Incidental Mutation 'R6804:Cfap91'
| ID |
533502 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap91
|
| Ensembl Gene |
ENSMUSG00000022805 |
| Gene Name |
cilia and flagella associated protein 91 |
| Synonyms |
4932425I24Rik, Spata26, Maats1 |
| MMRRC Submission |
044917-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6804 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
38118116-38162222 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38152604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 202
(D202G)
|
| 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: D202G
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000023501
Gene: ENSMUSG00000022805
AA Change: D202G
| 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: D202G
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110388
Gene: ENSMUSG00000022805
AA Change: D202G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PaaSYMP
|
189 |
342 |
1.3e-61 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
A |
T |
1: 58,343,757 (GRCm39) |
Q480L |
probably benign |
Het |
| Arid4b |
T |
A |
13: 14,303,792 (GRCm39) |
D72E |
probably benign |
Het |
| Avil |
C |
T |
10: 126,844,175 (GRCm39) |
Q245* |
probably null |
Het |
| BC048679 |
T |
C |
7: 81,146,612 (GRCm39) |
S2G |
possibly damaging |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| Cacna1d |
T |
C |
14: 29,773,622 (GRCm39) |
T1723A |
probably benign |
Het |
| Chil3 |
A |
T |
3: 106,071,495 (GRCm39) |
Y56* |
probably null |
Het |
| Clec2i |
A |
G |
6: 128,872,384 (GRCm39) |
E172G |
probably damaging |
Het |
| Crybg1 |
C |
T |
10: 43,842,337 (GRCm39) |
D1785N |
probably damaging |
Het |
| Csmd1 |
G |
A |
8: 16,087,260 (GRCm39) |
R1930W |
probably damaging |
Het |
| D430041D05Rik |
A |
C |
2: 103,979,371 (GRCm39) |
S2019A |
possibly damaging |
Het |
| Ep300 |
T |
A |
15: 81,525,512 (GRCm39) |
Y1445* |
probably null |
Het |
| Gne |
A |
G |
4: 44,060,210 (GRCm39) |
I61T |
probably damaging |
Het |
| Ifit3b |
A |
T |
19: 34,588,947 (GRCm39) |
Q41L |
possibly damaging |
Het |
| Kplce |
T |
C |
3: 92,776,354 (GRCm39) |
T110A |
possibly damaging |
Het |
| Llgl2 |
A |
G |
11: 115,734,141 (GRCm39) |
|
probably null |
Het |
| Mast3 |
T |
C |
8: 71,239,376 (GRCm39) |
I417V |
probably benign |
Het |
| Mettl21e |
T |
A |
1: 44,257,295 (GRCm39) |
I8F |
probably benign |
Het |
| Ms4a2 |
A |
G |
19: 11,594,899 (GRCm39) |
Y183H |
probably damaging |
Het |
| Naip6 |
C |
G |
13: 100,435,675 (GRCm39) |
E949D |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,994,874 (GRCm39) |
T181A |
probably benign |
Het |
| Nrg1 |
T |
C |
8: 32,311,292 (GRCm39) |
R476G |
probably damaging |
Het |
| Olfm3 |
A |
T |
3: 114,916,328 (GRCm39) |
Y400F |
probably benign |
Het |
| Or12d2 |
A |
G |
17: 37,625,021 (GRCm39) |
S85P |
probably damaging |
Het |
| Or1e33 |
A |
G |
11: 73,738,240 (GRCm39) |
V237A |
probably benign |
Het |
| Or2a25 |
A |
T |
6: 42,888,852 (GRCm39) |
T132S |
probably benign |
Het |
| Or2y1e |
A |
G |
11: 49,218,808 (GRCm39) |
D190G |
probably benign |
Het |
| Pappa2 |
T |
C |
1: 158,764,438 (GRCm39) |
S358G |
probably benign |
Het |
| Pde4dip |
C |
A |
3: 97,700,564 (GRCm39) |
E259* |
probably null |
Het |
| Phlpp2 |
T |
A |
8: 110,655,197 (GRCm39) |
L664Q |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,390,635 (GRCm39) |
K1262R |
possibly damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Saal1 |
GGCTTGCACGCCGT |
G |
7: 46,349,064 (GRCm39) |
|
probably null |
Het |
| Sec31a |
C |
T |
5: 100,530,671 (GRCm39) |
V701I |
probably benign |
Het |
| Smarca2 |
A |
T |
19: 26,729,286 (GRCm39) |
R12S |
possibly damaging |
Het |
| Spocd1 |
T |
A |
4: 129,847,423 (GRCm39) |
C537* |
probably null |
Het |
| Syt14 |
T |
C |
1: 192,584,161 (GRCm39) |
E701G |
probably damaging |
Het |
| Taf3 |
T |
C |
2: 9,923,028 (GRCm39) |
Y32C |
possibly damaging |
Het |
| Tfeb |
T |
C |
17: 48,100,735 (GRCm39) |
|
probably null |
Het |
| Ttc13 |
C |
A |
8: 125,426,426 (GRCm39) |
R168L |
probably damaging |
Het |
| Vmn2r11 |
T |
A |
5: 109,201,350 (GRCm39) |
N385Y |
probably damaging |
Het |
| Vmn2r54 |
T |
C |
7: 12,363,792 (GRCm39) |
K367R |
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 |
|
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 |
|
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'- TCTGTCACATTCTGGAACTACC -3'
(R):5'- TAAATCACTGTGTCCATGGGG -3'
Sequencing Primer
(F):5'- GAGAAATGCTTCATCAGGCTC -3'
(R):5'- TCCATGGGGATACAGTGGC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation