Incidental Mutation 'IGL02243:Cfap91'
ID |
286083 |
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 # |
IGL02243
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
38118116-38162222 bp(-) (GRCm39) |
Type of Mutation |
utr 5 prime |
DNA Base Change (assembly) |
T to C
at 38162142 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110388
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023501]
[ENSMUST00000114740]
|
AlphaFold |
Q8BRC6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023501
|
SMART Domains |
Protein: ENSMUSP00000023501 Gene: ENSMUSG00000022805
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 benign
Transcript: ENSMUST00000114740
|
SMART Domains |
Protein: ENSMUSP00000110388 Gene: ENSMUSG00000022805
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apc2 |
A |
G |
10: 80,138,175 (GRCm39) |
Y87C |
probably damaging |
Het |
Armc3 |
G |
A |
2: 19,290,948 (GRCm39) |
|
probably null |
Het |
Brsk2 |
T |
C |
7: 141,547,036 (GRCm39) |
F493S |
probably damaging |
Het |
Cd19 |
T |
C |
7: 126,009,965 (GRCm39) |
|
probably null |
Het |
Chd2 |
T |
C |
7: 73,147,456 (GRCm39) |
|
probably null |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Ddx19a |
T |
G |
8: 111,703,088 (GRCm39) |
I450L |
probably benign |
Het |
Edn2 |
G |
A |
4: 120,019,229 (GRCm39) |
|
probably null |
Het |
Elp2 |
G |
A |
18: 24,755,663 (GRCm39) |
R470Q |
probably benign |
Het |
Fhdc1 |
T |
G |
3: 84,381,947 (GRCm39) |
M1L |
possibly damaging |
Het |
Gba2 |
A |
T |
4: 43,568,719 (GRCm39) |
I619N |
probably benign |
Het |
Glce |
A |
G |
9: 61,977,422 (GRCm39) |
F154S |
probably damaging |
Het |
Gm3476 |
A |
T |
14: 6,122,811 (GRCm38) |
C195* |
probably null |
Het |
Hsp90aa1 |
A |
G |
12: 110,661,525 (GRCm39) |
S164P |
probably damaging |
Het |
Iqcg |
T |
C |
16: 32,865,962 (GRCm39) |
D127G |
probably damaging |
Het |
Jag2 |
G |
A |
12: 112,879,965 (GRCm39) |
T381I |
possibly damaging |
Het |
Krt16 |
A |
T |
11: 100,137,162 (GRCm39) |
|
probably benign |
Het |
Lhx2 |
T |
A |
2: 38,243,531 (GRCm39) |
|
probably benign |
Het |
Lrrc2 |
A |
T |
9: 110,799,125 (GRCm39) |
N158I |
probably damaging |
Het |
M1ap |
C |
T |
6: 83,003,269 (GRCm39) |
P389S |
probably damaging |
Het |
Masp2 |
A |
T |
4: 148,687,525 (GRCm39) |
D104V |
probably benign |
Het |
Met |
G |
A |
6: 17,549,093 (GRCm39) |
V982I |
probably damaging |
Het |
Msh2 |
T |
A |
17: 87,985,796 (GRCm39) |
|
probably benign |
Het |
Myh9 |
A |
G |
15: 77,651,682 (GRCm39) |
L1509P |
probably damaging |
Het |
Mylk2 |
A |
G |
2: 152,762,473 (GRCm39) |
H554R |
probably damaging |
Het |
Oxr1 |
T |
G |
15: 41,399,097 (GRCm39) |
|
probably benign |
Het |
Pdp1 |
A |
T |
4: 11,961,873 (GRCm39) |
V146D |
probably benign |
Het |
Pdzrn4 |
A |
T |
15: 92,668,577 (GRCm39) |
M910L |
probably benign |
Het |
Prl2a1 |
T |
C |
13: 27,991,400 (GRCm39) |
|
probably benign |
Het |
Rapgef6 |
C |
T |
11: 54,567,226 (GRCm39) |
P1136S |
probably damaging |
Het |
Rasgef1c |
A |
T |
11: 49,848,217 (GRCm39) |
S69C |
possibly damaging |
Het |
Rnaseh1 |
C |
T |
12: 28,705,631 (GRCm39) |
R152W |
probably damaging |
Het |
Sele |
T |
C |
1: 163,880,537 (GRCm39) |
V373A |
probably benign |
Het |
Tmem67 |
G |
A |
4: 12,070,584 (GRCm39) |
S314L |
possibly damaging |
Het |
Traf4 |
T |
C |
11: 78,051,343 (GRCm39) |
E271G |
probably benign |
Het |
Trim39 |
T |
C |
17: 36,571,276 (GRCm39) |
D494G |
probably damaging |
Het |
Virma |
G |
A |
4: 11,546,031 (GRCm39) |
R1673Q |
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 |
|
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 |
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 |