Incidental Mutation 'PIT4449001:Cfap91'
ID |
555749 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cfap91
|
Ensembl Gene |
ENSMUSG00000022805 |
Gene Name |
cilia and flagella associated protein 91 |
Synonyms |
4932425I24Rik, Spata26, Maats1 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
PIT4449001 (G1)
|
Quality Score |
136.008 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
38118116-38162222 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 38148720 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 236
(E236G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023501
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023501]
[ENSMUST00000114740]
|
AlphaFold |
Q8BRC6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023501
AA Change: E236G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023501 Gene: ENSMUSG00000022805 AA Change: E236G
Domain | Start | End | E-Value | Type |
Pfam:PaaSYMP
|
190 |
342 |
1.4e-65 |
PFAM |
low complexity region
|
413 |
428 |
N/A |
INTRINSIC |
low complexity region
|
513 |
526 |
N/A |
INTRINSIC |
low complexity region
|
599 |
613 |
N/A |
INTRINSIC |
coiled coil region
|
650 |
682 |
N/A |
INTRINSIC |
coiled coil region
|
737 |
763 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114740
AA Change: E236G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110388 Gene: ENSMUSG00000022805 AA Change: E236G
Domain | Start | End | E-Value | Type |
Pfam:PaaSYMP
|
189 |
342 |
1.3e-61 |
PFAM |
|
Coding Region Coverage |
- 1x: 93.3%
- 3x: 90.8%
- 10x: 84.7%
- 20x: 71.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asf1b |
A |
G |
8: 84,694,611 (GRCm39) |
N125S |
probably benign |
Het |
BC048671 |
T |
A |
6: 90,282,145 (GRCm39) |
L101I |
probably damaging |
Het |
Camta1 |
A |
G |
4: 151,216,043 (GRCm39) |
L959P |
probably benign |
Het |
Cfh |
C |
A |
1: 140,040,303 (GRCm39) |
V598F |
probably damaging |
Het |
Cyp2j7 |
G |
T |
4: 96,103,575 (GRCm39) |
T320K |
probably damaging |
Het |
Ddr1 |
A |
G |
17: 35,998,141 (GRCm39) |
I468T |
possibly damaging |
Het |
Dhx15 |
A |
G |
5: 52,318,300 (GRCm39) |
V510A |
probably damaging |
Het |
Dpp4 |
T |
A |
2: 62,186,988 (GRCm39) |
K507N |
probably benign |
Het |
Evpl |
G |
A |
11: 116,124,225 (GRCm39) |
T198M |
possibly damaging |
Het |
Gabbr1 |
G |
A |
17: 37,367,242 (GRCm39) |
V373I |
probably damaging |
Het |
Gak |
A |
T |
5: 108,728,791 (GRCm39) |
S1049T |
probably benign |
Het |
Gipr |
C |
T |
7: 18,894,543 (GRCm39) |
R253H |
probably benign |
Het |
Gm3685 |
T |
A |
14: 7,043,960 (GRCm38) |
M73L |
probably benign |
Het |
Gm5168 |
C |
T |
X: 25,994,840 (GRCm39) |
R129Q |
probably null |
Het |
Kcnh1 |
T |
A |
1: 192,100,992 (GRCm39) |
V555D |
probably damaging |
Het |
Kif26b |
T |
C |
1: 178,745,651 (GRCm39) |
S1916P |
probably damaging |
Het |
Lingo4 |
T |
C |
3: 94,309,239 (GRCm39) |
V59A |
probably benign |
Het |
Mroh8 |
T |
A |
2: 157,067,454 (GRCm39) |
Q635L |
probably damaging |
Het |
Msh6 |
T |
A |
17: 88,293,616 (GRCm39) |
D790E |
probably damaging |
Het |
Nrxn1 |
A |
T |
17: 90,905,007 (GRCm39) |
W809R |
probably damaging |
Het |
Or5ac19 |
C |
A |
16: 59,089,493 (GRCm39) |
C179F |
probably damaging |
Het |
Polr3d |
T |
C |
14: 70,676,903 (GRCm39) |
H397R |
probably benign |
Het |
Pwp2 |
G |
A |
10: 78,014,304 (GRCm39) |
T432I |
probably benign |
Het |
Rad21 |
G |
C |
15: 51,836,639 (GRCm39) |
F177L |
probably benign |
Het |
Rnf182 |
G |
A |
13: 43,822,153 (GRCm39) |
V235I |
probably benign |
Het |
Scn11a |
C |
T |
9: 119,599,014 (GRCm39) |
C1172Y |
probably damaging |
Het |
Sh2b3 |
A |
G |
5: 121,966,742 (GRCm39) |
L124P |
possibly damaging |
Het |
Six2 |
T |
C |
17: 85,992,906 (GRCm39) |
N199S |
probably benign |
Het |
Slc5a3 |
A |
G |
16: 91,874,702 (GRCm39) |
D253G |
probably benign |
Het |
Synm |
A |
G |
7: 67,385,025 (GRCm39) |
M879T |
probably benign |
Het |
Tasp1 |
A |
G |
2: 139,752,455 (GRCm39) |
I328T |
possibly damaging |
Het |
Tbrg4 |
T |
C |
11: 6,569,689 (GRCm39) |
Q309R |
probably damaging |
Het |
Tmtc2 |
A |
G |
10: 105,139,465 (GRCm39) |
L687P |
probably damaging |
Het |
Trgc3 |
A |
T |
13: 19,447,532 (GRCm39) |
R162* |
probably null |
Het |
Tufm |
T |
C |
7: 126,086,621 (GRCm39) |
M1T |
probably null |
Het |
Vmn2r116 |
A |
C |
17: 23,607,921 (GRCm39) |
L496F |
probably benign |
Het |
Vmn2r75 |
C |
T |
7: 85,814,791 (GRCm39) |
C234Y |
probably damaging |
Het |
Wars2 |
G |
T |
3: 99,112,595 (GRCm39) |
V162L |
possibly damaging |
Het |
Zc3h11a |
A |
T |
1: 133,552,349 (GRCm39) |
V586D |
probably benign |
Het |
Zdhhc5 |
A |
T |
2: 84,520,571 (GRCm39) |
N535K |
probably damaging |
Het |
Zfp52 |
T |
C |
17: 21,777,478 (GRCm39) |
Y38H |
probably damaging |
Het |
Zfp729b |
T |
C |
13: 67,739,542 (GRCm39) |
M908V |
probably benign |
Het |
Zfp772 |
T |
C |
7: 7,207,350 (GRCm39) |
I114V |
probably benign |
Het |
|
Other mutations in Cfap91 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00230:Cfap91
|
APN |
16 |
38,156,704 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02243:Cfap91
|
APN |
16 |
38,162,142 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL02377:Cfap91
|
APN |
16 |
38,153,181 (GRCm39) |
splice site |
probably benign |
|
IGL02604:Cfap91
|
APN |
16 |
38,141,921 (GRCm39) |
unclassified |
probably benign |
|
IGL02623:Cfap91
|
APN |
16 |
38,154,140 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL02985:Cfap91
|
APN |
16 |
38,118,634 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03389:Cfap91
|
APN |
16 |
38,144,498 (GRCm39) |
critical splice donor site |
probably null |
|
PIT4280001:Cfap91
|
UTSW |
16 |
38,153,135 (GRCm39) |
missense |
probably benign |
0.23 |
R0076:Cfap91
|
UTSW |
16 |
38,123,046 (GRCm39) |
nonsense |
probably null |
|
R0076:Cfap91
|
UTSW |
16 |
38,123,046 (GRCm39) |
nonsense |
probably null |
|
R0360:Cfap91
|
UTSW |
16 |
38,118,659 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0501:Cfap91
|
UTSW |
16 |
38,155,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R0523:Cfap91
|
UTSW |
16 |
38,148,736 (GRCm39) |
missense |
probably damaging |
1.00 |
R0743:Cfap91
|
UTSW |
16 |
38,155,996 (GRCm39) |
missense |
probably damaging |
0.99 |
R0900:Cfap91
|
UTSW |
16 |
38,156,764 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1218:Cfap91
|
UTSW |
16 |
38,118,495 (GRCm39) |
missense |
probably benign |
|
R1499:Cfap91
|
UTSW |
16 |
38,141,762 (GRCm39) |
missense |
probably damaging |
0.96 |
R1693:Cfap91
|
UTSW |
16 |
38,162,085 (GRCm39) |
missense |
probably benign |
|
R1793:Cfap91
|
UTSW |
16 |
38,141,781 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1854:Cfap91
|
UTSW |
16 |
38,144,659 (GRCm39) |
splice site |
probably null |
|
R2007:Cfap91
|
UTSW |
16 |
38,118,616 (GRCm39) |
missense |
probably benign |
0.02 |
R2126:Cfap91
|
UTSW |
16 |
38,162,124 (GRCm39) |
missense |
probably benign |
0.19 |
R2443:Cfap91
|
UTSW |
16 |
38,123,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R2857:Cfap91
|
UTSW |
16 |
38,123,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R2937:Cfap91
|
UTSW |
16 |
38,131,400 (GRCm39) |
missense |
possibly damaging |
0.65 |
R3441:Cfap91
|
UTSW |
16 |
38,154,168 (GRCm39) |
missense |
probably benign |
0.03 |
R3442:Cfap91
|
UTSW |
16 |
38,154,168 (GRCm39) |
missense |
probably benign |
0.03 |
R4056:Cfap91
|
UTSW |
16 |
38,118,576 (GRCm39) |
missense |
probably benign |
|
R4057:Cfap91
|
UTSW |
16 |
38,118,576 (GRCm39) |
missense |
probably benign |
|
R4424:Cfap91
|
UTSW |
16 |
38,140,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R4493:Cfap91
|
UTSW |
16 |
38,162,130 (GRCm39) |
missense |
probably benign |
0.00 |
R4546:Cfap91
|
UTSW |
16 |
38,155,885 (GRCm39) |
missense |
probably benign |
0.11 |
R5177:Cfap91
|
UTSW |
16 |
38,152,683 (GRCm39) |
missense |
probably benign |
0.00 |
R5496:Cfap91
|
UTSW |
16 |
38,141,855 (GRCm39) |
missense |
probably damaging |
1.00 |
R5868:Cfap91
|
UTSW |
16 |
38,152,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R5944:Cfap91
|
UTSW |
16 |
38,148,672 (GRCm39) |
missense |
probably damaging |
0.97 |
R6165:Cfap91
|
UTSW |
16 |
38,154,173 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6521:Cfap91
|
UTSW |
16 |
38,127,121 (GRCm39) |
missense |
probably benign |
0.06 |
R6804:Cfap91
|
UTSW |
16 |
38,152,604 (GRCm39) |
missense |
probably damaging |
0.97 |
R7086:Cfap91
|
UTSW |
16 |
38,127,219 (GRCm39) |
missense |
possibly damaging |
0.70 |
R7202:Cfap91
|
UTSW |
16 |
38,155,959 (GRCm39) |
missense |
probably benign |
0.00 |
R7271:Cfap91
|
UTSW |
16 |
38,148,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R7325:Cfap91
|
UTSW |
16 |
38,141,963 (GRCm39) |
splice site |
probably null |
|
R7375:Cfap91
|
UTSW |
16 |
38,155,980 (GRCm39) |
missense |
probably damaging |
0.97 |
R7453:Cfap91
|
UTSW |
16 |
38,141,841 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7604:Cfap91
|
UTSW |
16 |
38,118,598 (GRCm39) |
nonsense |
probably null |
|
R8040:Cfap91
|
UTSW |
16 |
38,140,733 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8702:Cfap91
|
UTSW |
16 |
38,152,674 (GRCm39) |
missense |
probably benign |
0.00 |
R9012:Cfap91
|
UTSW |
16 |
38,122,335 (GRCm39) |
missense |
probably damaging |
0.98 |
R9164:Cfap91
|
UTSW |
16 |
38,155,960 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9566:Cfap91
|
UTSW |
16 |
38,155,996 (GRCm39) |
missense |
probably damaging |
0.99 |
R9749:Cfap91
|
UTSW |
16 |
38,128,487 (GRCm39) |
missense |
probably damaging |
0.99 |
X0062:Cfap91
|
UTSW |
16 |
38,118,461 (GRCm39) |
missense |
possibly damaging |
0.70 |
X0067:Cfap91
|
UTSW |
16 |
38,127,222 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
Predicted Primers |
PCR Primer
(F):5'- AATAACGTGTGTACACCCATGAG -3'
(R):5'- AAAACAATGTCTGCCTCAGTAAGAG -3'
Sequencing Primer
(F):5'- TGTGTACACCCATGAGCCCAG -3'
(R):5'- CACGAAGGCCACATGCTAGTTTTG -3'
|
Posted On |
2019-06-07 |