Incidental Mutation 'U24488:Ccdc171'
| ID |
509858 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc171
|
| Ensembl Gene |
ENSMUSG00000052407 |
| Gene Name |
coiled-coil domain containing 171 |
| Synonyms |
A330015D16Rik, 4930418J05Rik, 4930473A06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
U24488 (G0')
|
| Quality Score |
223.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
83443782-83782907 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83579954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 567
(E567V)
|
| 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: E567V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000056520
Gene: ENSMUSG00000052407
AA Change: E567V
| 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 |
possibly damaging
Transcript: ENSMUST00000231339
AA Change: E575V
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.0%
|
| Validation Efficiency |
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd36 |
A |
G |
11: 5,580,772 (GRCm39) |
Y922C |
probably damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,235,673 (GRCm39) |
T1185A |
probably benign |
Het |
| Atf7ip2 |
A |
G |
16: 10,022,537 (GRCm39) |
N72S |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,734,636 (GRCm39) |
D455G |
probably benign |
Het |
| Chmp1b |
T |
A |
18: 67,338,945 (GRCm39) |
L125Q |
probably damaging |
Het |
| Cnr1 |
T |
A |
4: 33,944,927 (GRCm39) |
N438K |
probably benign |
Het |
| Cplane1 |
G |
T |
15: 8,211,694 (GRCm39) |
G345C |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,573,795 (GRCm39) |
T2091M |
probably damaging |
Het |
| Cyp4a29 |
A |
T |
4: 115,108,204 (GRCm39) |
H342L |
possibly damaging |
Het |
| Dnah10 |
G |
A |
5: 124,891,044 (GRCm39) |
D3212N |
probably damaging |
Het |
| Dnah2 |
G |
A |
11: 69,374,648 (GRCm39) |
T1447I |
probably damaging |
Het |
| F11 |
A |
G |
8: 45,695,349 (GRCm39) |
S540P |
probably benign |
Het |
| Fcrl6 |
T |
A |
1: 172,426,437 (GRCm39) |
H120L |
probably damaging |
Het |
| Frmd6 |
T |
C |
12: 70,940,653 (GRCm39) |
S433P |
probably damaging |
Het |
| Fundc1 |
G |
T |
X: 17,434,342 (GRCm39) |
A64E |
probably damaging |
Het |
| Garin2 |
A |
T |
12: 78,761,811 (GRCm39) |
K158N |
probably damaging |
Het |
| Grid1 |
A |
G |
14: 35,302,534 (GRCm39) |
E933G |
probably benign |
Het |
| Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
| Hoxb3 |
C |
A |
11: 96,235,456 (GRCm39) |
Q128K |
probably benign |
Het |
| Il6st |
C |
T |
13: 112,631,168 (GRCm39) |
T369M |
possibly damaging |
Het |
| Itk |
A |
C |
11: 46,228,971 (GRCm39) |
M403R |
probably damaging |
Het |
| Katnip |
A |
T |
7: 125,369,853 (GRCm39) |
D147V |
probably damaging |
Het |
| Kif2c |
T |
C |
4: 117,039,639 (GRCm39) |
Q17R |
probably benign |
Het |
| Kifap3 |
T |
C |
1: 163,610,604 (GRCm39) |
I28T |
possibly damaging |
Het |
| Kit |
A |
T |
5: 75,783,674 (GRCm39) |
R384* |
probably null |
Het |
| Ksr1 |
T |
A |
11: 78,938,267 (GRCm39) |
I42F |
probably damaging |
Het |
| Lhcgr |
T |
A |
17: 89,079,513 (GRCm39) |
|
probably null |
Het |
| Lrrc36 |
C |
T |
8: 106,176,384 (GRCm39) |
H253Y |
probably benign |
Het |
| Mad1l1 |
T |
A |
5: 140,300,840 (GRCm39) |
N19Y |
probably damaging |
Het |
| Marf1 |
A |
T |
16: 13,950,230 (GRCm39) |
L1022* |
probably null |
Het |
| Mical3 |
T |
G |
6: 120,978,457 (GRCm39) |
Q225P |
possibly damaging |
Het |
| Minar1 |
C |
A |
9: 89,485,100 (GRCm39) |
G99V |
probably damaging |
Het |
| Myt1l |
T |
A |
12: 29,876,895 (GRCm39) |
M182K |
unknown |
Het |
| Nepro |
A |
G |
16: 44,554,949 (GRCm39) |
T342A |
probably benign |
Het |
| Nlrp5 |
A |
T |
7: 23,117,653 (GRCm39) |
D459V |
possibly damaging |
Het |
| Nrcam |
C |
T |
12: 44,584,042 (GRCm39) |
P39S |
probably damaging |
Het |
| Or2ag1b |
A |
T |
7: 106,288,296 (GRCm39) |
I214N |
probably damaging |
Het |
| Ostm1 |
A |
G |
10: 42,555,227 (GRCm39) |
D83G |
possibly damaging |
Het |
| Otoa |
A |
T |
7: 120,717,763 (GRCm39) |
|
probably null |
Het |
| Pi4ka |
A |
G |
16: 17,143,040 (GRCm39) |
I824T |
probably damaging |
Het |
| Plec |
C |
T |
15: 76,061,930 (GRCm39) |
R2534H |
probably benign |
Het |
| Plin2 |
A |
G |
4: 86,580,314 (GRCm39) |
V60A |
probably damaging |
Het |
| Rps6ka4 |
A |
G |
19: 6,809,724 (GRCm39) |
L367P |
probably damaging |
Het |
| Senp7 |
A |
G |
16: 56,005,182 (GRCm39) |
N912D |
probably damaging |
Het |
| Slc25a21 |
G |
T |
12: 56,785,282 (GRCm39) |
N198K |
possibly damaging |
Het |
| Slc4a10 |
A |
G |
2: 61,877,002 (GRCm39) |
D5G |
probably benign |
Het |
| Tex16 |
T |
C |
X: 111,028,815 (GRCm39) |
V438A |
probably benign |
Het |
| Tmem37 |
T |
C |
1: 119,995,684 (GRCm39) |
Y131C |
probably benign |
Het |
| Top2a |
A |
C |
11: 98,913,252 (GRCm39) |
M60R |
probably damaging |
Het |
| Ush2a |
C |
T |
1: 188,162,963 (GRCm39) |
T1015I |
probably damaging |
Het |
| Vmn1r172 |
A |
T |
7: 23,359,171 (GRCm39) |
I19F |
probably benign |
Het |
| Vmn1r230 |
A |
C |
17: 21,067,014 (GRCm39) |
I68L |
probably benign |
Het |
| Vmn2r45 |
A |
C |
7: 8,475,361 (GRCm39) |
C556G |
probably damaging |
Het |
| Vmn2r54 |
A |
G |
7: 12,349,356 (GRCm39) |
I742T |
possibly damaging |
Het |
| Vps13c |
A |
G |
9: 67,813,198 (GRCm39) |
K960E |
probably benign |
Het |
| Wdcp |
T |
A |
12: 4,900,405 (GRCm39) |
V87E |
probably damaging |
Het |
| Wiz |
C |
T |
17: 32,606,649 (GRCm39) |
E29K |
probably damaging |
Het |
| Wnk3 |
C |
T |
X: 149,992,456 (GRCm39) |
T298I |
probably damaging |
Het |
| Yif1b |
A |
C |
7: 28,943,594 (GRCm39) |
Q56P |
probably benign |
Het |
| Zbtb25 |
A |
G |
12: 76,396,014 (GRCm39) |
W403R |
probably benign |
Het |
| Zcrb1 |
A |
T |
15: 93,285,515 (GRCm39) |
S155R |
probably damaging |
Het |
| Zmym4 |
A |
T |
4: 126,819,453 (GRCm39) |
I150K |
possibly 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 |
|
R4815:Ccdc171
|
UTSW |
4 |
83,713,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
Z1176:Ccdc171
|
UTSW |
4 |
83,713,467 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGTTGTGTTTTGAATACCAGTC -3'
(R):5'- TGGTGCCTGAGGACAGTTAC -3'
Sequencing Primer
(F):5'- TTGAATACCAGTCTAAGAAGTACCC -3'
(R):5'- GAGGACAGTTACCTTCTCATTAGC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation