Incidental Mutation 'R5574:Ccdc171'
| ID |
437095 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc171
|
| Ensembl Gene |
ENSMUSG00000052407 |
| Gene Name |
coiled-coil domain containing 171 |
| Synonyms |
A330015D16Rik, 4930418J05Rik, 4930473A06Rik |
| MMRRC Submission |
043129-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R5574 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
83443782-83782907 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83611990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 895
(N895I)
|
| 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: N895I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056520
Gene: ENSMUSG00000052407
AA Change: N895I
| 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 |
probably damaging
Transcript: ENSMUST00000231339
AA Change: N903I
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.0961 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| Validation Efficiency |
99% (68/69) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
T |
A |
14: 59,380,205 (GRCm39) |
N31I |
possibly damaging |
Het |
| Acvr1b |
T |
A |
15: 101,099,958 (GRCm39) |
M304K |
probably benign |
Het |
| Adamts1 |
G |
T |
16: 85,596,530 (GRCm39) |
D106E |
probably damaging |
Het |
| Atosa |
A |
T |
9: 74,917,672 (GRCm39) |
D757V |
probably damaging |
Het |
| Blm |
C |
A |
7: 80,149,521 (GRCm39) |
C696F |
probably damaging |
Het |
| Bnip3l-ps |
T |
A |
12: 18,267,119 (GRCm39) |
|
noncoding transcript |
Het |
| Cdhr4 |
A |
T |
9: 107,870,527 (GRCm39) |
|
probably benign |
Het |
| Cfap97 |
T |
C |
8: 46,623,179 (GRCm39) |
S190P |
probably damaging |
Het |
| Chrnb1 |
A |
C |
11: 69,684,509 (GRCm39) |
|
probably benign |
Het |
| Clns1a |
A |
G |
7: 97,370,165 (GRCm39) |
|
probably benign |
Het |
| Col8a2 |
G |
A |
4: 126,205,061 (GRCm39) |
|
probably benign |
Het |
| Cr2 |
T |
A |
1: 194,823,544 (GRCm39) |
E721V |
probably damaging |
Het |
| Csk |
A |
G |
9: 57,536,584 (GRCm39) |
V172A |
probably benign |
Het |
| Cyp2g1 |
G |
A |
7: 26,520,165 (GRCm39) |
V466M |
possibly damaging |
Het |
| Cyp4f13 |
A |
G |
17: 33,148,179 (GRCm39) |
Y349H |
probably benign |
Het |
| Dnm1l |
T |
C |
16: 16,147,685 (GRCm39) |
Y205C |
probably damaging |
Het |
| Dync1i2 |
A |
T |
2: 71,063,994 (GRCm39) |
T113S |
probably benign |
Het |
| Edem2 |
T |
C |
2: 155,558,075 (GRCm39) |
E186G |
probably damaging |
Het |
| Eya2 |
G |
A |
2: 165,605,736 (GRCm39) |
R380H |
probably damaging |
Het |
| Gldn |
A |
G |
9: 54,220,206 (GRCm39) |
T132A |
probably damaging |
Het |
| Gm13941 |
A |
T |
2: 110,930,951 (GRCm39) |
I74K |
unknown |
Het |
| Gm3898 |
C |
T |
9: 43,741,339 (GRCm39) |
|
noncoding transcript |
Het |
| Ighmbp2 |
C |
T |
19: 3,321,536 (GRCm39) |
V408I |
probably benign |
Het |
| Klhdc10 |
C |
T |
6: 30,439,864 (GRCm39) |
L127F |
possibly damaging |
Het |
| Letm1 |
G |
A |
5: 33,926,730 (GRCm39) |
T189M |
possibly damaging |
Het |
| Lrrc17 |
A |
T |
5: 21,775,355 (GRCm39) |
I306F |
possibly damaging |
Het |
| Lrrk2 |
T |
A |
15: 91,671,219 (GRCm39) |
V2000E |
probably damaging |
Het |
| Mettl9 |
A |
T |
7: 120,647,093 (GRCm39) |
E66D |
probably benign |
Het |
| Mroh1 |
T |
A |
15: 76,318,131 (GRCm39) |
V877D |
probably benign |
Het |
| Mycbp2 |
C |
T |
14: 103,380,203 (GRCm39) |
V3760M |
possibly damaging |
Het |
| Nos3 |
A |
G |
5: 24,573,859 (GRCm39) |
T208A |
possibly damaging |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Obp2a |
A |
T |
2: 25,590,842 (GRCm39) |
T70S |
possibly damaging |
Het |
| Or4a72 |
C |
T |
2: 89,405,321 (GRCm39) |
V250I |
possibly damaging |
Het |
| Or52a5b |
T |
G |
7: 103,417,323 (GRCm39) |
I94L |
possibly damaging |
Het |
| Or5al6 |
T |
C |
2: 85,976,535 (GRCm39) |
D181G |
probably damaging |
Het |
| Or8b8 |
A |
T |
9: 37,808,877 (GRCm39) |
Y59F |
probably damaging |
Het |
| Or8h10 |
A |
G |
2: 86,808,867 (GRCm39) |
V91A |
probably benign |
Het |
| Pate2 |
A |
G |
9: 35,597,411 (GRCm39) |
|
probably benign |
Het |
| Pdzph1 |
A |
G |
17: 59,280,942 (GRCm39) |
F447L |
probably benign |
Het |
| Pias1 |
A |
G |
9: 62,827,775 (GRCm39) |
C211R |
probably damaging |
Het |
| Plb1 |
A |
G |
5: 32,487,291 (GRCm39) |
S929G |
probably benign |
Het |
| Pramel32 |
T |
G |
4: 88,546,280 (GRCm39) |
E354A |
probably benign |
Het |
| Prc1 |
G |
A |
7: 79,944,290 (GRCm39) |
|
probably benign |
Het |
| Prex2 |
A |
G |
1: 11,210,282 (GRCm39) |
D574G |
probably damaging |
Het |
| Rapgef4 |
G |
A |
2: 71,864,464 (GRCm39) |
|
probably null |
Het |
| Rmc1 |
CTGTGTGTT |
CTGTGTGTTGTGTGTT |
18: 12,318,063 (GRCm39) |
|
probably null |
Het |
| Rock2 |
T |
C |
12: 17,011,642 (GRCm39) |
M690T |
possibly damaging |
Het |
| Sinhcaf |
C |
T |
6: 148,846,378 (GRCm39) |
|
probably benign |
Het |
| Slc18a2 |
A |
G |
19: 59,249,837 (GRCm39) |
I25V |
probably benign |
Het |
| Slc9a5 |
T |
A |
8: 106,091,323 (GRCm39) |
I701K |
probably benign |
Het |
| Sorcs1 |
T |
A |
19: 50,210,571 (GRCm39) |
N765Y |
probably damaging |
Het |
| Ssh2 |
A |
T |
11: 77,340,941 (GRCm39) |
I698L |
probably benign |
Het |
| Stam |
A |
G |
2: 14,120,675 (GRCm39) |
D58G |
probably damaging |
Het |
| Thsd4 |
C |
A |
9: 59,879,683 (GRCm39) |
R1018L |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,929,998 (GRCm39) |
T2911A |
probably benign |
Het |
| Trpm7 |
A |
C |
2: 126,654,950 (GRCm39) |
F1329L |
probably benign |
Het |
| Ttll9 |
A |
G |
2: 152,826,168 (GRCm39) |
E126G |
possibly damaging |
Het |
| Tubgcp5 |
G |
A |
7: 55,455,077 (GRCm39) |
V258M |
probably benign |
Het |
| Unc45a |
G |
A |
7: 79,984,604 (GRCm39) |
A232V |
probably damaging |
Het |
| Utp14b |
G |
A |
1: 78,644,126 (GRCm39) |
V675M |
probably damaging |
Het |
| Vmn2r67 |
T |
A |
7: 84,801,099 (GRCm39) |
H279L |
probably benign |
Het |
| Vmn2r75 |
G |
T |
7: 85,815,510 (GRCm39) |
A118E |
probably benign |
Het |
| Wdr36 |
A |
T |
18: 32,999,012 (GRCm39) |
Q886L |
probably damaging |
Het |
| Zfp433 |
T |
A |
10: 81,555,125 (GRCm39) |
Y27* |
probably null |
Het |
| Zfp715 |
A |
T |
7: 42,960,463 (GRCm39) |
S43T |
possibly damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,286,698 (GRCm39) |
S2297P |
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 |
|
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'- GTGGTCAGACTGTAAGTTCATGAG -3'
(R):5'- GCCAGCGTGTTCACTTTGTG -3'
Sequencing Primer
(F):5'- GAGCACGGTTCCTCAGTGAGTC -3'
(R):5'- TCACTTTGTGAAGCCCCCGG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation