Incidental Mutation 'IGL02988:Fndc1'
| ID |
453514 |
| 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 # |
IGL02988 (G1)
|
| Quality Score |
89 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
7957401-8046134 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 7972355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1526
(T1526A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095036
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097425]
|
| AlphaFold |
A0A6I8MWX0 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000097424
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097425
AA Change: T1526A
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000095036
Gene: ENSMUSG00000071984
AA Change: T1526A
| 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 |
|
| Meta Mutation Damage Score |
0.4003 |
| Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
99% (71/72) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
| Aadacl4fm5 |
T |
A |
4: 144,513,100 (GRCm39) |
|
probably benign |
Het |
| Adgrd1 |
G |
A |
5: 129,221,074 (GRCm39) |
A488T |
probably benign |
Het |
| Ano3 |
T |
C |
2: 110,605,355 (GRCm39) |
S284G |
probably damaging |
Het |
| Aox1 |
G |
T |
1: 58,376,509 (GRCm39) |
V897L |
probably benign |
Het |
| Arl6 |
T |
A |
16: 59,434,209 (GRCm39) |
|
probably null |
Het |
| Blnk |
G |
A |
19: 40,917,660 (GRCm39) |
T441M |
probably damaging |
Het |
| Casp8ap2 |
C |
T |
4: 32,644,590 (GRCm39) |
T1221I |
probably benign |
Het |
| Cbll1 |
A |
T |
12: 31,542,171 (GRCm39) |
F63L |
possibly damaging |
Het |
| Cdk14 |
A |
G |
5: 5,086,484 (GRCm39) |
Y279H |
probably damaging |
Het |
| Cflar |
A |
T |
1: 58,780,190 (GRCm39) |
I265F |
possibly damaging |
Het |
| Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
| Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
| Cyp3a13 |
A |
T |
5: 137,897,272 (GRCm39) |
Y347* |
probably null |
Het |
| Defa27 |
T |
C |
8: 21,805,583 (GRCm39) |
S8P |
probably damaging |
Het |
| Depdc5 |
A |
C |
5: 33,113,511 (GRCm39) |
|
probably null |
Het |
| Dlg5 |
A |
G |
14: 24,216,323 (GRCm39) |
F573S |
probably damaging |
Het |
| Fam20c |
A |
T |
5: 138,741,749 (GRCm39) |
E120V |
probably benign |
Het |
| Fam53a |
T |
C |
5: 33,764,819 (GRCm39) |
K296E |
probably damaging |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Gm14325 |
A |
C |
2: 177,476,042 (GRCm39) |
|
probably null |
Het |
| Gm7582 |
G |
A |
1: 85,019,588 (GRCm39) |
|
noncoding transcript |
Het |
| Golga7b |
A |
C |
19: 42,255,239 (GRCm39) |
Y63S |
probably damaging |
Het |
| Hexb |
A |
G |
13: 97,334,729 (GRCm39) |
L14P |
unknown |
Het |
| Hsd17b3 |
A |
C |
13: 64,236,914 (GRCm39) |
L10R |
probably damaging |
Het |
| Il6st |
T |
C |
13: 112,635,420 (GRCm39) |
F611L |
probably damaging |
Het |
| Ints13 |
T |
A |
6: 146,457,646 (GRCm39) |
T411S |
possibly damaging |
Het |
| Kif18b |
C |
A |
11: 102,799,146 (GRCm39) |
C685F |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,509,729 (GRCm39) |
N19S |
probably damaging |
Het |
| Lmbr1 |
G |
T |
5: 29,497,221 (GRCm39) |
|
probably null |
Het |
| Minar1 |
A |
G |
9: 89,484,792 (GRCm39) |
S202P |
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,216,397 (GRCm39) |
R62Q |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,458,183 (GRCm39) |
|
probably benign |
Het |
| Myo5a |
A |
T |
9: 75,037,423 (GRCm39) |
|
probably benign |
Het |
| Nobox |
G |
A |
6: 43,282,095 (GRCm39) |
S326L |
possibly damaging |
Het |
| Nsl1 |
C |
A |
1: 190,795,300 (GRCm39) |
S22* |
probably null |
Het |
| Or5b3 |
A |
C |
19: 13,388,826 (GRCm39) |
K298Q |
possibly damaging |
Het |
| Or5j3 |
T |
C |
2: 86,128,823 (GRCm39) |
I221T |
probably damaging |
Het |
| Pdia3 |
T |
A |
2: 121,260,037 (GRCm39) |
L192Q |
probably damaging |
Het |
| Pkd2 |
A |
T |
5: 104,651,471 (GRCm39) |
R940* |
probably null |
Het |
| Plcd3 |
T |
A |
11: 102,967,568 (GRCm39) |
Q458L |
probably benign |
Het |
| Polm |
T |
A |
11: 5,786,343 (GRCm39) |
T75S |
probably benign |
Het |
| Pon3 |
T |
A |
6: 5,232,330 (GRCm39) |
D230V |
possibly damaging |
Het |
| Pxdn |
A |
T |
12: 30,053,113 (GRCm39) |
K917* |
probably null |
Het |
| Rad54l2 |
A |
G |
9: 106,577,784 (GRCm39) |
S1046P |
probably benign |
Het |
| Rb1cc1 |
T |
C |
1: 6,318,035 (GRCm39) |
|
probably null |
Het |
| Rnf215 |
A |
G |
11: 4,086,785 (GRCm39) |
E194G |
probably damaging |
Het |
| Rorb |
A |
T |
19: 18,915,336 (GRCm39) |
F441I |
probably damaging |
Het |
| Sel1l2 |
C |
A |
2: 140,090,508 (GRCm39) |
G378V |
probably damaging |
Het |
| Sema6a |
G |
T |
18: 47,431,281 (GRCm39) |
A139D |
probably damaging |
Het |
| Serpinb3d |
A |
T |
1: 107,006,266 (GRCm39) |
M274K |
probably benign |
Het |
| Siglec15 |
A |
C |
18: 78,092,462 (GRCm39) |
L32R |
probably damaging |
Het |
| Siglecg |
A |
T |
7: 43,067,476 (GRCm39) |
D681V |
probably damaging |
Het |
| Slc6a13 |
G |
T |
6: 121,303,066 (GRCm39) |
|
probably benign |
Het |
| Slc9b2 |
G |
T |
3: 135,024,179 (GRCm39) |
A77S |
probably benign |
Het |
| Slit3 |
T |
A |
11: 35,598,890 (GRCm39) |
V1498D |
probably damaging |
Het |
| Snorc |
A |
G |
1: 87,402,926 (GRCm39) |
|
probably null |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Stxbp2 |
T |
C |
8: 3,683,267 (GRCm39) |
|
probably benign |
Het |
| Tbc1d9b |
T |
C |
11: 50,042,773 (GRCm39) |
S482P |
possibly damaging |
Het |
| Tec |
A |
G |
5: 72,926,090 (GRCm39) |
S321P |
possibly damaging |
Het |
| Tenm3 |
A |
G |
8: 48,688,381 (GRCm39) |
M2402T |
probably damaging |
Het |
| Thrap3 |
G |
A |
4: 126,059,335 (GRCm39) |
|
probably null |
Het |
| Tm4sf1 |
A |
T |
3: 57,200,537 (GRCm39) |
|
probably null |
Het |
| Tmcc1 |
T |
C |
6: 116,019,889 (GRCm39) |
E306G |
probably damaging |
Het |
| Traf3ip3 |
A |
T |
1: 192,877,182 (GRCm39) |
|
probably null |
Het |
| Utf1 |
C |
T |
7: 139,523,875 (GRCm39) |
P30L |
possibly damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,077,847 (GRCm39) |
C880S |
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 |
|
|
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 |
|
|
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'- CTGGCTGTTTATTTGCAGAAAGAC -3'
(R):5'- CTGATGCGCTGGACCATTTC -3'
Sequencing Primer
(F):5'- AGGACTCTGGCTTTCATCCAATG -3'
(R):5'- TCCAAGTGGAAAGCCTGGATG -3'
|
| Posted On |
2017-02-08 |
Incidental Mutation