Incidental Mutation 'R6452:Ccdc171'
| ID |
519400 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc171
|
| Ensembl Gene |
ENSMUSG00000052407 |
| Gene Name |
coiled-coil domain containing 171 |
| Synonyms |
A330015D16Rik, 4930418J05Rik, 4930473A06Rik |
| MMRRC Submission |
044588-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R6452 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
83443782-83782907 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83782527 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1273
(D1273G)
|
| 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: D1273G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000056520
Gene: ENSMUSG00000052407
AA Change: D1273G
| 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: D1281G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110070M22Rik |
A |
G |
13: 119,624,651 (GRCm39) |
|
probably benign |
Het |
| Alox12e |
A |
T |
11: 70,210,831 (GRCm39) |
V296E |
probably damaging |
Het |
| Bmal2 |
G |
A |
6: 146,724,705 (GRCm39) |
E400K |
probably benign |
Het |
| Cetn3 |
C |
T |
13: 81,932,797 (GRCm39) |
R19* |
probably null |
Het |
| Chd6 |
G |
T |
2: 160,807,418 (GRCm39) |
P1932H |
possibly damaging |
Het |
| Cimip1 |
C |
A |
2: 173,369,700 (GRCm39) |
F71L |
probably benign |
Het |
| Cyp2d34 |
A |
T |
15: 82,500,290 (GRCm39) |
I483N |
probably benign |
Het |
| Dglucy |
T |
C |
12: 100,801,468 (GRCm39) |
V71A |
possibly damaging |
Het |
| Dhx35 |
A |
G |
2: 158,673,607 (GRCm39) |
E346G |
probably damaging |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Fasn |
G |
T |
11: 120,706,237 (GRCm39) |
Q1036K |
probably damaging |
Het |
| Fermt3 |
A |
T |
19: 6,992,105 (GRCm39) |
F92I |
probably benign |
Het |
| Filip1l |
C |
A |
16: 57,327,163 (GRCm39) |
D64E |
possibly damaging |
Het |
| Fnbp1l |
A |
G |
3: 122,338,198 (GRCm39) |
F491S |
probably damaging |
Het |
| Fzd2 |
T |
G |
11: 102,495,811 (GRCm39) |
V85G |
probably damaging |
Het |
| Gjd4 |
G |
A |
18: 9,280,457 (GRCm39) |
T207M |
possibly damaging |
Het |
| Gm32742 |
T |
C |
9: 51,057,490 (GRCm39) |
E1096G |
probably damaging |
Het |
| Itgb3 |
T |
A |
11: 104,524,290 (GRCm39) |
L142* |
probably null |
Het |
| Kctd21 |
T |
A |
7: 96,996,869 (GRCm39) |
I114N |
probably benign |
Het |
| Klra4 |
G |
T |
6: 130,042,329 (GRCm39) |
|
probably null |
Het |
| Larp4b |
T |
C |
13: 9,197,503 (GRCm39) |
V240A |
probably damaging |
Het |
| Lrriq4 |
T |
C |
3: 30,709,882 (GRCm39) |
S409P |
probably damaging |
Het |
| Magel2 |
A |
G |
7: 62,030,132 (GRCm39) |
E1012G |
unknown |
Het |
| Mmp24 |
A |
T |
2: 155,657,673 (GRCm39) |
D521V |
possibly damaging |
Het |
| Mocos |
A |
G |
18: 24,828,998 (GRCm39) |
I768V |
probably benign |
Het |
| Mprip |
A |
T |
11: 59,643,609 (GRCm39) |
E553V |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,183,275 (GRCm39) |
Y718F |
probably benign |
Het |
| Myh8 |
A |
T |
11: 67,196,565 (GRCm39) |
I1762F |
possibly damaging |
Het |
| Myo7a |
C |
T |
7: 97,722,374 (GRCm39) |
V1184M |
probably benign |
Het |
| Neb |
A |
T |
2: 52,069,495 (GRCm39) |
D5775E |
probably benign |
Het |
| Or10h5 |
T |
C |
17: 33,434,919 (GRCm39) |
N133S |
probably benign |
Het |
| Or5p66 |
A |
G |
7: 107,886,100 (GRCm39) |
S78P |
probably damaging |
Het |
| Pramel19 |
T |
C |
4: 101,798,640 (GRCm39) |
Y204H |
probably benign |
Het |
| Prl8a2 |
T |
C |
13: 27,536,780 (GRCm39) |
I134T |
probably benign |
Het |
| Qrich2 |
G |
A |
11: 116,346,714 (GRCm39) |
T1370I |
probably benign |
Het |
| Rabgap1l |
A |
G |
1: 160,281,331 (GRCm39) |
L630P |
probably damaging |
Het |
| Ranbp2 |
G |
T |
10: 58,313,979 (GRCm39) |
L1566F |
probably benign |
Het |
| Rnf43 |
T |
A |
11: 87,623,079 (GRCm39) |
W727R |
probably damaging |
Het |
| Rundc3b |
A |
T |
5: 8,629,175 (GRCm39) |
|
probably null |
Het |
| Samm50 |
T |
G |
15: 84,088,298 (GRCm39) |
|
probably benign |
Het |
| Sema4f |
G |
A |
6: 82,894,643 (GRCm39) |
A476V |
probably benign |
Het |
| Slc4a4 |
A |
G |
5: 89,376,839 (GRCm39) |
N1031S |
probably benign |
Het |
| Slc4a9 |
A |
G |
18: 36,664,512 (GRCm39) |
Y390C |
probably damaging |
Het |
| Slco6d1 |
C |
A |
1: 98,348,937 (GRCm39) |
Q3K |
probably benign |
Het |
| Smim1 |
T |
C |
4: 154,108,071 (GRCm39) |
|
probably benign |
Het |
| Spg7 |
A |
G |
8: 123,806,162 (GRCm39) |
K291E |
possibly damaging |
Het |
| Sppl2c |
A |
T |
11: 104,079,017 (GRCm39) |
T606S |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,062,844 (GRCm39) |
D758G |
probably damaging |
Het |
| Tigd5 |
A |
T |
15: 75,783,287 (GRCm39) |
R550* |
probably null |
Het |
| Tlcd3a |
G |
T |
11: 76,097,972 (GRCm39) |
G60* |
probably null |
Het |
| Tnrc18 |
A |
C |
5: 142,712,767 (GRCm39) |
L2594R |
probably damaging |
Het |
| Vezf1 |
A |
G |
11: 87,972,496 (GRCm39) |
T468A |
possibly damaging |
Het |
| Vmn1r210 |
T |
A |
13: 23,011,840 (GRCm39) |
I149F |
probably damaging |
Het |
| Vmn2r96 |
A |
C |
17: 18,804,117 (GRCm39) |
T264P |
probably benign |
Het |
| Zfp217 |
C |
G |
2: 169,961,214 (GRCm39) |
S371T |
probably benign |
Het |
| Zfp442 |
G |
A |
2: 150,250,028 (GRCm39) |
H568Y |
probably damaging |
Het |
| Zfp53 |
A |
C |
17: 21,729,875 (GRCm39) |
H636P |
probably damaging |
Het |
| Zscan4d |
C |
T |
7: 10,895,999 (GRCm39) |
C457Y |
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 |
|
|
R6339:Ccdc171
|
UTSW |
4 |
83,661,234 (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'- CAGATCACTTCATGGTGTGGAC -3'
(R):5'- GCACACATTGGGATATCACAC -3'
Sequencing Primer
(F):5'- CCATCCTGTTTAAATCTCAAGAGGC -3'
(R):5'- GGGATATCACACCATTACCTTACTTG -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation