Incidental Mutation 'R6339:Ccdc171'
| ID |
513807 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc171
|
| Ensembl Gene |
ENSMUSG00000052407 |
| Gene Name |
coiled-coil domain containing 171 |
| Synonyms |
A330015D16Rik, 4930418J05Rik, 4930473A06Rik |
| MMRRC Submission |
044493-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R6339 (G1)
|
| Quality Score |
206.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
83443782-83782907 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83661234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 1115
(T1115S)
|
| 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: T1115S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056520
Gene: ENSMUSG00000052407
AA Change: T1115S
| 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: ENSMUST00000182894
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183729
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000231339
AA Change: T1123S
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.0606 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.2%
- 20x: 94.1%
|
| Validation Efficiency |
97% (69/71) |
| 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 |
|---|
| 4933424G06Rik |
A |
T |
1: 36,749,542 (GRCm39) |
|
probably benign |
Het |
| Adgrg6 |
G |
T |
10: 14,310,091 (GRCm39) |
S743R |
probably damaging |
Het |
| Ak8 |
A |
G |
2: 28,624,460 (GRCm39) |
|
probably null |
Het |
| Alpk2 |
A |
G |
18: 65,482,877 (GRCm39) |
M377T |
probably benign |
Het |
| Ap1g1 |
G |
A |
8: 110,571,000 (GRCm39) |
V425I |
possibly damaging |
Het |
| Apob |
A |
T |
12: 8,066,188 (GRCm39) |
R4353W |
probably damaging |
Het |
| Arhgef38 |
T |
C |
3: 132,839,423 (GRCm39) |
K540R |
probably benign |
Het |
| B3galt2 |
A |
T |
1: 143,522,640 (GRCm39) |
T259S |
possibly damaging |
Het |
| Btbd8 |
G |
A |
5: 107,651,583 (GRCm39) |
V159I |
probably benign |
Het |
| C2cd2l |
T |
C |
9: 44,224,788 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
T |
C |
14: 55,737,306 (GRCm39) |
V763A |
possibly damaging |
Het |
| Chst2 |
C |
T |
9: 95,287,803 (GRCm39) |
G181D |
probably damaging |
Het |
| Col7a1 |
C |
T |
9: 108,785,701 (GRCm39) |
T390M |
unknown |
Het |
| Cpt1a |
A |
C |
19: 3,412,152 (GRCm39) |
D208A |
probably benign |
Het |
| Crocc2 |
A |
G |
1: 93,141,754 (GRCm39) |
E1183G |
probably benign |
Het |
| Defa39 |
G |
A |
8: 22,193,485 (GRCm39) |
S45F |
possibly damaging |
Het |
| Dlg5 |
T |
A |
14: 24,208,128 (GRCm39) |
H1003L |
probably damaging |
Het |
| Dok2 |
A |
T |
14: 71,013,158 (GRCm39) |
I109L |
probably benign |
Het |
| Dpy19l4 |
A |
T |
4: 11,285,111 (GRCm39) |
I465K |
probably damaging |
Het |
| Dync1h1 |
A |
T |
12: 110,612,639 (GRCm39) |
D2838V |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,339,644 (GRCm39) |
R646G |
possibly damaging |
Het |
| Gcfc2 |
T |
A |
6: 81,923,477 (GRCm39) |
F514I |
probably damaging |
Het |
| Gm8104 |
T |
C |
14: 42,958,942 (GRCm39) |
M44T |
probably benign |
Het |
| Golph3l |
T |
A |
3: 95,524,750 (GRCm39) |
W334R |
probably damaging |
Het |
| Gpr179 |
A |
T |
11: 97,235,002 (GRCm39) |
F443I |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,413,927 (GRCm39) |
V1467A |
probably benign |
Het |
| Ift172 |
A |
T |
5: 31,444,289 (GRCm39) |
D44E |
probably damaging |
Het |
| Il1rl1 |
C |
T |
1: 40,501,016 (GRCm39) |
A464V |
possibly damaging |
Het |
| Irx5 |
A |
G |
8: 93,086,481 (GRCm39) |
E188G |
probably damaging |
Het |
| Jak1 |
A |
G |
4: 101,019,123 (GRCm39) |
V710A |
probably damaging |
Het |
| Kcng4 |
A |
T |
8: 120,359,693 (GRCm39) |
F228I |
probably damaging |
Het |
| Lifr |
A |
G |
15: 7,196,530 (GRCm39) |
N238S |
probably benign |
Het |
| Ltbp3 |
C |
A |
19: 5,797,505 (GRCm39) |
H414Q |
probably damaging |
Het |
| Mcpt8 |
A |
G |
14: 56,319,794 (GRCm39) |
C219R |
probably benign |
Het |
| Mepce |
A |
T |
5: 137,783,950 (GRCm39) |
N125K |
possibly damaging |
Het |
| Mfap3 |
T |
C |
11: 57,420,598 (GRCm39) |
F193S |
probably damaging |
Het |
| Miox |
T |
A |
15: 89,219,702 (GRCm39) |
Y63* |
probably null |
Het |
| Msl2 |
A |
T |
9: 100,978,949 (GRCm39) |
H441L |
probably benign |
Het |
| Nemp2 |
T |
A |
1: 52,680,069 (GRCm39) |
S98T |
possibly damaging |
Het |
| Neto2 |
G |
T |
8: 86,367,187 (GRCm39) |
A547E |
probably benign |
Het |
| Nol12 |
T |
C |
15: 78,825,033 (GRCm39) |
|
probably benign |
Het |
| Npr3 |
T |
C |
15: 11,845,361 (GRCm39) |
I504V |
probably damaging |
Het |
| Or4c106 |
A |
G |
2: 88,683,215 (GRCm39) |
D307G |
probably null |
Het |
| Pcdhb3 |
T |
C |
18: 37,433,998 (GRCm39) |
|
probably benign |
Het |
| Pear1 |
C |
A |
3: 87,659,827 (GRCm39) |
G720W |
probably damaging |
Het |
| Pibf1 |
T |
G |
14: 99,344,834 (GRCm39) |
D151E |
probably damaging |
Het |
| Pla2g6 |
T |
A |
15: 79,193,016 (GRCm39) |
N217I |
probably damaging |
Het |
| Plcd1 |
G |
A |
9: 118,904,059 (GRCm39) |
R292C |
probably damaging |
Het |
| Plcl1 |
C |
T |
1: 55,735,474 (GRCm39) |
L272F |
probably damaging |
Het |
| Ppp4r4 |
A |
T |
12: 103,571,228 (GRCm39) |
K656* |
probably null |
Het |
| Prr22 |
G |
A |
17: 57,078,490 (GRCm39) |
M214I |
probably benign |
Het |
| Ror1 |
G |
T |
4: 100,269,128 (GRCm39) |
R322L |
possibly damaging |
Het |
| Sh3tc2 |
G |
A |
18: 62,108,642 (GRCm39) |
W244* |
probably null |
Het |
| Slamf6 |
A |
G |
1: 171,775,615 (GRCm39) |
N320S |
probably null |
Het |
| Slc1a6 |
A |
C |
10: 78,635,919 (GRCm39) |
D328A |
possibly damaging |
Het |
| Sorl1 |
G |
T |
9: 41,881,038 (GRCm39) |
T2161K |
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,721,586 (GRCm39) |
D1198V |
probably benign |
Het |
| Sstr2 |
T |
C |
11: 113,515,375 (GRCm39) |
F98S |
probably damaging |
Het |
| Stk33 |
A |
T |
7: 108,920,672 (GRCm39) |
D348E |
probably benign |
Het |
| Sulf1 |
T |
A |
1: 12,908,664 (GRCm39) |
L559Q |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,035,927 (GRCm39) |
D3738G |
probably benign |
Het |
| Taok3 |
A |
T |
5: 117,366,095 (GRCm39) |
Q382L |
probably benign |
Het |
| Tet2 |
T |
A |
3: 133,192,178 (GRCm39) |
H752L |
possibly damaging |
Het |
| Tia1 |
A |
C |
6: 86,403,638 (GRCm39) |
K285T |
probably damaging |
Het |
| Tle3 |
G |
T |
9: 61,309,206 (GRCm39) |
|
probably null |
Het |
| Top1mt |
T |
C |
15: 75,537,505 (GRCm39) |
T414A |
possibly damaging |
Het |
| Ubc |
A |
T |
5: 125,464,406 (GRCm39) |
I307N |
probably damaging |
Het |
| Vmn2r96 |
A |
T |
17: 18,804,124 (GRCm39) |
D266V |
possibly damaging |
Het |
| Wbp2nl |
G |
T |
15: 82,183,246 (GRCm39) |
W13C |
possibly damaging |
Het |
| Zfp456 |
T |
A |
13: 67,510,483 (GRCm39) |
K102* |
probably null |
Het |
| Zkscan1 |
T |
C |
5: 138,091,567 (GRCm39) |
V100A |
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 |
|
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 |
|
|
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'- GTTAAACCTTGATGTGTAATGACCC -3'
(R):5'- AGAGACAGCTGCACTTTTGTTTTC -3'
Sequencing Primer
(F):5'- ACCTTGATGTGTAATGACCCAACTC -3'
(R):5'- TTCTAGCACTGTATTATCCAGGG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation