Incidental Mutation 'R7934:Ccdc171'
| ID |
648603 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc171
|
| Ensembl Gene |
ENSMUSG00000052407 |
| Gene Name |
coiled-coil domain containing 171 |
| Synonyms |
A330015D16Rik, 4930418J05Rik, 4930473A06Rik |
| MMRRC Submission |
045980-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R7934 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
83443782-83782907 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 83614492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 1031
(L1031*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056520
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053414]
[ENSMUST00000125077]
[ENSMUST00000231339]
|
| AlphaFold |
E9Q1U1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000053414
AA Change: L1031*
|
| SMART Domains |
Protein: ENSMUSP00000056520
Gene: ENSMUSG00000052407
AA Change: L1031*
| 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 null
Transcript: ENSMUST00000231339
AA Change: L1039*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082I17Rik |
G |
A |
5: 139,349,770 (GRCm39) |
A93V |
probably benign |
Het |
| Abca8b |
G |
A |
11: 109,865,865 (GRCm39) |
T296I |
possibly damaging |
Het |
| Adamtsl1 |
A |
C |
4: 86,161,962 (GRCm39) |
Y365S |
probably damaging |
Het |
| Ambp |
T |
A |
4: 63,067,677 (GRCm39) |
I178F |
probably damaging |
Het |
| Ankle1 |
T |
C |
8: 71,858,899 (GRCm39) |
V44A |
possibly damaging |
Het |
| Arhgef2 |
A |
G |
3: 88,537,221 (GRCm39) |
E37G |
probably damaging |
Het |
| Atp2a2 |
A |
G |
5: 122,599,639 (GRCm39) |
I584T |
probably benign |
Het |
| Cdh17 |
T |
A |
4: 11,799,754 (GRCm39) |
|
probably null |
Het |
| Cdip1 |
T |
C |
16: 4,586,422 (GRCm39) |
T203A |
probably benign |
Het |
| Ceacam1 |
C |
T |
7: 25,163,220 (GRCm39) |
V338I |
possibly damaging |
Het |
| Cep78 |
G |
A |
19: 15,933,754 (GRCm39) |
T608I |
probably damaging |
Het |
| Ces3a |
T |
A |
8: 105,775,345 (GRCm39) |
|
probably null |
Het |
| Cfap210 |
G |
A |
2: 69,612,450 (GRCm39) |
Q97* |
probably null |
Het |
| Chd7 |
A |
G |
4: 8,854,121 (GRCm39) |
T1898A |
probably benign |
Het |
| Cpne6 |
T |
C |
14: 55,750,066 (GRCm39) |
C66R |
possibly damaging |
Het |
| Creb1 |
G |
A |
1: 64,609,372 (GRCm39) |
A108T |
probably benign |
Het |
| Ctnna3 |
A |
T |
10: 64,421,747 (GRCm39) |
I514F |
probably damaging |
Het |
| Cyp2c55 |
T |
C |
19: 39,030,535 (GRCm39) |
F456L |
probably damaging |
Het |
| Cyp2d40 |
A |
G |
15: 82,648,212 (GRCm39) |
S34P |
probably damaging |
Het |
| Cyp2g1 |
A |
T |
7: 26,518,618 (GRCm39) |
T378S |
probably damaging |
Het |
| Eif2b3 |
C |
A |
4: 116,923,675 (GRCm39) |
Q297K |
probably benign |
Het |
| Fbll1 |
T |
C |
11: 35,689,048 (GRCm39) |
N72D |
unknown |
Het |
| Fev |
C |
G |
1: 74,921,632 (GRCm39) |
R106P |
probably damaging |
Het |
| Gal3st1 |
A |
G |
11: 3,948,405 (GRCm39) |
Y204C |
probably damaging |
Het |
| Gm15130 |
A |
T |
2: 110,964,582 (GRCm39) |
L180Q |
|
Het |
| Greb1l |
A |
T |
18: 10,474,371 (GRCm39) |
K229* |
probably null |
Het |
| Haghl |
G |
T |
17: 26,002,519 (GRCm39) |
T214K |
probably damaging |
Het |
| Hivep1 |
A |
G |
13: 42,308,174 (GRCm39) |
H138R |
probably benign |
Het |
| Ighv1-53 |
G |
T |
12: 115,122,236 (GRCm39) |
Y46* |
probably null |
Het |
| Igsf21 |
T |
C |
4: 139,761,755 (GRCm39) |
T308A |
possibly damaging |
Het |
| Kcnb1 |
A |
G |
2: 166,946,536 (GRCm39) |
S771P |
probably benign |
Het |
| Kndc1 |
T |
A |
7: 139,501,402 (GRCm39) |
M897K |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,367,727 (GRCm39) |
M2345V |
possibly damaging |
Het |
| Mettl2 |
T |
C |
11: 105,019,773 (GRCm39) |
S137P |
probably benign |
Het |
| Mrpl15 |
A |
G |
1: 4,844,725 (GRCm39) |
S189P |
probably benign |
Het |
| Ndrg2 |
T |
C |
14: 52,143,661 (GRCm39) |
Q351R |
probably benign |
Het |
| Nox4 |
A |
G |
7: 86,945,032 (GRCm39) |
N65S |
probably damaging |
Het |
| Or1n1 |
A |
G |
2: 36,750,228 (GRCm39) |
I44T |
possibly damaging |
Het |
| Or1p1b |
C |
T |
11: 74,131,326 (GRCm39) |
S312F |
probably benign |
Het |
| Osbpl11 |
T |
A |
16: 33,056,752 (GRCm39) |
W729R |
probably damaging |
Het |
| Oxct2b |
C |
A |
4: 123,010,447 (GRCm39) |
C122* |
probably null |
Het |
| Pdcl3 |
A |
T |
1: 39,026,782 (GRCm39) |
|
probably benign |
Het |
| Plcg1 |
A |
G |
2: 160,616,498 (GRCm39) |
H1294R |
possibly damaging |
Het |
| Pnp2 |
C |
A |
14: 51,201,903 (GRCm39) |
S296R |
probably benign |
Het |
| Ppp1r12c |
G |
A |
7: 4,488,416 (GRCm39) |
Q337* |
probably null |
Het |
| Prr23a4 |
A |
G |
9: 98,785,880 (GRCm39) |
R182G |
possibly damaging |
Het |
| Ranbp2 |
G |
A |
10: 58,312,297 (GRCm39) |
V1006I |
probably damaging |
Het |
| Rxrg |
A |
G |
1: 167,454,927 (GRCm39) |
D170G |
probably damaging |
Het |
| Sf3b3 |
T |
C |
8: 111,548,162 (GRCm39) |
T691A |
probably benign |
Het |
| Slc1a4 |
A |
G |
11: 20,258,518 (GRCm39) |
I307T |
probably damaging |
Het |
| Slc4a8 |
G |
A |
15: 100,685,173 (GRCm39) |
V235I |
probably damaging |
Het |
| Srgap3 |
T |
A |
6: 112,708,450 (GRCm39) |
I750F |
probably damaging |
Het |
| Trim30a |
A |
T |
7: 104,061,448 (GRCm39) |
L282Q |
probably damaging |
Het |
| Tshr |
A |
G |
12: 91,478,702 (GRCm39) |
K183R |
possibly damaging |
Het |
| Usp38 |
A |
T |
8: 81,711,077 (GRCm39) |
L986Q |
probably damaging |
Het |
| Vmn1r257 |
T |
A |
7: 22,391,439 (GRCm39) |
T102S |
possibly damaging |
Het |
| Vps18 |
A |
G |
2: 119,124,122 (GRCm39) |
T350A |
probably benign |
Het |
| Zan |
T |
A |
5: 137,461,841 (GRCm39) |
T1113S |
unknown |
Het |
| Zbtb37 |
A |
T |
1: 160,857,305 (GRCm39) |
S312R |
probably damaging |
Het |
| Zeb1 |
A |
G |
18: 5,748,703 (GRCm39) |
N90S |
probably benign |
Het |
| Zfp715 |
A |
T |
7: 42,949,308 (GRCm39) |
Y217* |
probably null |
Het |
| Zfp9 |
T |
C |
6: 118,441,847 (GRCm39) |
T272A |
probably damaging |
Het |
| Zfp943 |
T |
A |
17: 22,212,361 (GRCm39) |
H482Q |
probably damaging |
Het |
| Zfp971 |
A |
T |
2: 177,675,173 (GRCm39) |
K257N |
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 |
|
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 |
|
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'- ACGGGCATTTGAATATCTTTCC -3'
(R):5'- AACAGCTTCTCCAAGAGTCTGG -3'
Sequencing Primer
(F):5'- AGGACATCAGATCCCCTGGAG -3'
(R):5'- CTCCAAGAGTCTGGTTTTTGTCAGC -3'
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| Posted On |
2020-09-15 |
Incidental Mutation