Incidental Mutation 'R4427:Cfap119'
| ID |
328230 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap119
|
| Ensembl Gene |
ENSMUSG00000057176 |
| Gene Name |
cilia and flagella associated protein 119 |
| Synonyms |
Ccdc189, Gm166, LOC233899 |
| MMRRC Submission |
041145-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4427 (G1)
|
| Quality Score |
199 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
127182527-127187819 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 127187288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033086]
[ENSMUST00000033088]
[ENSMUST00000072155]
[ENSMUST00000121004]
[ENSMUST00000154891]
[ENSMUST00000205694]
[ENSMUST00000206914]
|
| AlphaFold |
Q6NZQ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033086
|
| SMART Domains |
Protein: ENSMUSP00000033086
Gene: ENSMUSG00000030815
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
24 |
291 |
6.4e-104 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033088
|
| SMART Domains |
Protein: ENSMUSP00000033088
Gene: ENSMUSG00000030816
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
55 |
86 |
N/A |
INTRINSIC |
|
coiled coil region
|
189 |
209 |
N/A |
INTRINSIC |
|
coiled coil region
|
231 |
377 |
N/A |
INTRINSIC |
|
coiled coil region
|
437 |
525 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
576 |
N/A |
INTRINSIC |
|
coiled coil region
|
629 |
760 |
N/A |
INTRINSIC |
|
coiled coil region
|
800 |
839 |
N/A |
INTRINSIC |
|
RING
|
948 |
986 |
1.86e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072155
|
| SMART Domains |
Protein: ENSMUSP00000072019
Gene: ENSMUSG00000057176
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLAMP
|
130 |
228 |
3.1e-37 |
PFAM |
|
low complexity region
|
243 |
274 |
N/A |
INTRINSIC |
|
coiled coil region
|
285 |
319 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121004
|
| SMART Domains |
Protein: ENSMUSP00000113533
Gene: ENSMUSG00000030815
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
24 |
291 |
6.4e-104 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154891
|
| SMART Domains |
Protein: ENSMUSP00000116860
Gene: ENSMUSG00000030815
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
24 |
78 |
4.5e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205694
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205839
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206891
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206699
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206818
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206914
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206057
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206724
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205850
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206220
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
96% (48/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
T |
7: 29,278,678 (GRCm39) |
|
noncoding transcript |
Het |
| A2ml1 |
T |
C |
6: 128,522,009 (GRCm39) |
E1271G |
probably benign |
Het |
| Ccdc88b |
C |
T |
19: 6,827,940 (GRCm39) |
E878K |
probably damaging |
Het |
| Crybg3 |
T |
C |
16: 59,363,562 (GRCm39) |
K2441E |
probably damaging |
Het |
| Cryga |
A |
T |
1: 65,139,775 (GRCm39) |
I121N |
probably damaging |
Het |
| Dst |
A |
T |
1: 34,220,541 (GRCm39) |
Q2115L |
probably benign |
Het |
| Evi2 |
T |
A |
11: 79,407,182 (GRCm39) |
Q131L |
possibly damaging |
Het |
| Exoc1 |
A |
G |
5: 76,711,110 (GRCm39) |
I61V |
probably benign |
Het |
| Firrm |
A |
G |
1: 163,781,853 (GRCm39) |
V858A |
probably benign |
Het |
| Frem2 |
A |
G |
3: 53,446,583 (GRCm39) |
|
probably null |
Het |
| Gas2l1 |
A |
G |
11: 5,013,908 (GRCm39) |
V184A |
probably benign |
Het |
| Gsto2 |
T |
C |
19: 47,860,212 (GRCm39) |
S2P |
possibly damaging |
Het |
| Herc1 |
T |
C |
9: 66,403,287 (GRCm39) |
L4402P |
probably damaging |
Het |
| Kcnd2 |
T |
A |
6: 21,216,896 (GRCm39) |
I200N |
probably damaging |
Het |
| Klhl30 |
A |
G |
1: 91,281,426 (GRCm39) |
D9G |
probably damaging |
Het |
| Ltf |
C |
A |
9: 110,852,672 (GRCm39) |
T178K |
probably damaging |
Het |
| Memo1 |
T |
A |
17: 74,509,302 (GRCm39) |
Y239F |
probably benign |
Het |
| Ogdh |
C |
T |
11: 6,305,421 (GRCm39) |
T972I |
probably benign |
Het |
| Phactr4 |
T |
C |
4: 132,114,352 (GRCm39) |
D24G |
possibly damaging |
Het |
| Pi4ka |
C |
T |
16: 17,098,908 (GRCm39) |
R1992H |
probably damaging |
Het |
| Poc1b |
T |
C |
10: 98,991,001 (GRCm39) |
|
probably null |
Het |
| Ppp1r9b |
A |
T |
11: 94,892,150 (GRCm39) |
R188S |
possibly damaging |
Het |
| Pwwp2a |
T |
C |
11: 43,573,344 (GRCm39) |
V142A |
possibly damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Rcsd1 |
C |
A |
1: 165,483,464 (GRCm39) |
V206L |
probably damaging |
Het |
| Rps6ka2 |
T |
A |
17: 7,566,804 (GRCm39) |
D687E |
possibly damaging |
Het |
| Sgce |
G |
A |
6: 4,691,459 (GRCm39) |
A295V |
probably damaging |
Het |
| Siglec15 |
T |
G |
18: 78,086,836 (GRCm39) |
E341A |
possibly damaging |
Het |
| Tcaim |
T |
C |
9: 122,643,561 (GRCm39) |
F87S |
probably benign |
Het |
| Thbs2 |
C |
A |
17: 14,900,597 (GRCm39) |
V537L |
probably benign |
Het |
| Timd6 |
T |
A |
11: 46,475,247 (GRCm39) |
F147L |
probably benign |
Het |
| Tmx3 |
T |
A |
18: 90,541,725 (GRCm39) |
V158D |
probably damaging |
Het |
| Tpm1 |
A |
G |
9: 66,939,847 (GRCm39) |
|
probably benign |
Het |
| Trmt2a |
A |
G |
16: 18,067,093 (GRCm39) |
|
probably benign |
Het |
| Ugcg |
T |
A |
4: 59,219,555 (GRCm39) |
F297L |
probably benign |
Het |
| Utp18 |
T |
C |
11: 93,757,264 (GRCm39) |
N467D |
probably damaging |
Het |
| Vmn2r73 |
A |
G |
7: 85,506,981 (GRCm39) |
F777S |
probably damaging |
Het |
| Vwc2 |
A |
G |
11: 11,104,235 (GRCm39) |
T256A |
probably damaging |
Het |
| Zfp300 |
C |
T |
X: 20,949,405 (GRCm39) |
V120I |
possibly damaging |
Het |
| Zfp982 |
A |
T |
4: 147,597,080 (GRCm39) |
R146* |
probably null |
Het |
|
| Other mutations in Cfap119 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00428:Cfap119
|
APN |
7 |
127,184,210 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02805:Cfap119
|
APN |
7 |
127,185,566 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0197:Cfap119
|
UTSW |
7 |
127,184,034 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0883:Cfap119
|
UTSW |
7 |
127,184,034 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1695:Cfap119
|
UTSW |
7 |
127,186,745 (GRCm39) |
splice site |
probably null |
|
|
R1699:Cfap119
|
UTSW |
7 |
127,186,028 (GRCm39) |
splice site |
probably null |
|
|
R4230:Cfap119
|
UTSW |
7 |
127,186,002 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4592:Cfap119
|
UTSW |
7 |
127,184,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7741:Cfap119
|
UTSW |
7 |
127,187,159 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7920:Cfap119
|
UTSW |
7 |
127,187,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8228:Cfap119
|
UTSW |
7 |
127,184,179 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9478:Cfap119
|
UTSW |
7 |
127,184,087 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
X0021:Cfap119
|
UTSW |
7 |
127,184,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2015-07-07 |
Incidental Mutation