Incidental Mutation 'R7153:Fndc1'
ID |
554285 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fndc1
|
Ensembl Gene |
ENSMUSG00000071984 |
Gene Name |
fibronectin type III domain containing 1 |
Synonyms |
1110027O12Rik |
MMRRC Submission |
045255-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R7153 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
7957401-8046134 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 8020477 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 102
(V102A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126701
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097425]
[ENSMUST00000167580]
[ENSMUST00000169126]
|
AlphaFold |
A0A6I8MWX0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000097425
|
SMART Domains |
Protein: ENSMUSP00000095036 Gene: ENSMUSG00000071984
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167580
|
SMART Domains |
Protein: ENSMUSP00000130996 Gene: ENSMUSG00000071984
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
FN3
|
38 |
121 |
7.82e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000169126
AA Change: V102A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126701 Gene: ENSMUSG00000071984 AA Change: V102A
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
30 |
N/A |
INTRINSIC |
FN3
|
37 |
117 |
1.22e-5 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (75/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano2 |
A |
G |
6: 125,969,906 (GRCm39) |
T741A |
possibly damaging |
Het |
Aox4 |
T |
C |
1: 58,289,378 (GRCm39) |
M767T |
probably damaging |
Het |
Arhgap39 |
C |
A |
15: 76,649,691 (GRCm39) |
S27I |
probably benign |
Het |
AU018091 |
T |
A |
7: 3,209,353 (GRCm39) |
M296L |
probably benign |
Het |
Axin1 |
A |
G |
17: 26,406,942 (GRCm39) |
T512A |
probably benign |
Het |
B4galnt3 |
A |
T |
6: 120,191,929 (GRCm39) |
D602E |
probably benign |
Het |
Bcl6 |
G |
A |
16: 23,784,976 (GRCm39) |
R675* |
probably null |
Het |
Bsnd |
A |
T |
4: 106,349,230 (GRCm39) |
D3E |
probably benign |
Het |
Btbd18 |
C |
T |
2: 84,496,772 (GRCm39) |
R137* |
probably null |
Het |
C2cd5 |
A |
G |
6: 142,965,135 (GRCm39) |
S871P |
probably benign |
Het |
Cobl |
G |
T |
11: 12,204,128 (GRCm39) |
P858Q |
probably damaging |
Het |
Col6a1 |
C |
T |
10: 76,546,175 (GRCm39) |
|
probably null |
Het |
Crb2 |
A |
T |
2: 37,677,420 (GRCm39) |
H304L |
probably benign |
Het |
Crybg1 |
T |
A |
10: 43,840,662 (GRCm39) |
Y1812F |
possibly damaging |
Het |
Ddx60 |
A |
T |
8: 62,441,142 (GRCm39) |
K1070N |
possibly damaging |
Het |
Defb22 |
T |
C |
2: 152,327,840 (GRCm39) |
K115R |
unknown |
Het |
Dhx8 |
C |
T |
11: 101,631,001 (GRCm39) |
|
probably null |
Het |
Dnah5 |
T |
A |
15: 28,365,668 (GRCm39) |
|
probably null |
Het |
Dnah7b |
T |
A |
1: 46,165,964 (GRCm39) |
F543Y |
probably benign |
Het |
Ehhadh |
A |
G |
16: 21,585,071 (GRCm39) |
F270S |
probably damaging |
Het |
Esyt2 |
A |
G |
12: 116,310,128 (GRCm39) |
M397V |
probably benign |
Het |
Fanca |
A |
T |
8: 124,043,164 (GRCm39) |
L74H |
probably damaging |
Het |
Fbxl17 |
C |
A |
17: 63,367,346 (GRCm39) |
V676F |
probably benign |
Het |
Gpalpp1 |
T |
C |
14: 76,332,451 (GRCm39) |
Y273C |
probably damaging |
Het |
Gpatch8 |
TTCCTCCTCCTCCTCTTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC |
11: 102,371,014 (GRCm39) |
|
probably benign |
Het |
Grik2 |
T |
C |
10: 49,411,463 (GRCm39) |
H225R |
probably benign |
Het |
Helz2 |
A |
T |
2: 180,873,078 (GRCm39) |
S2411T |
probably benign |
Het |
Hnmt |
C |
T |
2: 23,904,353 (GRCm39) |
A103T |
probably damaging |
Het |
Ighv15-2 |
G |
T |
12: 114,528,210 (GRCm39) |
Y114* |
probably null |
Het |
Irak2 |
A |
G |
6: 113,655,670 (GRCm39) |
H357R |
probably benign |
Het |
Kcp |
T |
C |
6: 29,499,014 (GRCm39) |
E320G |
probably damaging |
Het |
Kpna4 |
A |
G |
3: 68,997,131 (GRCm39) |
L352S |
probably damaging |
Het |
Krt36 |
G |
A |
11: 99,995,972 (GRCm39) |
Q151* |
probably null |
Het |
Krt77 |
G |
A |
15: 101,773,931 (GRCm39) |
T241M |
probably benign |
Het |
Lca5l |
T |
A |
16: 95,975,009 (GRCm39) |
N305I |
probably damaging |
Het |
Lefty1 |
T |
A |
1: 180,765,332 (GRCm39) |
L300Q |
probably benign |
Het |
Mertk |
A |
G |
2: 128,578,569 (GRCm39) |
Y185C |
probably damaging |
Het |
Mmp14 |
T |
C |
14: 54,673,708 (GRCm39) |
I124T |
possibly damaging |
Het |
Nlrc4 |
T |
C |
17: 74,754,098 (GRCm39) |
E95G |
possibly damaging |
Het |
Npc1 |
A |
G |
18: 12,346,348 (GRCm39) |
F283L |
possibly damaging |
Het |
Or4k38 |
A |
T |
2: 111,166,246 (GRCm39) |
M59K |
probably damaging |
Het |
Or4p19 |
A |
C |
2: 88,242,462 (GRCm39) |
L180W |
probably damaging |
Het |
Pcdha11 |
T |
C |
18: 37,144,278 (GRCm39) |
V123A |
probably damaging |
Het |
Pcdhga2 |
T |
C |
18: 37,802,261 (GRCm39) |
V35A |
probably damaging |
Het |
Pgd |
G |
T |
4: 149,246,135 (GRCm39) |
T94K |
probably benign |
Het |
Pik3c2a |
T |
C |
7: 115,941,487 (GRCm39) |
N1593S |
probably damaging |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Plcb3 |
A |
G |
19: 6,935,452 (GRCm39) |
|
probably null |
Het |
Prkd3 |
C |
T |
17: 79,273,784 (GRCm39) |
D491N |
probably benign |
Het |
Ptprf |
T |
C |
4: 118,088,740 (GRCm39) |
T688A |
probably damaging |
Het |
Pycr2 |
T |
A |
1: 180,734,247 (GRCm39) |
L210M |
probably damaging |
Het |
Rpl36 |
T |
C |
17: 56,921,137 (GRCm39) |
I81T |
probably benign |
Het |
Rraga |
C |
T |
4: 86,494,253 (GRCm39) |
A33V |
probably damaging |
Het |
Slc29a1 |
G |
A |
17: 45,896,688 (GRCm39) |
A429V |
probably damaging |
Het |
Stab1 |
T |
G |
14: 30,882,541 (GRCm39) |
E432A |
probably benign |
Het |
Synj1 |
C |
T |
16: 90,744,978 (GRCm39) |
G1189R |
probably benign |
Het |
Synpo2 |
A |
G |
3: 122,906,053 (GRCm39) |
*1088Q |
probably null |
Het |
Tbc1d21 |
T |
C |
9: 58,270,376 (GRCm39) |
D133G |
probably damaging |
Het |
Tenm2 |
A |
G |
11: 35,915,009 (GRCm39) |
V2176A |
probably damaging |
Het |
Tff1 |
A |
G |
17: 31,381,772 (GRCm39) |
I35T |
probably benign |
Het |
Thnsl1 |
T |
C |
2: 21,217,764 (GRCm39) |
V506A |
possibly damaging |
Het |
Timm10b |
A |
G |
7: 105,290,087 (GRCm39) |
Q50R |
unknown |
Het |
Tjp2 |
A |
T |
19: 24,079,345 (GRCm39) |
N843K |
probably benign |
Het |
Tle1 |
A |
T |
4: 72,057,298 (GRCm39) |
F101I |
probably benign |
Het |
Tmem225 |
T |
C |
9: 40,059,664 (GRCm39) |
F15L |
probably benign |
Het |
Trav12-3 |
T |
C |
14: 53,859,618 (GRCm39) |
L88P |
probably benign |
Het |
Ttc7b |
A |
T |
12: 100,321,293 (GRCm39) |
W613R |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,608,848 (GRCm39) |
M17723L |
probably benign |
Het |
Ttn |
T |
C |
2: 76,775,660 (GRCm39) |
D1840G |
unknown |
Het |
Tubgcp2 |
T |
C |
7: 139,580,949 (GRCm39) |
H668R |
probably benign |
Het |
Ush2a |
C |
A |
1: 188,460,681 (GRCm39) |
N2647K |
possibly damaging |
Het |
Vmn1r14 |
C |
T |
6: 57,210,851 (GRCm39) |
S143F |
probably benign |
Het |
Vmn2r70 |
A |
G |
7: 85,214,262 (GRCm39) |
S297P |
probably damaging |
Het |
Ywhab |
T |
C |
2: 163,855,980 (GRCm39) |
F119L |
probably damaging |
Het |
Zmym2 |
T |
A |
14: 57,187,659 (GRCm39) |
D1108E |
probably benign |
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 |
|
R1523:Fndc1
|
UTSW |
17 |
7,992,041 (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 |
|
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'- CTTACTGTACAAGCCTACAATGAG -3'
(R):5'- CGCATGGGGAGAATGTTAGC -3'
Sequencing Primer
(F):5'- GGGCAACTTACAGAAATCGGTTCTC -3'
(R):5'- AGCGATTTCTGTAAAACCGAAG -3'
|
Posted On |
2019-05-15 |