Incidental Mutation 'R8253:Ccdc171'
ID |
640117 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc171
|
Ensembl Gene |
ENSMUSG00000052407 |
Gene Name |
coiled-coil domain containing 171 |
Synonyms |
A330015D16Rik, 4930418J05Rik, 4930473A06Rik |
MMRRC Submission |
067679-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R8253 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
83443782-83782907 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 83661207 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 1106
(S1106T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056520
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053414]
[ENSMUST00000125077]
|
AlphaFold |
E9Q1U1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053414
AA Change: S1106T
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000056520 Gene: ENSMUSG00000052407 AA Change: S1106T
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afap1l1 |
T |
C |
18: 61,874,702 (GRCm39) |
E493G |
probably benign |
Het |
Akr1a1 |
A |
T |
4: 116,493,840 (GRCm39) |
D313E |
probably damaging |
Het |
Ap1m1 |
T |
A |
8: 73,006,730 (GRCm39) |
V242E |
probably damaging |
Het |
Atad2b |
T |
A |
12: 5,024,159 (GRCm39) |
S670T |
possibly damaging |
Het |
Atad2b |
C |
T |
12: 5,024,160 (GRCm39) |
S670L |
probably benign |
Het |
Atp23 |
C |
T |
10: 126,704,543 (GRCm39) |
G197S |
probably benign |
Het |
Avpr1b |
A |
T |
1: 131,537,154 (GRCm39) |
T313S |
probably benign |
Het |
Cblc |
A |
G |
7: 19,520,157 (GRCm39) |
I362T |
probably damaging |
Het |
Cimap3 |
T |
C |
3: 105,905,683 (GRCm39) |
M193V |
probably benign |
Het |
Csde1 |
C |
A |
3: 102,946,037 (GRCm39) |
N10K |
probably damaging |
Het |
Csnk2a2 |
T |
C |
8: 96,215,005 (GRCm39) |
Y24C |
|
Het |
Cyb5r4 |
G |
T |
9: 86,941,108 (GRCm39) |
L420F |
probably damaging |
Het |
Cyth4 |
A |
G |
15: 78,486,937 (GRCm39) |
I22V |
probably benign |
Het |
Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
Dner |
C |
T |
1: 84,512,598 (GRCm39) |
G323E |
probably damaging |
Het |
Elf1 |
T |
C |
14: 79,773,792 (GRCm39) |
M1T |
probably null |
Het |
Fam13c |
T |
C |
10: 70,389,033 (GRCm39) |
S520P |
probably damaging |
Het |
Fhip1b |
T |
A |
7: 105,028,294 (GRCm39) |
H885L |
possibly damaging |
Het |
Gabra2 |
A |
G |
5: 71,249,413 (GRCm39) |
I30T |
probably benign |
Het |
Gm6793 |
T |
A |
8: 112,741,640 (GRCm39) |
M1L |
probably benign |
Het |
Inpp5a |
T |
C |
7: 139,061,556 (GRCm39) |
L76P |
probably damaging |
Het |
Itih5 |
T |
C |
2: 10,243,406 (GRCm39) |
I381T |
probably benign |
Het |
Lyrm7 |
T |
C |
11: 54,741,227 (GRCm39) |
I36V |
probably null |
Het |
Magi2 |
A |
G |
5: 20,814,305 (GRCm39) |
I906V |
probably benign |
Het |
Mup5 |
C |
T |
4: 61,752,811 (GRCm39) |
A71T |
probably benign |
Het |
Ndufaf6 |
G |
A |
4: 11,059,086 (GRCm39) |
R248W |
probably damaging |
Het |
Or52z14 |
A |
T |
7: 103,253,538 (GRCm39) |
I226L |
possibly damaging |
Het |
Or5p50 |
A |
G |
7: 107,421,776 (GRCm39) |
I300T |
probably damaging |
Het |
Palm |
A |
T |
10: 79,643,511 (GRCm39) |
K80* |
probably null |
Het |
Pcyox1 |
C |
T |
6: 86,366,044 (GRCm39) |
R390K |
probably benign |
Het |
Pdx1 |
T |
C |
5: 147,207,459 (GRCm39) |
|
probably null |
Het |
Pkp2 |
T |
A |
16: 16,086,406 (GRCm39) |
V689D |
probably damaging |
Het |
Prkar2a |
G |
T |
9: 108,617,638 (GRCm39) |
R232L |
probably damaging |
Het |
Rasgrp4 |
C |
T |
7: 28,838,287 (GRCm39) |
T87M |
possibly damaging |
Het |
Ryr2 |
T |
A |
13: 11,842,439 (GRCm39) |
Q486L |
possibly damaging |
Het |
Shd |
T |
C |
17: 56,283,295 (GRCm39) |
V309A |
|
Het |
Skint7 |
C |
T |
4: 111,834,675 (GRCm39) |
Q20* |
probably null |
Het |
Slc35g1 |
C |
A |
19: 38,391,237 (GRCm39) |
T173K |
probably damaging |
Het |
Slit2 |
T |
C |
5: 48,433,013 (GRCm39) |
F1073L |
probably benign |
Het |
Snx18 |
T |
A |
13: 113,731,317 (GRCm39) |
D559V |
probably damaging |
Het |
Tbr1 |
G |
T |
2: 61,635,585 (GRCm39) |
Q178H |
probably benign |
Het |
Tmem145 |
T |
G |
7: 25,006,939 (GRCm39) |
Y114D |
probably damaging |
Het |
Ttc22 |
T |
C |
4: 106,495,717 (GRCm39) |
L357P |
probably damaging |
Het |
Uba2 |
T |
C |
7: 33,850,323 (GRCm39) |
M377V |
probably damaging |
Het |
Vps13c |
T |
A |
9: 67,850,770 (GRCm39) |
Y2242* |
probably null |
Het |
Xdh |
T |
G |
17: 74,225,377 (GRCm39) |
Q475P |
possibly damaging |
Het |
Zbtb42 |
T |
G |
12: 112,646,746 (GRCm39) |
L307R |
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 |
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 |
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'- AAACCTTGATGTGTAATGACCCAACTC -3'
(R):5'- AAGAGAGACAGCTGCACTTTTG -3'
Sequencing Primer
(F):5'- GATGTGTAATGACCCAACTCTCCTTC -3'
(R):5'- TTCTAGCACTGTATTATCCAGGG -3'
|
Posted On |
2020-07-28 |