Incidental Mutation 'R7359:Fndc1'
ID |
590966 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fndc1
|
Ensembl Gene |
ENSMUSG00000071984 |
Gene Name |
fibronectin type III domain containing 1 |
Synonyms |
1110027O12Rik |
MMRRC Submission |
045445-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R7359 (G1)
|
Quality Score |
151.008 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
7957401-8046134 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 8032318 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126701
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167580]
[ENSMUST00000169126]
|
AlphaFold |
A0A6I8MWX0 |
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 null
Transcript: ENSMUST00000169126
|
SMART Domains |
Protein: ENSMUSP00000126701 Gene: ENSMUSG00000071984
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: 100.0%
- 10x: 99.7%
- 20x: 98.8%
|
Validation Efficiency |
99% (87/88) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
C |
12: 71,236,348 (GRCm39) |
V1233A |
possibly damaging |
Het |
Abcc9 |
G |
A |
6: 142,617,408 (GRCm39) |
T552I |
probably damaging |
Het |
Adgrf4 |
T |
C |
17: 42,978,003 (GRCm39) |
I447V |
possibly damaging |
Het |
Akirin2 |
T |
A |
4: 34,565,944 (GRCm39) |
D178E |
probably damaging |
Het |
Arhgap12 |
T |
C |
18: 6,065,709 (GRCm39) |
E359G |
possibly damaging |
Het |
Arhgef5 |
A |
C |
6: 43,257,216 (GRCm39) |
T1256P |
probably damaging |
Het |
Avpr1a |
A |
C |
10: 122,285,283 (GRCm39) |
I192L |
possibly damaging |
Het |
B4galnt4 |
A |
G |
7: 140,651,197 (GRCm39) |
H926R |
probably damaging |
Het |
Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Het |
Ccdc68 |
C |
T |
18: 70,089,123 (GRCm39) |
A222V |
probably benign |
Het |
Cdc23 |
T |
C |
18: 34,774,394 (GRCm39) |
Y295C |
probably benign |
Het |
Ceacam10 |
T |
C |
7: 24,480,432 (GRCm39) |
Y188H |
unknown |
Het |
Cfap57 |
T |
A |
4: 118,456,162 (GRCm39) |
T511S |
probably benign |
Het |
Cftr |
T |
C |
6: 18,221,623 (GRCm39) |
V245A |
probably benign |
Het |
Cit |
A |
G |
5: 116,064,633 (GRCm39) |
D505G |
probably damaging |
Het |
Cmah |
T |
G |
13: 24,652,539 (GRCm39) |
N556K |
probably benign |
Het |
Cspg4b |
T |
C |
13: 113,478,964 (GRCm39) |
S1503P |
|
Het |
D430041D05Rik |
C |
A |
2: 104,044,482 (GRCm39) |
D839Y |
probably damaging |
Het |
Dek |
T |
C |
13: 47,259,065 (GRCm39) |
D47G |
unknown |
Het |
Des |
C |
T |
1: 75,337,596 (GRCm39) |
R179C |
probably damaging |
Het |
Desi2 |
A |
G |
1: 178,015,509 (GRCm39) |
N10D |
probably benign |
Het |
Dlg5 |
T |
C |
14: 24,214,615 (GRCm39) |
N679S |
probably damaging |
Het |
Dnajc24 |
T |
C |
2: 105,832,293 (GRCm39) |
Y30C |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,687,065 (GRCm39) |
H34L |
probably benign |
Het |
Dock5 |
A |
G |
14: 68,003,337 (GRCm39) |
V1586A |
probably benign |
Het |
Dpy19l4 |
A |
G |
4: 11,273,125 (GRCm39) |
V576A |
probably benign |
Het |
Dusp6 |
A |
G |
10: 99,099,927 (GRCm39) |
E125G |
probably benign |
Het |
Dync1h1 |
T |
C |
12: 110,591,036 (GRCm39) |
Y1035H |
probably benign |
Het |
Dysf |
G |
A |
6: 84,172,306 (GRCm39) |
|
probably null |
Het |
En1 |
A |
G |
1: 120,534,817 (GRCm39) |
K369E |
unknown |
Het |
F2r |
A |
G |
13: 95,741,194 (GRCm39) |
Y114H |
probably damaging |
Het |
Fam184a |
T |
C |
10: 53,575,318 (GRCm39) |
Y97C |
probably damaging |
Het |
Fggy |
T |
C |
4: 95,657,717 (GRCm39) |
V286A |
probably benign |
Het |
Flot2 |
T |
C |
11: 77,949,383 (GRCm39) |
I322T |
probably benign |
Het |
Frs3 |
A |
G |
17: 48,010,450 (GRCm39) |
D28G |
probably damaging |
Het |
Gimap3 |
C |
T |
6: 48,742,280 (GRCm39) |
D217N |
probably benign |
Het |
Gm128 |
A |
G |
3: 95,147,934 (GRCm39) |
V120A |
probably benign |
Het |
Gm17190 |
T |
C |
13: 96,218,970 (GRCm39) |
V102A |
probably damaging |
Het |
Gm17268 |
A |
G |
11: 81,919,057 (GRCm39) |
V20A |
unknown |
Het |
Grsf1 |
A |
T |
5: 88,813,423 (GRCm39) |
|
probably null |
Het |
Hmcn2 |
A |
T |
2: 31,278,395 (GRCm39) |
Y1699F |
probably benign |
Het |
Hnmt |
T |
A |
2: 23,938,731 (GRCm39) |
M36L |
probably benign |
Het |
Hoxd1 |
C |
A |
2: 74,594,447 (GRCm39) |
T234K |
probably damaging |
Het |
Hydin |
C |
G |
8: 111,232,733 (GRCm39) |
S1679R |
probably damaging |
Het |
Jag1 |
T |
C |
2: 136,926,226 (GRCm39) |
R1059G |
probably benign |
Het |
Kbtbd11 |
T |
C |
8: 15,078,858 (GRCm39) |
W486R |
probably damaging |
Het |
Kcnh6 |
A |
G |
11: 105,909,789 (GRCm39) |
D438G |
possibly damaging |
Het |
Lgals4 |
T |
G |
7: 28,540,724 (GRCm39) |
F276V |
probably benign |
Het |
Lrp6 |
G |
T |
6: 134,427,923 (GRCm39) |
Y1556* |
probably null |
Het |
Mpdz |
G |
A |
4: 81,274,632 (GRCm39) |
L855F |
probably benign |
Het |
Muc16 |
A |
T |
9: 18,554,316 (GRCm39) |
D3992E |
unknown |
Het |
Npc1 |
T |
C |
18: 12,328,237 (GRCm39) |
N1024S |
probably benign |
Het |
Nsfl1c |
A |
G |
2: 151,336,279 (GRCm39) |
T18A |
probably benign |
Het |
Or12e8 |
T |
A |
2: 87,188,555 (GRCm39) |
L256I |
possibly damaging |
Het |
Or12k5 |
A |
T |
2: 36,895,449 (GRCm39) |
M59K |
probably damaging |
Het |
Or2g7 |
G |
A |
17: 38,378,506 (GRCm39) |
W148* |
probably null |
Het |
Or8g31-ps1 |
T |
C |
9: 39,276,775 (GRCm39) |
*307R |
probably null |
Het |
Pcdh15 |
A |
T |
10: 74,420,048 (GRCm39) |
K1235N |
probably damaging |
Het |
Pcif1 |
A |
G |
2: 164,726,251 (GRCm39) |
K51E |
probably damaging |
Het |
Pde1b |
G |
A |
15: 103,429,752 (GRCm39) |
D82N |
probably damaging |
Het |
Phf23 |
T |
A |
11: 69,889,467 (GRCm39) |
V167E |
possibly damaging |
Het |
Pik3c2g |
T |
C |
6: 139,913,620 (GRCm39) |
V1006A |
unknown |
Het |
Pira12 |
T |
A |
7: 3,901,103 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
G |
T |
15: 44,452,882 (GRCm39) |
V3936F |
probably damaging |
Het |
Pnpla1 |
T |
C |
17: 29,100,159 (GRCm39) |
V342A |
probably benign |
Het |
Ppip5k1 |
T |
C |
2: 121,171,329 (GRCm39) |
D620G |
possibly damaging |
Het |
Ppl |
A |
G |
16: 4,907,205 (GRCm39) |
L1030P |
possibly damaging |
Het |
Prelid1 |
A |
T |
13: 55,469,088 (GRCm39) |
|
probably benign |
Het |
Racgap1 |
C |
T |
15: 99,529,081 (GRCm39) |
S264N |
probably benign |
Het |
Rdh13 |
T |
C |
7: 4,430,696 (GRCm39) |
D289G |
probably benign |
Het |
Rtp3 |
T |
C |
9: 110,815,364 (GRCm39) |
I334V |
probably benign |
Het |
Setd2 |
A |
T |
9: 110,392,012 (GRCm39) |
D200V |
|
Het |
Simc1 |
A |
G |
13: 54,651,731 (GRCm39) |
S15G |
unknown |
Het |
Sirpb1c |
A |
T |
3: 15,887,389 (GRCm39) |
M150K |
probably benign |
Het |
Smoc1 |
T |
A |
12: 81,197,475 (GRCm39) |
D202E |
probably damaging |
Het |
Spata31d1b |
A |
G |
13: 59,860,304 (GRCm39) |
Y59C |
probably damaging |
Het |
Stard9 |
A |
G |
2: 120,528,761 (GRCm39) |
T1673A |
probably damaging |
Het |
Tbc1d31 |
T |
A |
15: 57,779,504 (GRCm39) |
H72Q |
probably benign |
Het |
Tgfbrap1 |
C |
A |
1: 43,114,693 (GRCm39) |
V136L |
probably damaging |
Het |
Top2b |
A |
G |
14: 16,407,376 (GRCm38) |
N720S |
probably null |
Het |
Vmn1r11 |
T |
C |
6: 57,115,184 (GRCm39) |
S283P |
probably damaging |
Het |
Vmn1r19 |
A |
G |
6: 57,382,080 (GRCm39) |
H211R |
probably damaging |
Het |
Vmn2r44 |
A |
T |
7: 8,370,538 (GRCm39) |
M836K |
probably benign |
Het |
Vmn2r61 |
A |
C |
7: 41,915,407 (GRCm39) |
H118P |
probably benign |
Het |
Vps33a |
A |
G |
5: 123,696,696 (GRCm39) |
I319T |
probably benign |
Het |
Vwf |
T |
A |
6: 125,543,220 (GRCm39) |
S151T |
|
Het |
Zfp423 |
T |
C |
8: 88,508,871 (GRCm39) |
N491S |
possibly damaging |
Het |
Zfp626 |
T |
C |
7: 27,507,660 (GRCm39) |
F23S |
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 |
|
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 |
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'- CAGTATAAAAGTGTCAAACCTGTCC -3'
(R):5'- GAATTAGAGAATGCTGCACTTGTG -3'
Sequencing Primer
(F):5'- TCCAGAGGGGAACATCATC -3'
(R):5'- GAGAATGCTGCACTTGTGATACATAC -3'
|
Posted On |
2019-10-25 |