Incidental Mutation 'R4815:Ccdc171'
| ID |
369711 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc171
|
| Ensembl Gene |
ENSMUSG00000052407 |
| Gene Name |
coiled-coil domain containing 171 |
| Synonyms |
A330015D16Rik, 4930418J05Rik, 4930473A06Rik |
| MMRRC Submission |
042433-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R4815 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
83443782-83782907 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83713458 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1166
(S1166P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056520
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053414]
[ENSMUST00000125077]
[ENSMUST00000231339]
|
| AlphaFold |
E9Q1U1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053414
AA Change: S1166P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056520
Gene: ENSMUSG00000052407
AA Change: S1166P
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
48 |
298 |
N/A |
INTRINSIC |
|
coiled coil region
|
325 |
393 |
N/A |
INTRINSIC |
|
coiled coil region
|
453 |
527 |
N/A |
INTRINSIC |
|
coiled coil region
|
599 |
628 |
N/A |
INTRINSIC |
|
coiled coil region
|
653 |
712 |
N/A |
INTRINSIC |
|
low complexity region
|
728 |
743 |
N/A |
INTRINSIC |
|
low complexity region
|
783 |
797 |
N/A |
INTRINSIC |
|
coiled coil region
|
981 |
1145 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125077
|
| SMART Domains |
Protein: ENSMUSP00000116486
Gene: ENSMUSG00000052407
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
48 |
298 |
N/A |
INTRINSIC |
|
coiled coil region
|
325 |
393 |
N/A |
INTRINSIC |
|
coiled coil region
|
453 |
535 |
N/A |
INTRINSIC |
|
coiled coil region
|
607 |
636 |
N/A |
INTRINSIC |
|
coiled coil region
|
661 |
720 |
N/A |
INTRINSIC |
|
low complexity region
|
736 |
751 |
N/A |
INTRINSIC |
|
low complexity region
|
791 |
805 |
N/A |
INTRINSIC |
|
coiled coil region
|
989 |
1153 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183729
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231339
AA Change: S1174P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| Meta Mutation Damage Score |
0.2168 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
96% (76/79) |
| MGI Phenotype |
PHENOTYPE: Mice that either homozygous or heterozygous for an ENU-induced single point mutation exhibit decreased mature B cell number, decreased IgD level, and increased IgM level. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk2 |
A |
T |
18: 65,483,026 (GRCm39) |
N327K |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,730,410 (GRCm39) |
T675A |
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,106,296 (GRCm39) |
T1516A |
probably benign |
Het |
| Asb18 |
A |
T |
1: 89,942,147 (GRCm39) |
N51K |
probably damaging |
Het |
| C7 |
A |
G |
15: 5,088,887 (GRCm39) |
V18A |
probably benign |
Het |
| Caap1 |
A |
G |
4: 94,389,497 (GRCm39) |
V279A |
probably benign |
Het |
| Cacnb2 |
A |
G |
2: 14,879,591 (GRCm39) |
D21G |
probably damaging |
Het |
| Chgb |
A |
T |
2: 132,635,219 (GRCm39) |
H387L |
probably benign |
Het |
| Chp2 |
G |
A |
7: 121,820,123 (GRCm39) |
R91Q |
probably damaging |
Het |
| Chuk |
C |
A |
19: 44,065,686 (GRCm39) |
G703* |
probably null |
Het |
| Clmn |
T |
C |
12: 104,751,825 (GRCm39) |
D210G |
probably damaging |
Het |
| Cyp4f18 |
A |
G |
8: 72,749,839 (GRCm39) |
V270A |
possibly damaging |
Het |
| Dgcr2 |
A |
G |
16: 17,676,483 (GRCm39) |
|
probably benign |
Het |
| Diaph1 |
A |
T |
18: 38,028,256 (GRCm39) |
V411D |
unknown |
Het |
| Dkk2 |
C |
T |
3: 131,879,546 (GRCm39) |
A75V |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dnase2a |
T |
C |
8: 85,636,506 (GRCm39) |
V187A |
probably benign |
Het |
| Dusp19 |
A |
G |
2: 80,461,289 (GRCm39) |
M193V |
probably benign |
Het |
| Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
| Golgb1 |
A |
T |
16: 36,733,477 (GRCm39) |
Q908L |
possibly damaging |
Het |
| Hsp90aa1 |
T |
C |
12: 110,661,660 (GRCm39) |
M119V |
possibly damaging |
Het |
| Ice2 |
C |
T |
9: 69,314,400 (GRCm39) |
R50C |
probably damaging |
Het |
| Ifi208 |
A |
T |
1: 173,510,403 (GRCm39) |
E186V |
probably damaging |
Het |
| Ift122 |
A |
G |
6: 115,858,517 (GRCm39) |
K166E |
possibly damaging |
Het |
| Jcad |
T |
A |
18: 4,675,223 (GRCm39) |
L995Q |
possibly damaging |
Het |
| Kcnc4 |
A |
T |
3: 107,365,582 (GRCm39) |
C209S |
probably benign |
Het |
| Kmt2a |
G |
A |
9: 44,732,553 (GRCm39) |
|
probably benign |
Het |
| Lrriq1 |
T |
A |
10: 102,980,739 (GRCm39) |
L1465F |
probably benign |
Het |
| Map3k7 |
C |
A |
4: 31,988,592 (GRCm39) |
T247N |
probably damaging |
Het |
| Mctp2 |
T |
G |
7: 71,909,097 (GRCm39) |
Q72P |
possibly damaging |
Het |
| Miga1 |
T |
C |
3: 151,996,443 (GRCm39) |
Y335C |
probably benign |
Het |
| Ms4a14 |
A |
T |
19: 11,291,641 (GRCm39) |
N19K |
probably benign |
Het |
| Mylk |
G |
A |
16: 34,715,295 (GRCm39) |
R541Q |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,659,413 (GRCm39) |
T735A |
probably benign |
Het |
| Nlgn1 |
T |
A |
3: 25,490,194 (GRCm39) |
H511L |
probably damaging |
Het |
| Nlrp4a |
A |
T |
7: 26,150,233 (GRCm39) |
E613D |
probably benign |
Het |
| Nuf2 |
A |
G |
1: 169,338,037 (GRCm39) |
S247P |
probably damaging |
Het |
| Ocstamp |
A |
G |
2: 165,240,102 (GRCm39) |
V28A |
probably benign |
Het |
| Odf2 |
A |
C |
2: 29,792,252 (GRCm39) |
E155D |
possibly damaging |
Het |
| Odr4 |
A |
G |
1: 150,250,597 (GRCm39) |
C294R |
probably damaging |
Het |
| Or2ag13 |
G |
A |
7: 106,473,444 (GRCm39) |
P3S |
probably benign |
Het |
| Or8s16 |
T |
C |
15: 98,210,561 (GRCm39) |
N290S |
probably damaging |
Het |
| Otud7a |
T |
C |
7: 63,379,658 (GRCm39) |
|
probably null |
Het |
| Pacsin2 |
A |
T |
15: 83,269,260 (GRCm39) |
D11E |
probably damaging |
Het |
| Pcdhga5 |
G |
A |
18: 37,828,247 (GRCm39) |
V232I |
probably damaging |
Het |
| Plcb3 |
A |
G |
19: 6,940,352 (GRCm39) |
I439T |
possibly damaging |
Het |
| Rag1 |
A |
G |
2: 101,473,861 (GRCm39) |
V427A |
probably damaging |
Het |
| Ranbp10 |
A |
T |
8: 106,552,757 (GRCm39) |
C128* |
probably null |
Het |
| Rbm8a2 |
A |
G |
1: 175,806,024 (GRCm39) |
V151A |
probably damaging |
Het |
| S100pbp |
A |
G |
4: 129,044,726 (GRCm39) |
|
probably benign |
Het |
| Serpinb5 |
G |
T |
1: 106,800,069 (GRCm39) |
L86F |
probably damaging |
Het |
| Sgo2b |
T |
C |
8: 64,384,448 (GRCm39) |
I183V |
probably benign |
Het |
| Slc25a25 |
A |
T |
2: 32,310,422 (GRCm39) |
D112E |
probably damaging |
Het |
| Slc30a5 |
C |
T |
13: 100,950,218 (GRCm39) |
V103I |
probably damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,758,009 (GRCm39) |
I183F |
probably benign |
Het |
| Srrm4 |
T |
A |
5: 116,613,249 (GRCm39) |
K141N |
unknown |
Het |
| Tbc1d20 |
T |
C |
2: 152,153,909 (GRCm39) |
|
probably benign |
Het |
| Tdpoz6 |
C |
T |
3: 93,599,593 (GRCm39) |
V259M |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,078,759 (GRCm39) |
L1498P |
probably damaging |
Het |
| Tgfbi |
T |
C |
13: 56,779,933 (GRCm39) |
M494T |
probably benign |
Het |
| Tox |
A |
G |
4: 6,823,033 (GRCm39) |
S95P |
probably benign |
Het |
| Tpr |
G |
A |
1: 150,274,359 (GRCm39) |
V163I |
probably benign |
Het |
| Trpm7 |
A |
G |
2: 126,700,412 (GRCm39) |
S2P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,546,429 (GRCm39) |
M32328T |
probably damaging |
Het |
| Vps39 |
A |
T |
2: 120,169,040 (GRCm39) |
N289K |
probably benign |
Het |
| Xdh |
C |
T |
17: 74,213,210 (GRCm39) |
A847T |
probably damaging |
Het |
| Xndc1 |
G |
A |
7: 101,722,523 (GRCm39) |
G63R |
probably null |
Het |
| Ythdc2 |
A |
G |
18: 45,018,307 (GRCm39) |
S1330G |
probably benign |
Het |
| Zc3h14 |
C |
G |
12: 98,719,107 (GRCm39) |
D157E |
probably damaging |
Het |
| Zc3h7b |
A |
T |
15: 81,677,864 (GRCm39) |
K949N |
probably damaging |
Het |
| Zp3r |
A |
T |
1: 130,526,649 (GRCm39) |
Y185N |
probably damaging |
Het |
|
| Other mutations in Ccdc171 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00232:Ccdc171
|
APN |
4 |
83,600,561 (GRCm39) |
nonsense |
probably null |
|
|
IGL00707:Ccdc171
|
APN |
4 |
83,599,392 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL00907:Ccdc171
|
APN |
4 |
83,782,486 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01113:Ccdc171
|
APN |
4 |
83,580,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01669:Ccdc171
|
APN |
4 |
83,599,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01696:Ccdc171
|
APN |
4 |
83,573,815 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02006:Ccdc171
|
APN |
4 |
83,713,479 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02582:Ccdc171
|
APN |
4 |
83,661,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03019:Ccdc171
|
APN |
4 |
83,713,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03144:Ccdc171
|
APN |
4 |
83,736,327 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03350:Ccdc171
|
APN |
4 |
83,599,615 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL03377:Ccdc171
|
APN |
4 |
83,581,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4131001:Ccdc171
|
UTSW |
4 |
83,579,946 (GRCm39) |
|
|
|
|
PIT4445001:Ccdc171
|
UTSW |
4 |
83,579,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0219:Ccdc171
|
UTSW |
4 |
83,614,678 (GRCm39) |
splice site |
probably benign |
|
|
R0284:Ccdc171
|
UTSW |
4 |
83,467,975 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0355:Ccdc171
|
UTSW |
4 |
83,553,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1248:Ccdc171
|
UTSW |
4 |
83,599,481 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1278:Ccdc171
|
UTSW |
4 |
83,580,095 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1495:Ccdc171
|
UTSW |
4 |
83,599,332 (GRCm39) |
nonsense |
probably null |
|
|
R1741:Ccdc171
|
UTSW |
4 |
83,539,076 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1742:Ccdc171
|
UTSW |
4 |
83,599,521 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1789:Ccdc171
|
UTSW |
4 |
83,473,045 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1801:Ccdc171
|
UTSW |
4 |
83,465,132 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4204:Ccdc171
|
UTSW |
4 |
83,599,392 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4245:Ccdc171
|
UTSW |
4 |
83,473,045 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4502:Ccdc171
|
UTSW |
4 |
83,782,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4503:Ccdc171
|
UTSW |
4 |
83,782,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4533:Ccdc171
|
UTSW |
4 |
83,575,579 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4589:Ccdc171
|
UTSW |
4 |
83,467,855 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4782:Ccdc171
|
UTSW |
4 |
83,599,253 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4868:Ccdc171
|
UTSW |
4 |
83,612,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4926:Ccdc171
|
UTSW |
4 |
83,476,829 (GRCm39) |
intron |
probably benign |
|
|
R4937:Ccdc171
|
UTSW |
4 |
83,467,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5120:Ccdc171
|
UTSW |
4 |
83,476,763 (GRCm39) |
intron |
probably benign |
|
|
R5185:Ccdc171
|
UTSW |
4 |
83,581,892 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5210:Ccdc171
|
UTSW |
4 |
83,473,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5243:Ccdc171
|
UTSW |
4 |
83,522,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5484:Ccdc171
|
UTSW |
4 |
83,612,199 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5574:Ccdc171
|
UTSW |
4 |
83,611,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6053:Ccdc171
|
UTSW |
4 |
83,713,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6135:Ccdc171
|
UTSW |
4 |
83,473,087 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6140:Ccdc171
|
UTSW |
4 |
83,614,554 (GRCm39) |
nonsense |
probably null |
|
|
R6339:Ccdc171
|
UTSW |
4 |
83,661,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6452:Ccdc171
|
UTSW |
4 |
83,782,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7111:Ccdc171
|
UTSW |
4 |
83,611,998 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7352:Ccdc171
|
UTSW |
4 |
83,736,260 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7390:Ccdc171
|
UTSW |
4 |
83,736,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7626:Ccdc171
|
UTSW |
4 |
83,499,012 (GRCm39) |
nonsense |
probably null |
|
|
R7686:Ccdc171
|
UTSW |
4 |
83,575,556 (GRCm39) |
missense |
unknown |
|
|
R7705:Ccdc171
|
UTSW |
4 |
83,476,193 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7934:Ccdc171
|
UTSW |
4 |
83,614,492 (GRCm39) |
nonsense |
probably null |
|
|
R8058:Ccdc171
|
UTSW |
4 |
83,499,003 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8114:Ccdc171
|
UTSW |
4 |
83,614,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8253:Ccdc171
|
UTSW |
4 |
83,661,207 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8257:Ccdc171
|
UTSW |
4 |
83,614,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8378:Ccdc171
|
UTSW |
4 |
83,782,490 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R8501:Ccdc171
|
UTSW |
4 |
83,581,895 (GRCm39) |
nonsense |
probably null |
|
|
R8517:Ccdc171
|
UTSW |
4 |
83,661,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8697:Ccdc171
|
UTSW |
4 |
83,600,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9149:Ccdc171
|
UTSW |
4 |
83,612,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9430:Ccdc171
|
UTSW |
4 |
83,522,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9642:Ccdc171
|
UTSW |
4 |
83,599,525 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9686:Ccdc171
|
UTSW |
4 |
83,467,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
U24488:Ccdc171
|
UTSW |
4 |
83,579,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ccdc171
|
UTSW |
4 |
83,713,467 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCATTTCAAGCAGGAGGATGC -3'
(R):5'- TTCACAATACTCCAAGGCTTCC -3'
Sequencing Primer
(F):5'- CAGGAGGATGCTTTTTCTTCTTAAC -3'
(R):5'- ACAATACTCCAAGGCTTCCATTCTC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation