Incidental Mutation 'R6053:Ccdc171'
ID |
484220 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc171
|
Ensembl Gene |
ENSMUSG00000052407 |
Gene Name |
coiled-coil domain containing 171 |
Synonyms |
A330015D16Rik, 4930418J05Rik, 4930473A06Rik |
MMRRC Submission |
044221-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R6053 (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 G
at 83713456 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 1165
(L1165R)
|
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: L1165R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000056520 Gene: ENSMUSG00000052407 AA Change: L1165R
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: L1173R
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 94.9%
|
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
C |
3: 121,964,666 (GRCm39) |
Y2158H |
probably damaging |
Het |
Acap1 |
T |
G |
11: 69,777,896 (GRCm39) |
|
probably null |
Het |
Adamts4 |
T |
A |
1: 171,080,284 (GRCm39) |
I279N |
possibly damaging |
Het |
Akap3 |
A |
G |
6: 126,843,496 (GRCm39) |
E705G |
probably damaging |
Het |
Aoc1l3 |
A |
G |
6: 48,965,422 (GRCm39) |
T477A |
probably benign |
Het |
Arap3 |
C |
A |
18: 38,123,824 (GRCm39) |
L398F |
probably damaging |
Het |
Catsperg1 |
A |
T |
7: 28,910,239 (GRCm39) |
L34* |
probably null |
Het |
Ccdc3 |
G |
A |
2: 5,233,838 (GRCm39) |
V221I |
probably benign |
Het |
Cdc42ep4 |
T |
A |
11: 113,619,812 (GRCm39) |
H193L |
probably damaging |
Het |
Clcn1 |
G |
A |
6: 42,277,208 (GRCm39) |
W361* |
probably null |
Het |
Cntn2 |
T |
C |
1: 132,446,090 (GRCm39) |
N832S |
probably benign |
Het |
Col5a1 |
A |
T |
2: 27,904,389 (GRCm39) |
|
probably benign |
Het |
Cplane1 |
A |
G |
15: 8,217,945 (GRCm39) |
D785G |
probably benign |
Het |
Cspg4b |
C |
A |
13: 113,457,260 (GRCm39) |
P1102Q |
possibly damaging |
Het |
Ctc1 |
T |
A |
11: 68,918,727 (GRCm39) |
M550K |
probably benign |
Het |
Dennd5a |
T |
C |
7: 109,532,952 (GRCm39) |
R273G |
probably damaging |
Het |
Dnajb7 |
T |
C |
15: 81,291,500 (GRCm39) |
E279G |
probably benign |
Het |
Dop1a |
G |
T |
9: 86,397,347 (GRCm39) |
G882W |
possibly damaging |
Het |
Dvl2 |
A |
G |
11: 69,896,819 (GRCm39) |
R238G |
possibly damaging |
Het |
Ect2l |
A |
T |
10: 18,017,592 (GRCm39) |
L629Q |
probably damaging |
Het |
Enpp1 |
T |
C |
10: 24,533,024 (GRCm39) |
D497G |
possibly damaging |
Het |
Ep400 |
T |
C |
5: 110,903,661 (GRCm39) |
M313V |
probably benign |
Het |
Epn2 |
T |
C |
11: 61,437,323 (GRCm39) |
Y83C |
probably damaging |
Het |
Ercc3 |
T |
G |
18: 32,379,807 (GRCm39) |
V338G |
probably damaging |
Het |
Fkbp5 |
T |
C |
17: 28,647,440 (GRCm39) |
I132V |
probably benign |
Het |
Fn1 |
A |
T |
1: 71,638,449 (GRCm39) |
Y1846N |
probably damaging |
Het |
Foxg1 |
T |
C |
12: 49,432,161 (GRCm39) |
L298P |
possibly damaging |
Het |
Foxo3 |
G |
A |
10: 42,073,210 (GRCm39) |
P436S |
probably benign |
Het |
Gbx2 |
T |
C |
1: 89,858,159 (GRCm39) |
T107A |
probably benign |
Het |
Gli1 |
G |
T |
10: 127,170,184 (GRCm39) |
H324N |
probably damaging |
Het |
Gnas |
T |
A |
2: 174,141,645 (GRCm39) |
S605T |
possibly damaging |
Het |
Ica1 |
C |
T |
6: 8,630,783 (GRCm39) |
A431T |
probably benign |
Het |
Il10ra |
C |
T |
9: 45,167,601 (GRCm39) |
D319N |
probably damaging |
Het |
Jmjd4 |
T |
A |
11: 59,344,870 (GRCm39) |
H274Q |
probably damaging |
Het |
Krt28 |
C |
A |
11: 99,262,027 (GRCm39) |
L294F |
probably benign |
Het |
Ltbp3 |
C |
A |
19: 5,802,122 (GRCm39) |
T766K |
probably damaging |
Het |
Man2b2 |
C |
A |
5: 36,970,382 (GRCm39) |
M841I |
probably benign |
Het |
Mmp14 |
T |
A |
14: 54,673,347 (GRCm39) |
M85K |
probably benign |
Het |
Mmp1b |
T |
A |
9: 7,385,031 (GRCm39) |
D206V |
probably benign |
Het |
Muc5b |
T |
C |
7: 141,418,445 (GRCm39) |
F3797S |
probably benign |
Het |
Mug1 |
A |
G |
6: 121,842,697 (GRCm39) |
D561G |
probably benign |
Het |
Myo18a |
T |
A |
11: 77,709,002 (GRCm39) |
H471Q |
probably damaging |
Het |
Nfkb2 |
A |
G |
19: 46,300,251 (GRCm39) |
E873G |
probably damaging |
Het |
Ngfr |
G |
A |
11: 95,461,832 (GRCm39) |
H361Y |
possibly damaging |
Het |
Nnt |
T |
C |
13: 119,494,045 (GRCm39) |
T679A |
possibly damaging |
Het |
Notch1 |
A |
T |
2: 26,362,924 (GRCm39) |
N947K |
probably benign |
Het |
Nrg4 |
A |
T |
9: 55,143,774 (GRCm39) |
V94D |
probably benign |
Het |
Nsd1 |
G |
T |
13: 55,441,422 (GRCm39) |
C1631F |
probably damaging |
Het |
Nutm1 |
T |
C |
2: 112,079,435 (GRCm39) |
T827A |
probably benign |
Het |
Or2t47 |
T |
A |
11: 58,442,892 (GRCm39) |
M58L |
possibly damaging |
Het |
Or4c114 |
T |
C |
2: 88,904,898 (GRCm39) |
D179G |
probably damaging |
Het |
Or5h19 |
A |
T |
16: 58,856,351 (GRCm39) |
Y250N |
probably damaging |
Het |
Or6p1 |
C |
A |
1: 174,258,135 (GRCm39) |
S47* |
probably null |
Het |
Or8b36 |
TTGCTGT |
TTGCTGTCTGCTGT |
9: 37,937,837 (GRCm39) |
|
probably null |
Het |
Orai3 |
C |
T |
7: 127,373,050 (GRCm39) |
P184S |
probably benign |
Het |
Paqr3 |
A |
T |
5: 97,259,137 (GRCm39) |
S56T |
probably benign |
Het |
Pard6b |
C |
T |
2: 167,940,973 (GRCm39) |
T320M |
possibly damaging |
Het |
Pgs1 |
T |
C |
11: 117,892,535 (GRCm39) |
S166P |
probably damaging |
Het |
Plaa |
T |
C |
4: 94,478,121 (GRCm39) |
T114A |
probably benign |
Het |
Plekha6 |
G |
C |
1: 133,200,045 (GRCm39) |
R208P |
possibly damaging |
Het |
Plin4 |
A |
T |
17: 56,415,618 (GRCm39) |
D73E |
probably benign |
Het |
Plxnb1 |
T |
C |
9: 108,940,775 (GRCm39) |
L1550P |
probably damaging |
Het |
Rbak |
A |
C |
5: 143,160,437 (GRCm39) |
Y205* |
probably null |
Het |
Rgs12 |
T |
C |
5: 35,123,296 (GRCm39) |
F360L |
probably benign |
Het |
Rgs22 |
A |
T |
15: 36,100,153 (GRCm39) |
D187E |
probably benign |
Het |
Sec24d |
C |
T |
3: 123,072,871 (GRCm39) |
Q66* |
probably null |
Het |
Sh2d5 |
T |
A |
4: 137,982,873 (GRCm39) |
M85K |
probably damaging |
Het |
Sos1 |
A |
G |
17: 80,722,463 (GRCm39) |
V861A |
possibly damaging |
Het |
Stk11ip |
T |
A |
1: 75,510,899 (GRCm39) |
|
probably null |
Het |
Tmem26 |
G |
A |
10: 68,584,314 (GRCm39) |
E127K |
probably benign |
Het |
Tmem41a |
T |
G |
16: 21,753,739 (GRCm39) |
T211P |
possibly damaging |
Het |
Tmem69 |
T |
A |
4: 116,410,581 (GRCm39) |
M130L |
possibly damaging |
Het |
Trak2 |
C |
A |
1: 58,943,228 (GRCm39) |
R726L |
possibly damaging |
Het |
Vmn1r231 |
A |
G |
17: 21,110,081 (GRCm39) |
I278T |
probably damaging |
Het |
Vwf |
G |
A |
6: 125,577,628 (GRCm39) |
V490I |
probably benign |
Het |
Wdr33 |
C |
T |
18: 32,011,116 (GRCm39) |
T255I |
possibly damaging |
Het |
Ylpm1 |
G |
T |
12: 85,043,277 (GRCm39) |
W5L |
possibly damaging |
Het |
Zfp169 |
A |
T |
13: 48,652,334 (GRCm39) |
W28R |
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 |
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'- TCATTTCAAGCAGGAGGATGC -3'
(R):5'- TTCACAATACTCCAAGGCTTCC -3'
Sequencing Primer
(F):5'- CAGGAGGATGCTTTTTCTTCTTAAC -3'
(R):5'- ACAATACTCCAAGGCTTCCATTCTC -3'
|
Posted On |
2017-07-14 |