Incidental Mutation 'R4492:Ttc21a'
| ID |
330786 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc21a
|
| Ensembl Gene |
ENSMUSG00000032514 |
| Gene Name |
tetratricopeptide repeat domain 21A |
| Synonyms |
Thm2, 4921538N17Rik |
| MMRRC Submission |
041581-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R4492 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
119766672-119796859 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119770346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 139
(V139A)
|
| 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 benign
Transcript: ENSMUST00000035100
AA Change: V139A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000035100
Gene: ENSMUSG00000032514
AA Change: V139A
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr6 |
T |
G |
10: 89,561,676 (GRCm39) |
I157L |
probably benign |
Het |
| Amph |
T |
C |
13: 19,333,928 (GRCm39) |
V663A |
possibly damaging |
Het |
| Anapc16 |
A |
G |
10: 59,826,724 (GRCm39) |
S50P |
possibly damaging |
Het |
| Ank3 |
T |
A |
10: 69,644,755 (GRCm39) |
V60D |
probably damaging |
Het |
| Btbd9 |
A |
G |
17: 30,746,545 (GRCm39) |
Y94H |
probably damaging |
Het |
| Chil3 |
A |
G |
3: 106,063,017 (GRCm39) |
I191T |
probably damaging |
Het |
| Clpb |
T |
C |
7: 101,436,929 (GRCm39) |
L668P |
probably damaging |
Het |
| Cyp2d22 |
G |
A |
15: 82,258,571 (GRCm39) |
H97Y |
probably benign |
Het |
| Dhrs7 |
A |
T |
12: 72,699,899 (GRCm39) |
N244K |
probably damaging |
Het |
| Dusp4 |
C |
T |
8: 35,274,890 (GRCm39) |
T3M |
possibly damaging |
Het |
| Edc4 |
GGATTTTAGCCA |
G |
8: 106,611,700 (GRCm39) |
|
probably null |
Het |
| Etl4 |
G |
A |
2: 20,811,676 (GRCm39) |
S1621N |
possibly damaging |
Het |
| Fam174a |
T |
C |
1: 95,241,701 (GRCm39) |
S54P |
probably benign |
Het |
| Fdxacb1 |
T |
C |
9: 50,681,547 (GRCm39) |
F7S |
probably damaging |
Het |
| Focad |
G |
A |
4: 88,278,142 (GRCm39) |
|
probably null |
Het |
| Gpr156 |
T |
A |
16: 37,812,468 (GRCm39) |
L268H |
probably damaging |
Het |
| Gpr17 |
A |
T |
18: 32,080,304 (GRCm39) |
I253N |
possibly damaging |
Het |
| H2-T23 |
A |
T |
17: 36,343,058 (GRCm39) |
N106K |
probably damaging |
Het |
| Hspa4 |
T |
C |
11: 53,171,296 (GRCm39) |
R303G |
probably damaging |
Het |
| Irgm1 |
G |
A |
11: 48,756,955 (GRCm39) |
|
silent |
Het |
| Jph1 |
A |
C |
1: 17,067,770 (GRCm39) |
I114S |
probably damaging |
Het |
| Kcna1 |
C |
T |
6: 126,619,238 (GRCm39) |
D361N |
possibly damaging |
Het |
| Kcna4 |
G |
A |
2: 107,126,436 (GRCm39) |
R390Q |
probably damaging |
Het |
| Lum |
C |
A |
10: 97,404,300 (GRCm39) |
P65H |
probably damaging |
Het |
| Mc4r |
A |
G |
18: 66,992,711 (GRCm39) |
L134P |
probably benign |
Het |
| Mroh8 |
A |
T |
2: 157,099,960 (GRCm39) |
I248N |
probably damaging |
Het |
| Nos2 |
A |
G |
11: 78,840,921 (GRCm39) |
T677A |
probably benign |
Het |
| Nup37 |
T |
A |
10: 88,010,791 (GRCm39) |
F257I |
possibly damaging |
Het |
| Or13c3 |
T |
C |
4: 52,855,764 (GRCm39) |
I250V |
probably benign |
Het |
| Or6k6 |
C |
T |
1: 173,944,770 (GRCm39) |
V271I |
probably benign |
Het |
| Pdzd2 |
C |
T |
15: 12,385,723 (GRCm39) |
D1016N |
possibly damaging |
Het |
| Pdzd2 |
A |
C |
15: 12,419,567 (GRCm39) |
M501R |
possibly damaging |
Het |
| Pitx1 |
T |
C |
13: 55,976,465 (GRCm39) |
K65E |
probably benign |
Het |
| Pla1a |
C |
T |
16: 38,229,972 (GRCm39) |
A247T |
probably benign |
Het |
| Prex2 |
T |
A |
1: 11,232,487 (GRCm39) |
S851R |
probably benign |
Het |
| Prss8 |
A |
G |
7: 127,528,979 (GRCm39) |
S26P |
probably damaging |
Het |
| Rasef |
A |
C |
4: 73,652,740 (GRCm39) |
L587R |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 17,027,684 (GRCm39) |
C1334S |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
| Serpina6 |
A |
G |
12: 103,613,146 (GRCm39) |
W385R |
probably damaging |
Het |
| Slc12a5 |
T |
C |
2: 164,821,263 (GRCm39) |
M249T |
probably benign |
Het |
| Srsf9 |
T |
A |
5: 115,470,651 (GRCm39) |
I117N |
probably damaging |
Het |
| Taf1 |
G |
T |
X: 100,586,665 (GRCm39) |
M313I |
possibly damaging |
Het |
| Tmem30a |
T |
C |
9: 79,684,567 (GRCm39) |
H95R |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Zfp236 |
A |
T |
18: 82,648,125 (GRCm39) |
V1012D |
probably damaging |
Het |
| Zfp612 |
C |
A |
8: 110,815,929 (GRCm39) |
Q379K |
probably damaging |
Het |
| Zfp930 |
C |
T |
8: 69,680,898 (GRCm39) |
Q198* |
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 |
|
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'- TGCATCAGAAGAGGACATCCG -3'
(R):5'- CATTTAGACCTGCCTGTGCC -3'
Sequencing Primer
(F):5'- GAAGAGGACATCCGCTCCTC -3'
(R):5'- CTCACTGCCAGGCGTATG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation