Incidental Mutation 'R4498:Ttc21a'
| ID |
331703 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc21a
|
| Ensembl Gene |
ENSMUSG00000032514 |
| Gene Name |
tetratricopeptide repeat domain 21A |
| Synonyms |
Thm2, 4921538N17Rik |
| MMRRC Submission |
041751-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R4498 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
119766672-119796859 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 119787885 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 818
(D818N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035100]
[ENSMUST00000177637]
|
| AlphaFold |
Q8C0S4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035100
AA Change: D818N
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000035100
Gene: ENSMUSG00000032514
AA Change: D818N
| 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 |
noncoding transcript
Transcript: ENSMUST00000161967
|
| 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 |
|
| Meta Mutation Damage Score |
0.1426 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
91% (53/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco2 |
G |
A |
15: 81,779,486 (GRCm39) |
A97T |
probably damaging |
Het |
| Acot9 |
T |
A |
X: 154,047,064 (GRCm39) |
L18* |
probably null |
Het |
| Arhgap12 |
A |
T |
18: 6,111,774 (GRCm39) |
C69S |
probably damaging |
Het |
| Ccdc17 |
G |
T |
4: 116,454,438 (GRCm39) |
|
probably benign |
Het |
| Ctnnd2 |
A |
C |
15: 30,620,020 (GRCm39) |
D124A |
probably damaging |
Het |
| Cux1 |
T |
C |
5: 136,341,847 (GRCm39) |
N424S |
probably damaging |
Het |
| Dhrs7c |
T |
C |
11: 67,706,706 (GRCm39) |
F214S |
possibly damaging |
Het |
| Fat2 |
T |
C |
11: 55,160,923 (GRCm39) |
D3269G |
possibly damaging |
Het |
| Fhod3 |
T |
A |
18: 25,243,296 (GRCm39) |
|
probably null |
Het |
| Glul |
G |
T |
1: 153,782,849 (GRCm39) |
G187* |
probably null |
Het |
| Gnmt |
ATTAGGGGATGGTCTTAGGG |
ATTAGGG |
17: 47,036,662 (GRCm39) |
294 |
probably benign |
Het |
| H2-Q7 |
A |
T |
17: 35,658,506 (GRCm39) |
Y48F |
probably damaging |
Het |
| Hes3 |
T |
C |
4: 152,371,542 (GRCm39) |
T136A |
probably benign |
Het |
| Krt40 |
T |
C |
11: 99,433,900 (GRCm39) |
T29A |
possibly damaging |
Het |
| Lrrc37a |
C |
A |
11: 103,392,624 (GRCm39) |
D934Y |
probably benign |
Het |
| Mctp2 |
T |
A |
7: 71,833,599 (GRCm39) |
D581V |
probably damaging |
Het |
| Med27 |
T |
C |
2: 29,361,354 (GRCm39) |
S38P |
probably damaging |
Het |
| Mff |
A |
G |
1: 82,719,501 (GRCm39) |
|
probably benign |
Het |
| Mmadhc |
T |
C |
2: 50,170,236 (GRCm39) |
K292R |
probably benign |
Het |
| Mmp24 |
A |
G |
2: 155,655,908 (GRCm39) |
I449V |
possibly damaging |
Het |
| Mthfd1 |
G |
T |
12: 76,361,764 (GRCm39) |
L123F |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,059,711 (GRCm39) |
L1363Q |
probably damaging |
Het |
| Myh4 |
T |
C |
11: 67,142,578 (GRCm39) |
I913T |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,485,869 (GRCm39) |
N649K |
probably benign |
Het |
| Myo7b |
A |
G |
18: 32,147,282 (GRCm39) |
I87T |
probably benign |
Het |
| Ndst4 |
A |
G |
3: 125,232,007 (GRCm39) |
D192G |
probably damaging |
Het |
| Nup155 |
A |
G |
15: 8,183,157 (GRCm39) |
D1239G |
possibly damaging |
Het |
| Or5b21 |
T |
C |
19: 12,840,033 (GRCm39) |
V298A |
probably damaging |
Het |
| Or7e173 |
G |
C |
9: 19,939,029 (GRCm39) |
N68K |
possibly damaging |
Het |
| Phf10 |
T |
A |
17: 15,165,377 (GRCm39) |
N493I |
probably benign |
Het |
| Pramel32 |
A |
T |
4: 88,547,129 (GRCm39) |
|
probably null |
Het |
| Prr12 |
T |
C |
7: 44,695,338 (GRCm39) |
E1376G |
unknown |
Het |
| Rasa3 |
T |
C |
8: 13,664,587 (GRCm39) |
H75R |
probably benign |
Het |
| Rin3 |
G |
A |
12: 102,335,939 (GRCm39) |
V537M |
probably damaging |
Het |
| Samd4 |
C |
T |
14: 47,333,566 (GRCm39) |
T272I |
probably damaging |
Het |
| Septin5 |
C |
T |
16: 18,442,142 (GRCm39) |
G257D |
probably damaging |
Het |
| Serpina6 |
T |
C |
12: 103,620,326 (GRCm39) |
K141R |
probably benign |
Het |
| Siglecf |
T |
A |
7: 43,001,700 (GRCm39) |
I170N |
possibly damaging |
Het |
| Spopl |
C |
T |
2: 23,407,957 (GRCm39) |
V241M |
probably damaging |
Het |
| Stk40 |
G |
A |
4: 126,023,544 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
G |
10: 4,981,768 (GRCm39) |
S8700P |
probably benign |
Het |
| Tbc1d4 |
C |
T |
14: 101,845,772 (GRCm39) |
G42E |
probably damaging |
Het |
| Tfap2c |
C |
T |
2: 172,399,102 (GRCm39) |
Q425* |
probably null |
Het |
| Tmem255b |
T |
C |
8: 13,505,998 (GRCm39) |
S202P |
probably damaging |
Het |
| Traf6 |
T |
C |
2: 101,514,891 (GRCm39) |
S16P |
probably benign |
Het |
| Ttc12 |
A |
G |
9: 49,383,705 (GRCm39) |
I66T |
probably damaging |
Het |
| Zfp81 |
A |
T |
17: 33,553,677 (GRCm39) |
I379N |
possibly damaging |
Het |
| Zgrf1 |
C |
A |
3: 127,379,749 (GRCm39) |
S211* |
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 |
|
R2656:Ttc21a
|
UTSW |
9 |
119,770,331 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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'- TGCAGAAGCCAAACTGATGCC -3'
(R):5'- GTGGCTCTTGTAAACCTTTGCC -3'
Sequencing Primer
(F):5'- CCCATATGTCCTGTTTGCACAAAAGG -3'
(R):5'- CACTTGACCTCATTTATCATGGATGG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation