Incidental Mutation 'R6389:Cfap74'
| ID |
515685 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cfap74
|
| Ensembl Gene |
ENSMUSG00000078490 |
| Gene Name |
cilia and flagella associated protein 74 |
| Synonyms |
2010015L04Rik |
| MMRRC Submission |
044538-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6389 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
155493647-155551280 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155507793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 248
(I248T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123626
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000123952]
[ENSMUST00000151083]
|
| AlphaFold |
Q3UY96 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000050128
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000094408
|
| SMART Domains |
Protein: ENSMUSP00000091975
Gene: ENSMUSG00000042233
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
59 |
N/A |
INTRINSIC |
|
coiled coil region
|
134 |
162 |
N/A |
INTRINSIC |
|
coiled coil region
|
333 |
378 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123952
|
| SMART Domains |
Protein: ENSMUSP00000131899
Gene: ENSMUSG00000078490
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
59 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145520
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000151083
AA Change: I248T
PolyPhen 2
Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000123626
Gene: ENSMUSG00000078490
AA Change: I248T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
59 |
N/A |
INTRINSIC |
|
coiled coil region
|
134 |
162 |
N/A |
INTRINSIC |
|
coiled coil region
|
333 |
378 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166921
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.9%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
All alleles(7) : Targeted(2) Gene trapped(5)
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
A |
C |
7: 43,147,254 (GRCm39) |
L326R |
possibly damaging |
Het |
| Abcb11 |
A |
T |
2: 69,154,238 (GRCm39) |
N109K |
probably damaging |
Het |
| Actn1 |
T |
A |
12: 80,221,296 (GRCm39) |
M586L |
probably benign |
Het |
| Ago4 |
T |
A |
4: 126,401,037 (GRCm39) |
I603F |
probably damaging |
Het |
| Bicc1 |
A |
T |
10: 70,794,752 (GRCm39) |
V135D |
probably damaging |
Het |
| Bms1 |
T |
C |
6: 118,380,196 (GRCm39) |
N704D |
possibly damaging |
Het |
| Cadm4 |
A |
C |
7: 24,198,959 (GRCm39) |
Q78P |
probably benign |
Het |
| Clu |
G |
C |
14: 66,208,771 (GRCm39) |
|
probably benign |
Het |
| Cnnm3 |
T |
C |
1: 36,559,603 (GRCm39) |
V514A |
probably damaging |
Het |
| Cntd1 |
A |
T |
11: 101,176,577 (GRCm39) |
I225F |
probably damaging |
Het |
| Col20a1 |
T |
C |
2: 180,634,376 (GRCm39) |
|
probably null |
Het |
| Ctnnal1 |
A |
G |
4: 56,813,849 (GRCm39) |
V640A |
probably benign |
Het |
| Cul4a |
A |
G |
8: 13,190,278 (GRCm39) |
T572A |
probably benign |
Het |
| D16Ertd472e |
A |
G |
16: 78,342,071 (GRCm39) |
S270P |
probably damaging |
Het |
| Dmp1 |
A |
T |
5: 104,360,788 (GRCm39) |
N488I |
probably damaging |
Het |
| Dnah14 |
G |
A |
1: 181,478,767 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
C |
1: 34,232,265 (GRCm39) |
L3464P |
probably damaging |
Het |
| Fnbp4 |
C |
T |
2: 90,575,879 (GRCm39) |
P27S |
unknown |
Het |
| Fpr-rs3 |
A |
T |
17: 20,844,230 (GRCm39) |
F304I |
probably damaging |
Het |
| Gm13941 |
T |
C |
2: 110,928,734 (GRCm39) |
Q108R |
unknown |
Het |
| Hcn3 |
C |
T |
3: 89,058,240 (GRCm39) |
A339T |
possibly damaging |
Het |
| Inpp5f |
A |
G |
7: 128,279,780 (GRCm39) |
D460G |
probably damaging |
Het |
| Ism2 |
T |
C |
12: 87,329,145 (GRCm39) |
E253G |
possibly damaging |
Het |
| Klrg1 |
T |
C |
6: 122,248,431 (GRCm39) |
N156S |
probably damaging |
Het |
| Ksr2 |
A |
G |
5: 117,552,907 (GRCm39) |
N5S |
probably benign |
Het |
| Lrrc7 |
T |
G |
3: 157,891,063 (GRCm39) |
E368A |
probably damaging |
Het |
| Ly9 |
G |
C |
1: 171,424,105 (GRCm39) |
S482C |
probably damaging |
Het |
| Map3k1 |
T |
C |
13: 111,905,975 (GRCm39) |
D289G |
probably damaging |
Het |
| Mcub |
T |
C |
3: 129,712,357 (GRCm39) |
T173A |
probably benign |
Het |
| Mup16 |
T |
C |
4: 61,437,177 (GRCm39) |
E48G |
probably damaging |
Het |
| Naf1 |
C |
T |
8: 67,313,680 (GRCm39) |
S24L |
possibly damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,237,736 (GRCm39) |
S2024P |
probably damaging |
Het |
| Nop56 |
C |
A |
2: 130,119,807 (GRCm39) |
Q83K |
probably damaging |
Het |
| Nt5e |
T |
C |
9: 88,245,524 (GRCm39) |
Y265H |
probably damaging |
Het |
| Odad1 |
G |
T |
7: 45,597,940 (GRCm39) |
V617F |
probably benign |
Het |
| Or4a27 |
A |
G |
2: 88,559,016 (GRCm39) |
V309A |
probably benign |
Het |
| Or52p2 |
A |
T |
7: 102,237,679 (GRCm39) |
N90K |
probably benign |
Het |
| Or5w8 |
C |
T |
2: 87,688,367 (GRCm39) |
P283S |
probably damaging |
Het |
| Oxct2a |
T |
A |
4: 123,217,220 (GRCm39) |
K54* |
probably null |
Het |
| Oxct2b |
G |
T |
4: 123,010,367 (GRCm39) |
D96Y |
probably benign |
Het |
| Pisd |
A |
G |
5: 32,922,191 (GRCm39) |
Y250H |
probably damaging |
Het |
| Plekhm1 |
G |
T |
11: 103,257,720 (GRCm39) |
N1071K |
probably benign |
Het |
| Prr11 |
G |
A |
11: 86,989,564 (GRCm39) |
T269I |
possibly damaging |
Het |
| Ptpn4 |
T |
A |
1: 119,649,684 (GRCm39) |
H304L |
probably damaging |
Het |
| Rrp1b |
A |
G |
17: 32,275,601 (GRCm39) |
K383E |
possibly damaging |
Het |
| Sel1l2 |
C |
A |
2: 140,087,274 (GRCm39) |
A466S |
probably damaging |
Het |
| Slc9a4 |
A |
G |
1: 40,619,844 (GRCm39) |
I57V |
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,977,137 (GRCm39) |
E81G |
probably damaging |
Het |
| Tbr1 |
A |
G |
2: 61,636,631 (GRCm39) |
|
probably benign |
Het |
| Tnrc6c |
A |
G |
11: 117,613,567 (GRCm39) |
D735G |
probably damaging |
Het |
| Tspan17 |
A |
T |
13: 54,943,429 (GRCm39) |
|
probably null |
Het |
| Tyw5 |
T |
C |
1: 57,430,658 (GRCm39) |
K175R |
probably damaging |
Het |
| Ube2o |
A |
C |
11: 116,439,684 (GRCm39) |
I162R |
probably null |
Het |
| Ubr1 |
G |
T |
2: 120,711,520 (GRCm39) |
T1458K |
probably benign |
Het |
| Vmn2r16 |
A |
T |
5: 109,478,344 (GRCm39) |
Q33L |
probably benign |
Het |
| Zfp1007 |
G |
A |
5: 109,823,885 (GRCm39) |
P522S |
possibly damaging |
Het |
| Zfp799 |
A |
G |
17: 33,039,552 (GRCm39) |
L238P |
probably damaging |
Het |
|
| Other mutations in Cfap74 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01607:Cfap74
|
APN |
4 |
155,503,443 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
paranoid
|
UTSW |
4 |
155,538,481 (GRCm39) |
utr 5 prime |
probably benign |
|
|
sensibile
|
UTSW |
4 |
155,525,743 (GRCm39) |
missense |
probably null |
0.03 |
|
touchy
|
UTSW |
4 |
155,547,529 (GRCm39) |
missense |
probably benign |
0.27 |
|
FR4304:Cfap74
|
UTSW |
4 |
155,500,217 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
P0007:Cfap74
|
UTSW |
4 |
155,506,685 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
PIT4434001:Cfap74
|
UTSW |
4 |
155,548,421 (GRCm39) |
missense |
unknown |
|
|
R0025:Cfap74
|
UTSW |
4 |
155,510,572 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0034:Cfap74
|
UTSW |
4 |
155,545,344 (GRCm39) |
splice site |
probably benign |
|
|
R0193:Cfap74
|
UTSW |
4 |
155,510,572 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0306:Cfap74
|
UTSW |
4 |
155,549,896 (GRCm39) |
unclassified |
probably benign |
|
|
R0427:Cfap74
|
UTSW |
4 |
155,525,734 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0905:Cfap74
|
UTSW |
4 |
155,503,153 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1116:Cfap74
|
UTSW |
4 |
155,518,453 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1548:Cfap74
|
UTSW |
4 |
155,518,502 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1950:Cfap74
|
UTSW |
4 |
155,511,887 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2009:Cfap74
|
UTSW |
4 |
155,504,724 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2029:Cfap74
|
UTSW |
4 |
155,526,538 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2135:Cfap74
|
UTSW |
4 |
155,514,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2135:Cfap74
|
UTSW |
4 |
155,514,397 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2154:Cfap74
|
UTSW |
4 |
155,513,753 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2413:Cfap74
|
UTSW |
4 |
155,503,081 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2418:Cfap74
|
UTSW |
4 |
155,540,166 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R2930:Cfap74
|
UTSW |
4 |
155,522,627 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3965:Cfap74
|
UTSW |
4 |
155,531,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4078:Cfap74
|
UTSW |
4 |
155,540,128 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4238:Cfap74
|
UTSW |
4 |
155,547,529 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4239:Cfap74
|
UTSW |
4 |
155,547,529 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4240:Cfap74
|
UTSW |
4 |
155,547,529 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4491:Cfap74
|
UTSW |
4 |
155,513,628 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4731:Cfap74
|
UTSW |
4 |
155,548,059 (GRCm39) |
intron |
probably benign |
|
|
R5333:Cfap74
|
UTSW |
4 |
155,521,197 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5362:Cfap74
|
UTSW |
4 |
155,522,623 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5425:Cfap74
|
UTSW |
4 |
155,540,149 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5468:Cfap74
|
UTSW |
4 |
155,510,498 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5839:Cfap74
|
UTSW |
4 |
155,507,207 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6010:Cfap74
|
UTSW |
4 |
155,538,495 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6284:Cfap74
|
UTSW |
4 |
155,536,253 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6323:Cfap74
|
UTSW |
4 |
155,548,395 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6513:Cfap74
|
UTSW |
4 |
155,525,743 (GRCm39) |
missense |
probably null |
0.03 |
|
R6527:Cfap74
|
UTSW |
4 |
155,506,722 (GRCm39) |
splice site |
probably null |
|
|
R6785:Cfap74
|
UTSW |
4 |
155,538,481 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R6980:Cfap74
|
UTSW |
4 |
155,550,809 (GRCm39) |
unclassified |
probably benign |
|
|
R7039:Cfap74
|
UTSW |
4 |
155,538,565 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7077:Cfap74
|
UTSW |
4 |
155,540,134 (GRCm39) |
missense |
unknown |
|
|
R7116:Cfap74
|
UTSW |
4 |
155,539,518 (GRCm39) |
missense |
unknown |
|
|
R7202:Cfap74
|
UTSW |
4 |
155,510,654 (GRCm39) |
splice site |
probably null |
|
|
R7227:Cfap74
|
UTSW |
4 |
155,545,405 (GRCm39) |
nonsense |
probably null |
|
|
R7228:Cfap74
|
UTSW |
4 |
155,549,507 (GRCm39) |
missense |
unknown |
|
|
R7261:Cfap74
|
UTSW |
4 |
155,549,831 (GRCm39) |
missense |
unknown |
|
|
R7315:Cfap74
|
UTSW |
4 |
155,547,476 (GRCm39) |
missense |
unknown |
|
|
R7337:Cfap74
|
UTSW |
4 |
155,544,472 (GRCm39) |
missense |
unknown |
|
|
R7354:Cfap74
|
UTSW |
4 |
155,549,804 (GRCm39) |
missense |
unknown |
|
|
R7533:Cfap74
|
UTSW |
4 |
155,500,200 (GRCm39) |
missense |
|
|
|
R7673:Cfap74
|
UTSW |
4 |
155,547,513 (GRCm39) |
missense |
unknown |
|
|
R7798:Cfap74
|
UTSW |
4 |
155,507,079 (GRCm39) |
missense |
|
|
|
R7829:Cfap74
|
UTSW |
4 |
155,513,694 (GRCm39) |
missense |
|
|
|
R7897:Cfap74
|
UTSW |
4 |
155,514,351 (GRCm39) |
missense |
|
|
|
R8099:Cfap74
|
UTSW |
4 |
155,539,489 (GRCm39) |
missense |
unknown |
|
|
R8126:Cfap74
|
UTSW |
4 |
155,511,831 (GRCm39) |
missense |
|
|
|
R8769:Cfap74
|
UTSW |
4 |
155,503,105 (GRCm39) |
missense |
|
|
|
R8873:Cfap74
|
UTSW |
4 |
155,539,465 (GRCm39) |
missense |
unknown |
|
|
R8893:Cfap74
|
UTSW |
4 |
155,531,152 (GRCm39) |
missense |
unknown |
|
|
R8900:Cfap74
|
UTSW |
4 |
155,521,187 (GRCm39) |
missense |
|
|
|
R8954:Cfap74
|
UTSW |
4 |
155,521,187 (GRCm39) |
missense |
|
|
|
R8957:Cfap74
|
UTSW |
4 |
155,521,187 (GRCm39) |
missense |
|
|
|
R8982:Cfap74
|
UTSW |
4 |
155,521,187 (GRCm39) |
missense |
|
|
|
R9008:Cfap74
|
UTSW |
4 |
155,503,121 (GRCm39) |
missense |
|
|
|
R9406:Cfap74
|
UTSW |
4 |
155,510,626 (GRCm39) |
nonsense |
probably null |
|
|
R9606:Cfap74
|
UTSW |
4 |
155,509,133 (GRCm39) |
missense |
|
|
|
R9641:Cfap74
|
UTSW |
4 |
155,549,054 (GRCm39) |
missense |
unknown |
|
|
R9647:Cfap74
|
UTSW |
4 |
155,549,373 (GRCm39) |
missense |
unknown |
|
|
R9655:Cfap74
|
UTSW |
4 |
155,522,665 (GRCm39) |
missense |
|
|
|
R9761:Cfap74
|
UTSW |
4 |
155,550,844 (GRCm39) |
missense |
unknown |
|
|
R9797:Cfap74
|
UTSW |
4 |
155,514,402 (GRCm39) |
missense |
|
|
|
T0970:Cfap74
|
UTSW |
4 |
155,547,574 (GRCm39) |
splice site |
probably null |
|
|
X0066:Cfap74
|
UTSW |
4 |
155,548,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Cfap74
|
UTSW |
4 |
155,510,575 (GRCm39) |
missense |
|
|
|
Z1177:Cfap74
|
UTSW |
4 |
155,539,370 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTCCTCACACTGGAGGTC -3'
(R):5'- TACACTCTAGGGCTTCATTGTG -3'
Sequencing Primer
(F):5'- GAGGTCCCAGCTGCACTTTAATATC -3'
(R):5'- TGCTCCTCTTGCAAATACAAATAGC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation