Incidental Mutation 'R1523:Fndc1'
ID |
167669 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fndc1
|
Ensembl Gene |
ENSMUSG00000071984 |
Gene Name |
fibronectin type III domain containing 1 |
Synonyms |
1110027O12Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R1523 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
7957401-8046134 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 7992041 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 552
(S552P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095036
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097425]
|
AlphaFold |
A0A6I8MWX0 |
Predicted Effect |
unknown
Transcript: ENSMUST00000097425
AA Change: S552P
|
SMART Domains |
Protein: ENSMUSP00000095036 Gene: ENSMUSG00000071984 AA Change: S552P
Domain | Start | End | E-Value | Type |
Blast:FN3
|
1 |
50 |
6e-25 |
BLAST |
FN3
|
54 |
137 |
7.82e-4 |
SMART |
FN3
|
156 |
240 |
1.48e-4 |
SMART |
FN3
|
256 |
340 |
3.67e-9 |
SMART |
low complexity region
|
377 |
388 |
N/A |
INTRINSIC |
low complexity region
|
579 |
601 |
N/A |
INTRINSIC |
low complexity region
|
646 |
676 |
N/A |
INTRINSIC |
low complexity region
|
766 |
777 |
N/A |
INTRINSIC |
low complexity region
|
868 |
884 |
N/A |
INTRINSIC |
low complexity region
|
1021 |
1027 |
N/A |
INTRINSIC |
low complexity region
|
1036 |
1050 |
N/A |
INTRINSIC |
low complexity region
|
1076 |
1090 |
N/A |
INTRINSIC |
Blast:FN3
|
1227 |
1276 |
2e-18 |
BLAST |
low complexity region
|
1277 |
1354 |
N/A |
INTRINSIC |
low complexity region
|
1395 |
1403 |
N/A |
INTRINSIC |
low complexity region
|
1407 |
1423 |
N/A |
INTRINSIC |
FN3
|
1494 |
1577 |
4.32e-6 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020L24Rik |
G |
T |
11: 83,331,232 (GRCm39) |
E48* |
probably null |
Het |
4930503B20Rik |
A |
G |
3: 146,356,864 (GRCm39) |
S15P |
probably damaging |
Het |
5530400C23Rik |
A |
G |
6: 133,271,256 (GRCm39) |
E100G |
possibly damaging |
Het |
Abcg2 |
T |
C |
6: 58,662,679 (GRCm39) |
F507S |
possibly damaging |
Het |
Adgrf5 |
A |
T |
17: 43,761,044 (GRCm39) |
Q913L |
probably benign |
Het |
Ak7 |
A |
T |
12: 105,732,867 (GRCm39) |
N537I |
probably benign |
Het |
Anks1 |
T |
A |
17: 28,270,629 (GRCm39) |
|
probably null |
Het |
Arhgap32 |
T |
A |
9: 32,168,048 (GRCm39) |
V677D |
probably damaging |
Het |
Ark2c |
G |
A |
18: 77,550,634 (GRCm39) |
T98I |
probably benign |
Het |
Arnt |
C |
T |
3: 95,396,965 (GRCm39) |
P466L |
possibly damaging |
Het |
Arrb1 |
T |
G |
7: 99,243,872 (GRCm39) |
L274R |
probably damaging |
Het |
Atf2 |
A |
T |
2: 73,693,552 (GRCm39) |
D3E |
probably damaging |
Het |
Baz2b |
C |
T |
2: 59,798,981 (GRCm39) |
R381Q |
possibly damaging |
Het |
Cacna1g |
C |
T |
11: 94,333,555 (GRCm39) |
|
probably null |
Het |
Ccr10 |
C |
T |
11: 101,064,501 (GRCm39) |
R343Q |
probably damaging |
Het |
Clca3a2 |
G |
T |
3: 144,777,405 (GRCm39) |
S822* |
probably null |
Het |
Col12a1 |
A |
T |
9: 79,568,278 (GRCm39) |
Y1649N |
probably benign |
Het |
Col23a1 |
G |
A |
11: 51,452,743 (GRCm39) |
|
probably null |
Het |
Cp |
T |
C |
3: 20,043,229 (GRCm39) |
Y1006H |
probably benign |
Het |
Ctbs |
A |
G |
3: 146,160,735 (GRCm39) |
T101A |
probably benign |
Het |
Cyp4a31 |
T |
C |
4: 115,426,951 (GRCm39) |
F170L |
probably benign |
Het |
Dock1 |
A |
C |
7: 134,345,976 (GRCm39) |
I173L |
possibly damaging |
Het |
Dock4 |
A |
G |
12: 40,743,024 (GRCm39) |
D393G |
possibly damaging |
Het |
Dsg1a |
T |
A |
18: 20,455,374 (GRCm39) |
S113T |
probably damaging |
Het |
Epha3 |
T |
C |
16: 63,431,311 (GRCm39) |
D530G |
probably damaging |
Het |
Erbb4 |
T |
A |
1: 68,435,411 (GRCm39) |
H162L |
possibly damaging |
Het |
Fam131c |
C |
T |
4: 141,110,142 (GRCm39) |
T180I |
probably benign |
Het |
Foxf1 |
A |
G |
8: 121,811,297 (GRCm39) |
|
probably null |
Het |
Frem2 |
T |
C |
3: 53,562,828 (GRCm39) |
T560A |
possibly damaging |
Het |
Gabra4 |
G |
A |
5: 71,790,975 (GRCm39) |
T289M |
probably damaging |
Het |
Gcnt1 |
A |
G |
19: 17,307,197 (GRCm39) |
V176A |
probably damaging |
Het |
Gemin8 |
G |
A |
X: 164,963,644 (GRCm39) |
S100N |
probably benign |
Het |
Gm1527 |
T |
C |
3: 28,974,567 (GRCm39) |
I460T |
probably damaging |
Het |
Gm6729 |
A |
G |
10: 86,376,039 (GRCm39) |
|
noncoding transcript |
Het |
Gprin2 |
T |
C |
14: 33,917,036 (GRCm39) |
S245G |
probably benign |
Het |
Gsdmc |
A |
T |
15: 63,675,479 (GRCm39) |
I112N |
probably damaging |
Het |
Hspb6 |
A |
G |
7: 30,252,848 (GRCm39) |
D30G |
probably benign |
Het |
Hydin |
A |
G |
8: 111,259,903 (GRCm39) |
D2625G |
probably benign |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Irf2 |
T |
A |
8: 47,290,875 (GRCm39) |
|
probably null |
Het |
Kdm3b |
T |
C |
18: 34,926,226 (GRCm39) |
|
probably null |
Het |
Khdc3 |
G |
A |
9: 73,010,773 (GRCm39) |
E208K |
possibly damaging |
Het |
Kifc1 |
A |
T |
17: 34,102,636 (GRCm39) |
S263T |
probably benign |
Het |
Lrig3 |
C |
A |
10: 125,844,567 (GRCm39) |
T677K |
probably damaging |
Het |
Magec2 |
T |
A |
X: 61,334,512 (GRCm39) |
D177E |
probably benign |
Het |
Mapkapk3 |
A |
T |
9: 107,140,822 (GRCm39) |
|
probably null |
Het |
Mertk |
T |
C |
2: 128,632,248 (GRCm39) |
|
probably null |
Het |
Metrn |
A |
G |
17: 26,013,951 (GRCm39) |
*292R |
probably null |
Het |
Mllt6 |
G |
T |
11: 97,555,849 (GRCm39) |
A60S |
probably damaging |
Het |
Mmp21 |
T |
C |
7: 133,280,774 (GRCm39) |
I65M |
probably benign |
Het |
Myo7b |
A |
G |
18: 32,099,929 (GRCm39) |
L1651P |
probably damaging |
Het |
Nhsl1 |
A |
G |
10: 18,284,103 (GRCm39) |
S15G |
probably benign |
Het |
Nos1ap |
T |
C |
1: 170,165,687 (GRCm39) |
D192G |
probably benign |
Het |
Nrcam |
A |
G |
12: 44,619,032 (GRCm39) |
T844A |
probably damaging |
Het |
Pax4 |
A |
G |
6: 28,444,840 (GRCm39) |
L203P |
probably damaging |
Het |
Pbld2 |
T |
C |
10: 62,912,212 (GRCm39) |
I280T |
probably benign |
Het |
Pclo |
A |
G |
5: 14,838,420 (GRCm39) |
Y4681C |
unknown |
Het |
Phyhip |
T |
A |
14: 70,699,200 (GRCm39) |
M1K |
probably null |
Het |
Plppr4 |
T |
C |
3: 117,116,490 (GRCm39) |
N456D |
probably damaging |
Het |
Prpf31 |
T |
C |
7: 3,643,856 (GRCm39) |
Y473H |
probably damaging |
Het |
Rapgef2 |
A |
T |
3: 79,000,056 (GRCm39) |
V564D |
probably damaging |
Het |
Rexo1 |
T |
C |
10: 80,378,585 (GRCm39) |
S1123G |
probably benign |
Het |
Rnasel |
C |
A |
1: 153,631,759 (GRCm39) |
Q513K |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,332,714 (GRCm39) |
V2641A |
probably damaging |
Het |
Rnf40 |
G |
T |
7: 127,189,787 (GRCm39) |
R184L |
probably damaging |
Het |
Rnf8 |
A |
G |
17: 29,845,946 (GRCm39) |
K179R |
probably damaging |
Het |
Sipa1l2 |
C |
T |
8: 126,174,352 (GRCm39) |
D1309N |
possibly damaging |
Het |
Slc25a38 |
T |
A |
9: 119,952,769 (GRCm39) |
M307K |
possibly damaging |
Het |
Snx33 |
T |
C |
9: 56,833,466 (GRCm39) |
D201G |
possibly damaging |
Het |
Sulf1 |
T |
A |
1: 12,887,574 (GRCm39) |
Y249* |
probably null |
Het |
Sult2a4 |
G |
A |
7: 13,643,785 (GRCm39) |
Q261* |
probably null |
Het |
Syndig1 |
G |
A |
2: 149,845,154 (GRCm39) |
A226T |
probably damaging |
Het |
Tcaf2 |
C |
T |
6: 42,601,385 (GRCm39) |
W891* |
probably null |
Het |
Tcf15 |
C |
A |
2: 151,985,808 (GRCm39) |
T88K |
probably damaging |
Het |
Tmem19 |
A |
T |
10: 115,183,122 (GRCm39) |
M117K |
probably damaging |
Het |
Trim32 |
T |
C |
4: 65,532,241 (GRCm39) |
L266P |
probably benign |
Het |
Vmn2r11 |
T |
C |
5: 109,201,707 (GRCm39) |
I266V |
probably benign |
Het |
Vmn2r73 |
A |
T |
7: 85,519,486 (GRCm39) |
Y491N |
probably benign |
Het |
Wrn |
C |
T |
8: 33,782,744 (GRCm39) |
E486K |
probably benign |
Het |
Zfp457 |
T |
C |
13: 67,441,501 (GRCm39) |
E262G |
probably damaging |
Het |
Zfp598 |
A |
G |
17: 24,897,603 (GRCm39) |
D308G |
probably null |
Het |
Zup1 |
T |
C |
10: 33,803,436 (GRCm39) |
I549M |
probably damaging |
Het |
|
Other mutations in Fndc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00513:Fndc1
|
APN |
17 |
7,984,086 (GRCm39) |
missense |
unknown |
|
IGL00590:Fndc1
|
APN |
17 |
7,983,933 (GRCm39) |
missense |
unknown |
|
IGL00765:Fndc1
|
APN |
17 |
7,991,525 (GRCm39) |
missense |
unknown |
|
IGL00904:Fndc1
|
APN |
17 |
7,975,195 (GRCm39) |
missense |
probably benign |
0.35 |
IGL01153:Fndc1
|
APN |
17 |
7,998,874 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01557:Fndc1
|
APN |
17 |
7,975,221 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02493:Fndc1
|
APN |
17 |
7,994,377 (GRCm39) |
missense |
unknown |
|
IGL02501:Fndc1
|
APN |
17 |
7,984,230 (GRCm39) |
missense |
unknown |
|
IGL02503:Fndc1
|
APN |
17 |
7,990,348 (GRCm39) |
missense |
unknown |
|
IGL02887:Fndc1
|
APN |
17 |
7,992,470 (GRCm39) |
missense |
unknown |
|
IGL03348:Fndc1
|
APN |
17 |
7,991,479 (GRCm39) |
missense |
unknown |
|
pinnacle
|
UTSW |
17 |
7,992,154 (GRCm39) |
missense |
unknown |
|
spire
|
UTSW |
17 |
7,990,312 (GRCm39) |
missense |
unknown |
|
IGL02988:Fndc1
|
UTSW |
17 |
7,972,355 (GRCm39) |
missense |
possibly damaging |
0.95 |
PIT4466001:Fndc1
|
UTSW |
17 |
7,969,206 (GRCm39) |
missense |
probably damaging |
1.00 |
R0336:Fndc1
|
UTSW |
17 |
7,983,939 (GRCm39) |
missense |
unknown |
|
R0403:Fndc1
|
UTSW |
17 |
7,994,420 (GRCm39) |
splice site |
probably null |
|
R0403:Fndc1
|
UTSW |
17 |
7,972,555 (GRCm39) |
missense |
probably damaging |
1.00 |
R0538:Fndc1
|
UTSW |
17 |
8,003,173 (GRCm39) |
splice site |
probably benign |
|
R0646:Fndc1
|
UTSW |
17 |
7,960,505 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1140:Fndc1
|
UTSW |
17 |
7,994,258 (GRCm39) |
missense |
unknown |
|
R1609:Fndc1
|
UTSW |
17 |
7,991,598 (GRCm39) |
missense |
unknown |
|
R1632:Fndc1
|
UTSW |
17 |
7,992,032 (GRCm39) |
missense |
unknown |
|
R1888:Fndc1
|
UTSW |
17 |
7,990,621 (GRCm39) |
missense |
unknown |
|
R1888:Fndc1
|
UTSW |
17 |
7,990,621 (GRCm39) |
missense |
unknown |
|
R2004:Fndc1
|
UTSW |
17 |
8,023,761 (GRCm39) |
missense |
probably damaging |
1.00 |
R2007:Fndc1
|
UTSW |
17 |
7,997,580 (GRCm39) |
unclassified |
probably benign |
|
R2128:Fndc1
|
UTSW |
17 |
7,997,497 (GRCm39) |
unclassified |
probably benign |
|
R2187:Fndc1
|
UTSW |
17 |
7,960,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R2251:Fndc1
|
UTSW |
17 |
7,972,439 (GRCm39) |
missense |
probably damaging |
1.00 |
R2322:Fndc1
|
UTSW |
17 |
8,007,847 (GRCm39) |
missense |
probably damaging |
0.98 |
R2425:Fndc1
|
UTSW |
17 |
8,023,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R2921:Fndc1
|
UTSW |
17 |
8,023,707 (GRCm39) |
missense |
probably damaging |
0.98 |
R2985:Fndc1
|
UTSW |
17 |
7,975,155 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3436:Fndc1
|
UTSW |
17 |
7,969,189 (GRCm39) |
missense |
probably damaging |
0.99 |
R3499:Fndc1
|
UTSW |
17 |
7,972,416 (GRCm39) |
missense |
possibly damaging |
0.70 |
R3508:Fndc1
|
UTSW |
17 |
7,983,940 (GRCm39) |
nonsense |
probably null |
|
R3766:Fndc1
|
UTSW |
17 |
8,003,253 (GRCm39) |
missense |
probably damaging |
1.00 |
R3813:Fndc1
|
UTSW |
17 |
7,992,154 (GRCm39) |
missense |
unknown |
|
R3814:Fndc1
|
UTSW |
17 |
7,992,154 (GRCm39) |
missense |
unknown |
|
R4031:Fndc1
|
UTSW |
17 |
7,988,584 (GRCm39) |
nonsense |
probably null |
|
R4544:Fndc1
|
UTSW |
17 |
7,992,376 (GRCm39) |
missense |
unknown |
|
R4583:Fndc1
|
UTSW |
17 |
7,958,081 (GRCm39) |
missense |
probably damaging |
1.00 |
R4619:Fndc1
|
UTSW |
17 |
7,984,036 (GRCm39) |
missense |
unknown |
|
R4700:Fndc1
|
UTSW |
17 |
7,990,312 (GRCm39) |
missense |
unknown |
|
R4743:Fndc1
|
UTSW |
17 |
7,991,111 (GRCm39) |
nonsense |
probably null |
|
R4803:Fndc1
|
UTSW |
17 |
7,972,538 (GRCm39) |
missense |
probably damaging |
0.98 |
R4862:Fndc1
|
UTSW |
17 |
7,988,567 (GRCm39) |
missense |
unknown |
|
R4876:Fndc1
|
UTSW |
17 |
7,990,471 (GRCm39) |
missense |
unknown |
|
R5057:Fndc1
|
UTSW |
17 |
7,990,802 (GRCm39) |
nonsense |
probably null |
|
R5327:Fndc1
|
UTSW |
17 |
7,991,540 (GRCm39) |
missense |
unknown |
|
R5372:Fndc1
|
UTSW |
17 |
7,984,042 (GRCm39) |
missense |
unknown |
|
R5533:Fndc1
|
UTSW |
17 |
7,991,608 (GRCm39) |
missense |
unknown |
|
R5754:Fndc1
|
UTSW |
17 |
7,988,585 (GRCm39) |
missense |
unknown |
|
R5762:Fndc1
|
UTSW |
17 |
7,990,366 (GRCm39) |
missense |
unknown |
|
R5830:Fndc1
|
UTSW |
17 |
8,007,918 (GRCm39) |
missense |
possibly damaging |
0.87 |
R5924:Fndc1
|
UTSW |
17 |
7,992,442 (GRCm39) |
missense |
unknown |
|
R6147:Fndc1
|
UTSW |
17 |
7,972,594 (GRCm39) |
splice site |
probably null |
|
R6175:Fndc1
|
UTSW |
17 |
7,991,479 (GRCm39) |
missense |
unknown |
|
R6303:Fndc1
|
UTSW |
17 |
7,977,317 (GRCm39) |
missense |
probably damaging |
0.98 |
R6377:Fndc1
|
UTSW |
17 |
7,988,567 (GRCm39) |
missense |
unknown |
|
R6704:Fndc1
|
UTSW |
17 |
7,990,642 (GRCm39) |
missense |
unknown |
|
R6857:Fndc1
|
UTSW |
17 |
7,991,002 (GRCm39) |
missense |
unknown |
|
R6865:Fndc1
|
UTSW |
17 |
7,991,672 (GRCm39) |
missense |
unknown |
|
R7069:Fndc1
|
UTSW |
17 |
7,988,567 (GRCm39) |
missense |
unknown |
|
R7153:Fndc1
|
UTSW |
17 |
8,020,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R7159:Fndc1
|
UTSW |
17 |
8,019,763 (GRCm39) |
missense |
probably damaging |
0.97 |
R7359:Fndc1
|
UTSW |
17 |
8,032,318 (GRCm39) |
splice site |
probably null |
|
R7731:Fndc1
|
UTSW |
17 |
7,992,271 (GRCm39) |
missense |
unknown |
|
R7743:Fndc1
|
UTSW |
17 |
7,983,969 (GRCm39) |
missense |
unknown |
|
R7884:Fndc1
|
UTSW |
17 |
7,992,029 (GRCm39) |
missense |
unknown |
|
R8071:Fndc1
|
UTSW |
17 |
7,991,362 (GRCm39) |
missense |
unknown |
|
R8100:Fndc1
|
UTSW |
17 |
7,990,685 (GRCm39) |
missense |
unknown |
|
R8317:Fndc1
|
UTSW |
17 |
8,019,720 (GRCm39) |
nonsense |
probably null |
|
R8362:Fndc1
|
UTSW |
17 |
8,001,207 (GRCm39) |
missense |
unknown |
|
R8835:Fndc1
|
UTSW |
17 |
7,958,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R8841:Fndc1
|
UTSW |
17 |
7,992,181 (GRCm39) |
missense |
unknown |
|
R8912:Fndc1
|
UTSW |
17 |
8,019,778 (GRCm39) |
missense |
probably null |
0.26 |
R9236:Fndc1
|
UTSW |
17 |
7,992,460 (GRCm39) |
missense |
unknown |
|
R9392:Fndc1
|
UTSW |
17 |
7,991,957 (GRCm39) |
missense |
unknown |
|
R9412:Fndc1
|
UTSW |
17 |
7,991,198 (GRCm39) |
missense |
unknown |
|
R9618:Fndc1
|
UTSW |
17 |
7,990,313 (GRCm39) |
missense |
unknown |
|
R9632:Fndc1
|
UTSW |
17 |
7,991,622 (GRCm39) |
missense |
unknown |
|
R9748:Fndc1
|
UTSW |
17 |
7,991,929 (GRCm39) |
missense |
unknown |
|
Z1088:Fndc1
|
UTSW |
17 |
8,001,311 (GRCm39) |
missense |
probably damaging |
0.96 |
Z1176:Fndc1
|
UTSW |
17 |
8,023,709 (GRCm39) |
missense |
possibly damaging |
0.90 |
Z1176:Fndc1
|
UTSW |
17 |
7,992,425 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACATCCTGGCGATCCCTAGAAAGTG -3'
(R):5'- CGGTTGGAGACCCTAAATCAGAAGC -3'
Sequencing Primer
(F):5'- ATCCCTAGAAAGTGCGGGTC -3'
(R):5'- TGACTCCTGGTAGGACTCC -3'
|
Posted On |
2014-04-13 |