Incidental Mutation 'IGL02623:Cfap91'
| ID |
300942 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02623
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
38118116-38162222 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 38154140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 135
(D135V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023501]
[ENSMUST00000114740]
|
| AlphaFold |
Q8BRC6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023501
AA Change: D135V
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000023501
Gene: ENSMUSG00000022805
AA Change: D135V
| 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 |
possibly damaging
Transcript: ENSMUST00000114740
AA Change: D135V
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110388
Gene: ENSMUSG00000022805
AA Change: D135V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PaaSYMP
|
189 |
342 |
1.3e-61 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141896
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
T |
A |
16: 90,853,032 (GRCm39) |
I35F |
probably benign |
Het |
| Acad10 |
A |
G |
5: 121,767,993 (GRCm39) |
V819A |
possibly damaging |
Het |
| Adgrd1 |
A |
T |
5: 129,209,809 (GRCm39) |
N279Y |
probably damaging |
Het |
| Aplp2 |
C |
A |
9: 31,089,379 (GRCm39) |
|
probably benign |
Het |
| Armc8 |
T |
C |
9: 99,409,122 (GRCm39) |
|
probably benign |
Het |
| B3gnt5 |
A |
G |
16: 19,588,360 (GRCm39) |
D193G |
probably damaging |
Het |
| Cacng1 |
A |
G |
11: 107,595,145 (GRCm39) |
F144S |
probably damaging |
Het |
| Dnm3 |
T |
A |
1: 162,183,001 (GRCm39) |
T105S |
probably damaging |
Het |
| Efcab6 |
T |
A |
15: 83,763,649 (GRCm39) |
I1228F |
probably damaging |
Het |
| Erc2 |
A |
G |
14: 27,498,937 (GRCm39) |
D271G |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,908,433 (GRCm39) |
Y2523C |
probably damaging |
Het |
| Fhl4 |
A |
G |
10: 84,934,035 (GRCm39) |
F249L |
probably damaging |
Het |
| Gm17782 |
T |
C |
17: 36,472,958 (GRCm39) |
|
probably benign |
Het |
| Gm4787 |
A |
G |
12: 81,425,502 (GRCm39) |
Y219H |
probably damaging |
Het |
| Hk1 |
A |
G |
10: 62,128,138 (GRCm39) |
L328P |
probably benign |
Het |
| Hspa12a |
T |
A |
19: 58,797,983 (GRCm39) |
Y245F |
probably benign |
Het |
| Kbtbd12 |
T |
C |
6: 88,595,371 (GRCm39) |
Y153C |
probably damaging |
Het |
| Kcnd2 |
A |
T |
6: 21,726,194 (GRCm39) |
R562S |
probably benign |
Het |
| Lct |
T |
C |
1: 128,235,988 (GRCm39) |
S340G |
probably benign |
Het |
| Mettl25 |
C |
A |
10: 105,662,185 (GRCm39) |
G262W |
probably damaging |
Het |
| Mindy3 |
G |
A |
2: 12,369,294 (GRCm39) |
Q142* |
probably null |
Het |
| Optn |
T |
C |
2: 5,039,833 (GRCm39) |
E318G |
probably damaging |
Het |
| Or8j3 |
A |
T |
2: 86,028,363 (GRCm39) |
H244Q |
probably damaging |
Het |
| Pan2 |
T |
C |
10: 128,148,768 (GRCm39) |
S443P |
probably benign |
Het |
| Parva |
A |
G |
7: 112,175,646 (GRCm39) |
D259G |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,448,269 (GRCm39) |
L3816Q |
probably damaging |
Het |
| Polq |
T |
C |
16: 36,880,737 (GRCm39) |
F967S |
probably benign |
Het |
| Prdm16 |
T |
C |
4: 154,425,334 (GRCm39) |
N817S |
probably damaging |
Het |
| Ptprt |
C |
A |
2: 161,449,372 (GRCm39) |
|
probably benign |
Het |
| Rbbp8nl |
T |
A |
2: 179,923,236 (GRCm39) |
S154C |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Slit1 |
T |
C |
19: 41,640,122 (GRCm39) |
I169V |
probably damaging |
Het |
| Smyd4 |
G |
T |
11: 75,280,890 (GRCm39) |
|
probably benign |
Het |
| Tial1 |
A |
G |
7: 128,045,607 (GRCm39) |
Y326H |
probably benign |
Het |
| Tmem198b |
A |
G |
10: 128,638,320 (GRCm39) |
L81P |
probably damaging |
Het |
| Tmem94 |
T |
A |
11: 115,687,227 (GRCm39) |
C1115* |
probably null |
Het |
| Tns3 |
A |
G |
11: 8,387,141 (GRCm39) |
S1349P |
probably damaging |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Zfp106 |
A |
T |
2: 120,376,395 (GRCm39) |
|
probably null |
Het |
| Zfp119b |
T |
C |
17: 56,246,793 (GRCm39) |
E99G |
probably damaging |
Het |
| Zfp462 |
T |
A |
4: 55,012,986 (GRCm39) |
C503S |
probably damaging |
Het |
| Zfyve19 |
G |
A |
2: 119,042,496 (GRCm39) |
|
probably null |
Het |
| Zxdc |
G |
T |
6: 90,359,352 (GRCm39) |
K661N |
probably damaging |
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 |
|
|
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 |
|
PIT4449001:Cfap91
|
UTSW |
16 |
38,148,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation