Incidental Mutation 'R5243:Ccdc171'
ID |
400973 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc171
|
Ensembl Gene |
ENSMUSG00000052407 |
Gene Name |
coiled-coil domain containing 171 |
Synonyms |
A330015D16Rik, 4930418J05Rik, 4930473A06Rik |
MMRRC Submission |
042814-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R5243 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
83443782-83782907 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 83522344 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 336
(N336S)
|
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: N336S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000056520 Gene: ENSMUSG00000052407 AA Change: N336S
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 |
possibly damaging
Transcript: ENSMUST00000125077
AA Change: N336S
PolyPhen 2
Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000116486 Gene: ENSMUSG00000052407 AA Change: N336S
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: N336S
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
Meta Mutation Damage Score |
0.0658 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
95% (62/65) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930447C04Rik |
A |
T |
12: 72,956,543 (GRCm39) |
|
probably null |
Het |
Aatk |
A |
G |
11: 119,907,594 (GRCm39) |
L78P |
probably damaging |
Het |
Acadsb |
T |
A |
7: 131,045,972 (GRCm39) |
I412K |
probably damaging |
Het |
Acer3 |
T |
C |
7: 97,867,277 (GRCm39) |
R246G |
possibly damaging |
Het |
Atp1a3 |
T |
A |
7: 24,693,994 (GRCm39) |
I387F |
probably damaging |
Het |
Atp6v1b2 |
A |
T |
8: 69,556,391 (GRCm39) |
M300L |
probably benign |
Het |
Aurkb |
T |
A |
11: 68,936,752 (GRCm39) |
|
probably benign |
Het |
Card10 |
C |
A |
15: 78,664,872 (GRCm39) |
G694V |
possibly damaging |
Het |
Copg2 |
T |
C |
6: 30,750,626 (GRCm39) |
T720A |
probably benign |
Het |
Coro2a |
A |
T |
4: 46,545,620 (GRCm39) |
W272R |
probably damaging |
Het |
Cpne6 |
T |
A |
14: 55,750,204 (GRCm39) |
C112S |
probably damaging |
Het |
Ddx21 |
A |
G |
10: 62,437,992 (GRCm39) |
M1T |
probably null |
Het |
Dohh |
A |
G |
10: 81,223,203 (GRCm39) |
R161G |
probably benign |
Het |
Dsc1 |
A |
C |
18: 20,232,216 (GRCm39) |
V264G |
probably damaging |
Het |
E4f1 |
A |
T |
17: 24,666,292 (GRCm39) |
C198S |
probably damaging |
Het |
Evpl |
T |
A |
11: 116,113,795 (GRCm39) |
E1298D |
probably damaging |
Het |
Grid2ip |
A |
T |
5: 143,363,260 (GRCm39) |
I246F |
probably damaging |
Het |
H2-M1 |
A |
G |
17: 36,982,193 (GRCm39) |
F136S |
possibly damaging |
Het |
Hck |
T |
C |
2: 152,986,412 (GRCm39) |
V387A |
probably damaging |
Het |
Hdac1 |
G |
A |
4: 129,410,646 (GRCm39) |
|
probably benign |
Het |
Hydin |
A |
C |
8: 111,232,380 (GRCm39) |
Q1633P |
possibly damaging |
Het |
Igkv12-41 |
A |
G |
6: 69,835,686 (GRCm39) |
I22T |
probably damaging |
Het |
Ints3 |
CA |
CAA |
3: 90,308,451 (GRCm39) |
|
probably null |
Het |
Itpr2 |
C |
G |
6: 146,089,044 (GRCm39) |
W2188C |
probably damaging |
Het |
Kcnt1 |
A |
G |
2: 25,798,086 (GRCm39) |
E899G |
probably damaging |
Het |
Lgals8 |
C |
A |
13: 12,469,645 (GRCm39) |
V12L |
probably benign |
Het |
Lgr6 |
T |
C |
1: 135,037,010 (GRCm39) |
|
probably benign |
Het |
Lrrc8b |
T |
G |
5: 105,628,812 (GRCm39) |
I386S |
probably damaging |
Het |
Mks1 |
T |
C |
11: 87,747,504 (GRCm39) |
|
probably benign |
Het |
Mon1b |
A |
G |
8: 114,364,553 (GRCm39) |
D110G |
possibly damaging |
Het |
Mpdz |
G |
T |
4: 81,225,116 (GRCm39) |
A1437E |
probably damaging |
Het |
Nbeal1 |
T |
A |
1: 60,309,487 (GRCm39) |
N1753K |
probably damaging |
Het |
Nceh1 |
T |
C |
3: 27,295,837 (GRCm39) |
V366A |
probably damaging |
Het |
Ncor1 |
A |
T |
11: 62,229,788 (GRCm39) |
D893E |
probably damaging |
Het |
Npc1 |
T |
A |
18: 12,331,688 (GRCm39) |
|
probably benign |
Het |
Or1j15 |
T |
C |
2: 36,458,655 (GRCm39) |
L15P |
probably damaging |
Het |
Or9i1b |
A |
G |
19: 13,897,025 (GRCm39) |
I214V |
probably damaging |
Het |
Podxl2 |
T |
C |
6: 88,826,356 (GRCm39) |
T317A |
probably benign |
Het |
Prl8a9 |
T |
G |
13: 27,746,446 (GRCm39) |
Q54P |
probably damaging |
Het |
Prpf31 |
C |
T |
7: 3,641,753 (GRCm39) |
R351* |
probably null |
Het |
Pspc1 |
C |
T |
14: 57,001,648 (GRCm39) |
G242D |
probably damaging |
Het |
Rbmxl2 |
G |
C |
7: 106,809,044 (GRCm39) |
G110R |
probably damaging |
Het |
Rif1 |
T |
A |
2: 52,001,836 (GRCm39) |
H1763Q |
possibly damaging |
Het |
Rpusd3 |
T |
C |
6: 113,395,025 (GRCm39) |
T85A |
probably benign |
Het |
Rttn |
A |
G |
18: 89,126,187 (GRCm39) |
I1853M |
possibly damaging |
Het |
Sacs |
T |
A |
14: 61,443,406 (GRCm39) |
C1817* |
probably null |
Het |
Scrib |
A |
T |
15: 75,937,101 (GRCm39) |
V335E |
probably benign |
Het |
Sdk2 |
A |
G |
11: 113,715,912 (GRCm39) |
L1549P |
possibly damaging |
Het |
Slc25a11 |
C |
T |
11: 70,536,924 (GRCm39) |
G44S |
probably damaging |
Het |
Slc6a3 |
A |
G |
13: 73,719,570 (GRCm39) |
Y533C |
possibly damaging |
Het |
Slc7a5 |
A |
G |
8: 122,623,274 (GRCm39) |
V191A |
probably damaging |
Het |
Son |
A |
G |
16: 91,451,621 (GRCm39) |
K123E |
probably damaging |
Het |
Tcstv3 |
T |
A |
13: 120,779,125 (GRCm39) |
M8K |
probably benign |
Het |
Tie1 |
A |
G |
4: 118,339,548 (GRCm39) |
V411A |
probably damaging |
Het |
Upk3bl |
C |
A |
5: 136,088,977 (GRCm39) |
D1E |
possibly damaging |
Het |
Vmn2r5 |
T |
C |
3: 64,411,497 (GRCm39) |
D357G |
probably damaging |
Het |
Vmn2r75 |
T |
C |
7: 85,813,447 (GRCm39) |
N452D |
probably damaging |
Het |
Wnk2 |
T |
A |
13: 49,226,054 (GRCm39) |
N1043I |
possibly damaging |
Het |
Zfp407 |
A |
T |
18: 84,579,216 (GRCm39) |
H632Q |
probably damaging |
Het |
Zfp423 |
T |
C |
8: 88,500,275 (GRCm39) |
K1174R |
probably benign |
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 |
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'- TTGGTTCCCTGAGAGTGTCCTC -3'
(R):5'- GGACATTAATAGCAGCTCAGTATTC -3'
Sequencing Primer
(F):5'- TCCTCCTTCCCAGAGGTGAAG -3'
(R):5'- GCAGCTCAGTATTCGTATACAAAGTG -3'
|
Posted On |
2016-07-06 |