Incidental Mutation 'R5944:Cfap91'
| ID |
460501 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap91
|
| Ensembl Gene |
ENSMUSG00000022805 |
| Gene Name |
cilia and flagella associated protein 91 |
| Synonyms |
4932425I24Rik, Spata26, Maats1 |
| MMRRC Submission |
044136-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5944 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
38118116-38162222 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 38148672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 252
(T252N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110388
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023501]
[ENSMUST00000114740]
|
| AlphaFold |
Q8BRC6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023501
AA Change: T252N
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000023501
Gene: ENSMUSG00000022805
AA Change: T252N
| 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: T252N
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110388
Gene: ENSMUSG00000022805
AA Change: T252N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PaaSYMP
|
189 |
342 |
1.3e-61 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141896
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
86% (51/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
G |
T |
5: 114,384,041 (GRCm39) |
R2190L |
probably damaging |
Het |
| Ankrd17 |
C |
T |
5: 90,433,702 (GRCm39) |
R689H |
probably damaging |
Het |
| Apol7b |
A |
T |
15: 77,307,967 (GRCm39) |
V176E |
probably damaging |
Het |
| Arsg |
T |
C |
11: 109,426,137 (GRCm39) |
F319S |
probably damaging |
Het |
| Bcar3 |
T |
A |
3: 122,316,932 (GRCm39) |
D634E |
probably benign |
Het |
| Bend7 |
T |
C |
2: 4,749,167 (GRCm39) |
W95R |
probably damaging |
Het |
| Cenpj |
A |
G |
14: 56,791,115 (GRCm39) |
|
probably null |
Het |
| Clasrp |
A |
T |
7: 19,328,431 (GRCm39) |
Y116N |
probably damaging |
Het |
| Cldn17 |
T |
C |
16: 88,303,597 (GRCm39) |
E44G |
probably damaging |
Het |
| Cyfip1 |
G |
A |
7: 55,521,878 (GRCm39) |
E61K |
probably damaging |
Het |
| Dcaf13 |
A |
C |
15: 39,010,072 (GRCm39) |
M419L |
probably benign |
Het |
| Eml4 |
A |
G |
17: 83,753,472 (GRCm39) |
D269G |
possibly damaging |
Het |
| Fap |
T |
C |
2: 62,372,605 (GRCm39) |
Y258C |
probably damaging |
Het |
| Fdxr |
T |
A |
11: 115,160,672 (GRCm39) |
T288S |
probably benign |
Het |
| Frs3 |
T |
C |
17: 48,003,233 (GRCm39) |
|
probably benign |
Het |
| Gm5581 |
T |
A |
6: 131,145,363 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7964 |
A |
G |
7: 83,405,743 (GRCm39) |
D187G |
probably benign |
Het |
| Gpc5 |
T |
C |
14: 115,607,250 (GRCm39) |
V284A |
probably benign |
Het |
| Hspa9 |
T |
C |
18: 35,082,076 (GRCm39) |
T177A |
possibly damaging |
Het |
| Ifi202b |
T |
A |
1: 173,791,365 (GRCm39) |
M438L |
probably benign |
Het |
| Ighv1-3 |
T |
C |
12: 114,445,239 (GRCm39) |
|
probably benign |
Het |
| Krt36 |
G |
T |
11: 99,996,139 (GRCm39) |
A95E |
probably benign |
Het |
| Krt9 |
C |
T |
11: 100,079,265 (GRCm39) |
S709N |
unknown |
Het |
| Lmntd1 |
A |
T |
6: 145,373,042 (GRCm39) |
S164T |
probably damaging |
Het |
| Or14c41 |
T |
A |
7: 86,234,486 (GRCm39) |
M1K |
probably null |
Het |
| Or2ag1b |
A |
T |
7: 106,288,853 (GRCm39) |
C28* |
probably null |
Het |
| Or52n4b |
G |
A |
7: 108,144,484 (GRCm39) |
A249T |
possibly damaging |
Het |
| Or5b94 |
C |
T |
19: 12,652,283 (GRCm39) |
T238I |
probably damaging |
Het |
| Or7a41 |
A |
T |
10: 78,871,223 (GRCm39) |
M198L |
probably benign |
Het |
| Papola |
T |
A |
12: 105,778,644 (GRCm39) |
F341I |
possibly damaging |
Het |
| Phf3 |
A |
G |
1: 30,859,785 (GRCm39) |
L914P |
probably damaging |
Het |
| Sec24d |
T |
C |
3: 123,087,230 (GRCm39) |
V132A |
probably benign |
Het |
| Serpini1 |
G |
A |
3: 75,547,606 (GRCm39) |
D373N |
probably damaging |
Het |
| Sigirr |
T |
C |
7: 140,671,300 (GRCm39) |
Y394C |
probably damaging |
Het |
| Slc29a4 |
G |
A |
5: 142,704,573 (GRCm39) |
E372K |
probably damaging |
Het |
| Slc7a4 |
C |
T |
16: 17,392,220 (GRCm39) |
V405I |
possibly damaging |
Het |
| Spatc1 |
T |
C |
15: 76,168,138 (GRCm39) |
L199P |
probably damaging |
Het |
| Srgap3 |
T |
C |
6: 112,772,775 (GRCm39) |
M149V |
possibly damaging |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Stat3 |
C |
T |
11: 100,785,931 (GRCm39) |
A449T |
probably damaging |
Het |
| Stat4 |
A |
G |
1: 52,113,898 (GRCm39) |
N203D |
probably damaging |
Het |
| Tanc1 |
T |
C |
2: 59,667,564 (GRCm39) |
|
probably null |
Het |
| Trav3-1 |
T |
C |
14: 52,818,449 (GRCm39) |
I41T |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,313,089 (GRCm39) |
D525E |
probably damaging |
Het |
| Vars1 |
T |
C |
17: 35,232,620 (GRCm39) |
V848A |
probably damaging |
Het |
| Vmn2r101 |
A |
T |
17: 19,809,769 (GRCm39) |
D185V |
probably benign |
Het |
| Wiz |
A |
G |
17: 32,576,671 (GRCm39) |
S628P |
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
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 |
|
|
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 |
|
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'- ATGTTTGACTTCACAGAGGTTGAG -3'
(R):5'- CCAGCGGCACCATTTTACATC -3'
Sequencing Primer
(F):5'- TGGATCTCTGAATTCAAGGCCAGC -3'
(R):5'- TCCTAACCCTTGACTCTAGAGCAGG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation