Incidental Mutation 'R5015:Ttc21a'
ID |
385512 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc21a
|
Ensembl Gene |
ENSMUSG00000032514 |
Gene Name |
tetratricopeptide repeat domain 21A |
Synonyms |
Thm2, 4921538N17Rik |
MMRRC Submission |
042606-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.187)
|
Stock # |
R5015 (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 T
at 119795195 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 1072
(E1072V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035100
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035100]
[ENSMUST00000177637]
|
AlphaFold |
Q8C0S4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035100
AA Change: E1072V
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000035100 Gene: ENSMUSG00000032514 AA Change: E1072V
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 |
|
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 91.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
T |
A |
8: 41,207,671 (GRCm39) |
F312L |
probably benign |
Het |
Adprm |
A |
G |
11: 66,932,856 (GRCm39) |
F18L |
possibly damaging |
Het |
Ampd1 |
T |
G |
3: 103,006,981 (GRCm39) |
N735K |
possibly damaging |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
Atp1a4 |
T |
C |
1: 172,081,649 (GRCm39) |
M168V |
probably damaging |
Het |
Bcl6 |
G |
A |
16: 23,793,600 (GRCm39) |
H116Y |
probably damaging |
Het |
Bmpr2 |
T |
A |
1: 59,890,383 (GRCm39) |
N338K |
probably damaging |
Het |
Bms1 |
A |
T |
6: 118,381,224 (GRCm39) |
Y697* |
probably null |
Het |
Ccdc33 |
A |
C |
9: 58,025,918 (GRCm39) |
F37C |
probably damaging |
Het |
Ccdc60 |
T |
A |
5: 116,426,507 (GRCm39) |
Q30L |
probably benign |
Het |
Cndp1 |
C |
A |
18: 84,650,036 (GRCm39) |
R219L |
probably damaging |
Het |
Cstdc4 |
T |
C |
16: 36,006,837 (GRCm39) |
|
probably null |
Het |
Daam2 |
C |
A |
17: 49,783,550 (GRCm39) |
D627Y |
probably damaging |
Het |
Dffb |
T |
C |
4: 154,057,416 (GRCm39) |
D87G |
possibly damaging |
Het |
Dnah2 |
T |
G |
11: 69,388,708 (GRCm39) |
T892P |
possibly damaging |
Het |
Dqx1 |
A |
G |
6: 83,043,092 (GRCm39) |
T610A |
probably benign |
Het |
Dspp |
A |
T |
5: 104,324,926 (GRCm39) |
I430L |
possibly damaging |
Het |
Dytn |
T |
A |
1: 63,672,854 (GRCm39) |
K516N |
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fmnl2 |
T |
A |
2: 52,993,773 (GRCm39) |
N389K |
possibly damaging |
Het |
Fn1 |
G |
A |
1: 71,665,336 (GRCm39) |
T927I |
probably damaging |
Het |
Foxn1 |
T |
C |
11: 78,261,989 (GRCm39) |
K127E |
probably damaging |
Het |
Fpr-rs6 |
A |
G |
17: 20,402,608 (GRCm39) |
F251S |
probably damaging |
Het |
Frrs1 |
A |
G |
3: 116,672,088 (GRCm39) |
D62G |
probably damaging |
Het |
Fut10 |
T |
A |
8: 31,726,148 (GRCm39) |
V301D |
probably damaging |
Het |
Gk5 |
A |
G |
9: 96,059,470 (GRCm39) |
|
probably null |
Het |
Glipr1l1 |
T |
A |
10: 111,914,279 (GRCm39) |
N213K |
probably benign |
Het |
Gm1110 |
A |
G |
9: 26,793,162 (GRCm39) |
F538S |
probably benign |
Het |
Gm7347 |
T |
A |
5: 26,262,366 (GRCm39) |
T52S |
probably benign |
Het |
Gsap |
T |
C |
5: 21,427,406 (GRCm39) |
I178T |
probably damaging |
Het |
H1f9 |
C |
A |
11: 94,858,928 (GRCm39) |
N74K |
probably damaging |
Het |
Hcn1 |
A |
T |
13: 117,739,556 (GRCm39) |
Q106L |
unknown |
Het |
Isg20l2 |
G |
T |
3: 87,839,288 (GRCm39) |
L166F |
possibly damaging |
Het |
Kcnq3 |
T |
A |
15: 65,876,612 (GRCm39) |
E510D |
probably damaging |
Het |
Kif26b |
G |
T |
1: 178,755,895 (GRCm39) |
R2003L |
probably damaging |
Het |
Kiss1r |
T |
C |
10: 79,754,641 (GRCm39) |
V45A |
probably damaging |
Het |
Krt14 |
G |
A |
11: 100,098,032 (GRCm39) |
R84* |
probably null |
Het |
Mbd5 |
T |
C |
2: 49,148,208 (GRCm39) |
M806T |
possibly damaging |
Het |
Mdga1 |
A |
T |
17: 30,058,847 (GRCm39) |
I13N |
possibly damaging |
Het |
Mfsd4b5 |
T |
C |
10: 39,850,758 (GRCm39) |
K73E |
probably benign |
Het |
Mterf2 |
C |
T |
10: 84,955,596 (GRCm39) |
G343R |
probably benign |
Het |
Mto1 |
T |
A |
9: 78,368,903 (GRCm39) |
F522I |
probably benign |
Het |
Myo18b |
T |
C |
5: 112,937,923 (GRCm39) |
E1734G |
probably damaging |
Het |
Myoz1 |
T |
C |
14: 20,703,787 (GRCm39) |
T53A |
probably benign |
Het |
Naxd |
T |
C |
8: 11,563,032 (GRCm39) |
L324P |
probably damaging |
Het |
Nos1 |
T |
A |
5: 118,005,334 (GRCm39) |
V18D |
probably damaging |
Het |
Nova1 |
T |
C |
12: 46,863,738 (GRCm39) |
T71A |
unknown |
Het |
Or10v5 |
T |
C |
19: 11,805,482 (GRCm39) |
R303G |
probably benign |
Het |
Or10z1 |
A |
G |
1: 174,078,448 (GRCm39) |
L15S |
possibly damaging |
Het |
Or1e29 |
C |
G |
11: 73,668,007 (GRCm39) |
V49L |
probably benign |
Het |
Or2j6 |
T |
C |
7: 139,980,083 (GRCm39) |
D292G |
probably damaging |
Het |
Or52b1 |
A |
G |
7: 104,978,811 (GRCm39) |
V196A |
possibly damaging |
Het |
Otof |
T |
A |
5: 30,540,238 (GRCm39) |
Y981F |
probably damaging |
Het |
Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
Pex1 |
A |
G |
5: 3,670,597 (GRCm39) |
K7E |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,120,946 (GRCm39) |
S73P |
possibly damaging |
Het |
Plxnb1 |
T |
A |
9: 108,929,498 (GRCm39) |
I118N |
possibly damaging |
Het |
Prcc |
T |
C |
3: 87,779,560 (GRCm39) |
D158G |
probably damaging |
Het |
Ptpn7 |
C |
A |
1: 135,066,877 (GRCm39) |
R245S |
possibly damaging |
Het |
Ptpre |
C |
T |
7: 135,270,861 (GRCm39) |
H346Y |
probably benign |
Het |
Pwp2 |
A |
G |
10: 78,018,527 (GRCm39) |
C86R |
probably benign |
Het |
Rfng |
T |
G |
11: 120,673,876 (GRCm39) |
D178A |
probably damaging |
Het |
Rhpn1 |
T |
C |
15: 75,580,090 (GRCm39) |
I51T |
probably damaging |
Het |
Rnasel |
G |
T |
1: 153,629,843 (GRCm39) |
E120* |
probably null |
Het |
Sall2 |
T |
G |
14: 52,553,112 (GRCm39) |
S26R |
possibly damaging |
Het |
Scn10a |
A |
G |
9: 119,451,987 (GRCm39) |
V1312A |
possibly damaging |
Het |
Sdk2 |
C |
A |
11: 113,684,587 (GRCm39) |
R1958L |
probably damaging |
Het |
Septin4 |
C |
T |
11: 87,458,043 (GRCm39) |
S139F |
possibly damaging |
Het |
Slc52a2 |
T |
A |
15: 76,424,751 (GRCm39) |
C330S |
probably damaging |
Het |
Smarca2 |
T |
A |
19: 26,668,788 (GRCm39) |
I987N |
possibly damaging |
Het |
Srrt |
A |
T |
5: 137,294,271 (GRCm39) |
Y486N |
probably damaging |
Het |
Stat5b |
A |
T |
11: 100,695,831 (GRCm39) |
N50K |
possibly damaging |
Het |
Strip2 |
T |
A |
6: 29,931,265 (GRCm39) |
D405E |
probably benign |
Het |
Tcstv6 |
T |
A |
13: 120,298,474 (GRCm39) |
|
probably null |
Het |
Tnc |
A |
T |
4: 63,924,739 (GRCm39) |
D986E |
probably damaging |
Het |
Tph2 |
T |
C |
10: 114,915,621 (GRCm39) |
N473S |
probably benign |
Het |
Tpp1 |
C |
T |
7: 105,401,232 (GRCm39) |
|
probably benign |
Het |
Trpm3 |
T |
C |
19: 22,689,076 (GRCm39) |
Y2H |
probably damaging |
Het |
Zfat |
T |
C |
15: 68,050,762 (GRCm39) |
D753G |
probably damaging |
Het |
Zmym2 |
T |
A |
14: 57,159,051 (GRCm39) |
S609T |
probably damaging |
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 |
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 |
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'- TCTTTTGTTCAGTAGAAGGGAGAC -3'
(R):5'- AGTAGCTTCTCTGCAGTGCG -3'
Sequencing Primer
(F):5'- GAGACAGAGCAGCCTCCAG -3'
(R):5'- CTTTCTACTGGCAGAGCT -3'
|
Posted On |
2016-05-10 |