Ttc21a
|
APN |
9 |
119,773,042 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03323:Ttc21a
|
APN |
9 |
119,769,602 (GRCm39) |
intron |
probably benign |
|
|
R0054:Ttc21a
|
UTSW |
9 |
119,773,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0398:Ttc21a
|
UTSW |
9 |
119,783,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0452:Ttc21a
|
UTSW |
9 |
119,768,220 (GRCm39) |
intron |
probably benign |
|
|
R0541:Ttc21a
|
UTSW |
9 |
119,785,892 (GRCm39) |
intron |
probably benign |
|
|
R0545:Ttc21a
|
UTSW |
9 |
119,787,865 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0605:Ttc21a
|
UTSW |
9 |
119,790,908 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1352:Ttc21a
|
UTSW |
9 |
119,783,718 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1417:Ttc21a
|
UTSW |
9 |
119,783,327 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1471:Ttc21a
|
UTSW |
9 |
119,771,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1479:Ttc21a
|
UTSW |
9 |
119,786,013 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1631:Ttc21a
|
UTSW |
9 |
119,783,228 (GRCm39) |
splice site |
probably null |
|
|
R1905:Ttc21a
|
UTSW |
9 |
119,795,823 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2141:Ttc21a
|
UTSW |
9 |
119,793,361 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2213:Ttc21a
|
UTSW |
9 |
119,769,527 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2265:Ttc21a
|
UTSW |
9 |
119,788,074 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R2327:Ttc21a
|
UTSW |
9 |
119,795,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3000:Ttc21a
|
UTSW |
9 |
119,781,320 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3792:Ttc21a
|
UTSW |
9 |
119,783,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3938:Ttc21a
|
UTSW |
9 |
119,779,882 (GRCm39) |
intron |
probably benign |
|
|
R4232:Ttc21a
|
UTSW |
9 |
119,771,684 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4492:Ttc21a
|
UTSW |
9 |
119,770,346 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4498:Ttc21a
|
UTSW |
9 |
119,787,885 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4655:Ttc21a
|
UTSW |
9 |
119,790,828 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4890:Ttc21a
|
UTSW |
9 |
119,788,103 (GRCm39) |
missense |
probably benign |
|
|
R4960:Ttc21a
|
UTSW |
9 |
119,774,067 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4972:Ttc21a
|
UTSW |
9 |
119,774,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5015:Ttc21a
|
UTSW |
9 |
119,795,195 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5092:Ttc21a
|
UTSW |
9 |
119,771,731 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5117:Ttc21a
|
UTSW |
9 |
119,795,631 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5123:Ttc21a
|
UTSW |
9 |
119,781,278 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5452:Ttc21a
|
UTSW |
9 |
119,780,037 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5733:Ttc21a
|
UTSW |
9 |
119,770,327 (GRCm39) |
missense |
probably benign |
|
|
R5734:Ttc21a
|
UTSW |
9 |
119,795,732 (GRCm39) |
missense |
probably benign |
|
|
R5869:Ttc21a
|
UTSW |
9 |
119,787,858 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6214:Ttc21a
|
UTSW |
9 |
119,795,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6215:Ttc21a
|
UTSW |
9 |
119,795,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6279:Ttc21a
|
UTSW |
9 |
119,790,905 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6284:Ttc21a
|
UTSW |
9 |
119,773,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6300:Ttc21a
|
UTSW |
9 |
119,790,905 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6800:Ttc21a
|
UTSW |
9 |
119,770,268 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6833:Ttc21a
|
UTSW |
9 |
119,771,701 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7009:Ttc21a
|
UTSW |
9 |
119,787,139 (GRCm39) |
nonsense |
probably null |
|
|
R7060:Ttc21a
|
UTSW |
9 |
119,795,742 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7170:Ttc21a
|
UTSW |
9 |
119,774,607 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7418:Ttc21a
|
UTSW |
9 |
119,788,117 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7438:Ttc21a
|
UTSW |
9 |
119,774,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7595:Ttc21a
|
UTSW |
9 |
119,787,135 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7703:Ttc21a
|
UTSW |
9 |
119,788,095 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8076:Ttc21a
|
UTSW |
9 |
119,795,392 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8217:Ttc21a
|
UTSW |
9 |
119,783,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8471:Ttc21a
|
UTSW |
9 |
119,792,242 (GRCm39) |
splice site |
probably null |
|
|
R8558:Ttc21a
|
UTSW |
9 |
119,787,835 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8696:Ttc21a
|
UTSW |
9 |
119,772,977 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8739:Ttc21a
|
UTSW |
9 |
119,796,371 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8768:Ttc21a
|
UTSW |
9 |
119,770,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8912:Ttc21a
|
UTSW |
9 |
119,770,367 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9006:Ttc21a
|
UTSW |
9 |
119,792,130 (GRCm39) |
intron |
probably benign |
|
|
R9214:Ttc21a
|
UTSW |
9 |
119,772,941 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9235:Ttc21a
|
UTSW |
9 |
119,774,559 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9521:Ttc21a
|
UTSW |
9 |
119,787,181 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9643:Ttc21a
|
UTSW |
9 |
119,771,686 (GRCm39) |
missense |
probably benign |
|
|
RF004:Ttc21a
|
UTSW |
9 |
119,795,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ttc21a
|
UTSW |
9 |
119,771,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGAAGAGGACATCCGCTC -3'
(R):5'- CATTTAGACCTGCCTGTGCC -3'
Sequencing Primer
(F):5'- GAGGACATCCGCTCCTCACTC -3'
(R):5'- CTCACTGCCAGGCGTATG -3'
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| Posted On |
2014-12-04 |
Incidental Mutation