Incidental Mutation 'R7111:Ccdc171'
| ID |
551502 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc171
|
| Ensembl Gene |
ENSMUSG00000052407 |
| Gene Name |
coiled-coil domain containing 171 |
| Synonyms |
A330015D16Rik, 4930418J05Rik, 4930473A06Rik |
| MMRRC Submission |
045203-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R7111 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
83443782-83782907 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83611998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 898
(I898V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056520
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053414]
[ENSMUST00000125077]
[ENSMUST00000231339]
|
| AlphaFold |
E9Q1U1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053414
AA Change: I898V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000056520
Gene: ENSMUSG00000052407
AA Change: I898V
| 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 |
probably benign
Transcript: ENSMUST00000231339
AA Change: I906V
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| Meta Mutation Damage Score |
0.0578 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (54/54) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
T |
G |
19: 57,062,309 (GRCm39) |
N384T |
probably benign |
Het |
| Agap3 |
A |
G |
5: 24,706,396 (GRCm39) |
Y843C |
probably damaging |
Het |
| Aldh9a1 |
T |
A |
1: 167,182,021 (GRCm39) |
V118E |
probably benign |
Het |
| Arhgef26 |
T |
A |
3: 62,252,689 (GRCm39) |
S414T |
possibly damaging |
Het |
| Armc9 |
T |
C |
1: 86,087,717 (GRCm39) |
Y18H |
probably damaging |
Het |
| Bod1l |
A |
G |
5: 41,970,463 (GRCm39) |
|
probably null |
Het |
| Casp1 |
A |
T |
9: 5,299,816 (GRCm39) |
E96D |
probably benign |
Het |
| Cd79b |
T |
C |
11: 106,205,365 (GRCm39) |
I42M |
possibly damaging |
Het |
| Cdca7 |
G |
A |
2: 72,315,575 (GRCm39) |
R346H |
probably damaging |
Het |
| Cdh20 |
T |
C |
1: 110,065,638 (GRCm39) |
S176P |
|
Het |
| Cdh23 |
T |
A |
10: 60,222,823 (GRCm39) |
D1200V |
probably damaging |
Het |
| Cdkn1c |
T |
C |
7: 143,014,326 (GRCm39) |
D40G |
possibly damaging |
Het |
| Ckap5 |
G |
A |
2: 91,437,917 (GRCm39) |
R1666H |
probably damaging |
Het |
| Cxcl1 |
A |
G |
5: 91,039,182 (GRCm39) |
T5A |
unknown |
Het |
| Dnah2 |
A |
C |
11: 69,337,579 (GRCm39) |
|
probably null |
Het |
| Dnai3 |
T |
C |
3: 145,803,028 (GRCm39) |
I54M |
probably damaging |
Het |
| Ephb3 |
A |
T |
16: 21,037,577 (GRCm39) |
K500* |
probably null |
Het |
| Fam13c |
T |
A |
10: 70,390,336 (GRCm39) |
H533Q |
probably benign |
Het |
| Fat4 |
T |
A |
3: 39,064,682 (GRCm39) |
D4879E |
probably damaging |
Het |
| Grk6 |
G |
T |
13: 55,606,733 (GRCm39) |
W511L |
probably damaging |
Het |
| Hivep3 |
G |
C |
4: 119,952,431 (GRCm39) |
S249T |
possibly damaging |
Het |
| Iqch |
T |
A |
9: 63,419,599 (GRCm39) |
Y496F |
possibly damaging |
Het |
| Itga2 |
T |
C |
13: 115,037,066 (GRCm39) |
I21V |
unknown |
Het |
| Itpr2 |
A |
T |
6: 146,226,554 (GRCm39) |
C1397S |
probably damaging |
Het |
| Krt86 |
A |
T |
15: 101,374,498 (GRCm39) |
Y297F |
possibly damaging |
Het |
| Limch1 |
G |
T |
5: 67,182,519 (GRCm39) |
|
probably null |
Het |
| Mfsd6 |
G |
T |
1: 52,748,917 (GRCm39) |
|
probably null |
Het |
| Mx1 |
A |
G |
16: 97,256,376 (GRCm39) |
V181A |
probably damaging |
Het |
| Nme8 |
G |
A |
13: 19,859,817 (GRCm39) |
R268W |
probably benign |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or10p1 |
T |
A |
10: 129,443,829 (GRCm39) |
I174F |
possibly damaging |
Het |
| Or5d36 |
G |
A |
2: 87,901,000 (GRCm39) |
T242I |
probably damaging |
Het |
| Pappa2 |
T |
A |
1: 158,784,096 (GRCm39) |
I305F |
probably benign |
Het |
| Pdlim3 |
A |
G |
8: 46,370,539 (GRCm39) |
K232E |
probably damaging |
Het |
| Rcn1 |
T |
C |
2: 105,219,359 (GRCm39) |
E278G |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 52,057,906 (GRCm39) |
D47G |
probably benign |
Het |
| Sema4c |
G |
A |
1: 36,592,160 (GRCm39) |
T229M |
possibly damaging |
Het |
| Serpina3j |
T |
A |
12: 104,283,792 (GRCm39) |
W297R |
probably damaging |
Het |
| Serpinb11 |
A |
G |
1: 107,304,614 (GRCm39) |
E193G |
probably benign |
Het |
| Shank2 |
A |
G |
7: 143,965,289 (GRCm39) |
I966V |
probably benign |
Het |
| Siglece |
T |
C |
7: 43,309,327 (GRCm39) |
D77G |
probably damaging |
Het |
| Sqstm1 |
G |
T |
11: 50,093,418 (GRCm39) |
Q327K |
probably benign |
Het |
| Stip1 |
C |
T |
19: 6,999,178 (GRCm39) |
G467S |
possibly damaging |
Het |
| Styxl2 |
T |
C |
1: 165,954,723 (GRCm39) |
E9G |
possibly damaging |
Het |
| Svep1 |
A |
T |
4: 58,118,207 (GRCm39) |
D838E |
possibly damaging |
Het |
| Tacc2 |
G |
A |
7: 130,330,618 (GRCm39) |
A191T |
probably benign |
Het |
| Tnfrsf18 |
T |
A |
4: 156,113,168 (GRCm39) |
W285R |
probably damaging |
Het |
| Tspan9 |
T |
C |
6: 127,942,726 (GRCm39) |
D167G |
probably null |
Het |
| Uaca |
C |
T |
9: 60,779,120 (GRCm39) |
T1169I |
probably benign |
Het |
| Umod |
G |
T |
7: 119,076,369 (GRCm39) |
Y132* |
probably null |
Het |
| Vmn2r31 |
A |
G |
7: 7,399,480 (GRCm39) |
F159S |
probably damaging |
Het |
| Vmn2r82 |
C |
T |
10: 79,214,605 (GRCm39) |
T196I |
probably benign |
Het |
| Wrap53 |
A |
T |
11: 69,453,305 (GRCm39) |
W379R |
probably damaging |
Het |
| Zfp866 |
A |
T |
8: 70,219,221 (GRCm39) |
V133D |
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 |
|
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 |
|
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'- GTGGTCAGACTGTAAGTTCATGAGG -3'
(R):5'- GCCAGCGTGTTCACTTTGTG -3'
Sequencing Primer
(F):5'- AGCACGGTTCCTCAGTGAGTC -3'
(R):5'- TCACTTTGTGAAGCCCCCGG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation