Incidental Mutation 'R2007:Fndc1'
| ID |
222562 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fndc1
|
| Ensembl Gene |
ENSMUSG00000071984 |
| Gene Name |
fibronectin type III domain containing 1 |
| Synonyms |
1110027O12Rik |
| MMRRC Submission |
040016-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R2007 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
7957401-8046134 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 7997580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097425]
[ENSMUST00000167580]
|
| AlphaFold |
A0A6I8MWX0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000097425
AA Change: T256I
|
| SMART Domains |
Protein: ENSMUSP00000095036
Gene: ENSMUSG00000071984
AA Change: T256I
| 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 |
|
| Meta Mutation Damage Score |
0.2985 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
96% (66/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,519,855 (GRCm39) |
N1387K |
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,141,987 (GRCm39) |
F8L |
probably benign |
Het |
| Abcg5 |
G |
T |
17: 84,977,348 (GRCm39) |
L270M |
probably damaging |
Het |
| Acad10 |
A |
G |
5: 121,772,814 (GRCm39) |
L489S |
probably damaging |
Het |
| Acsf2 |
G |
A |
11: 94,462,466 (GRCm39) |
T183I |
possibly damaging |
Het |
| Adamts7 |
A |
T |
9: 90,059,909 (GRCm39) |
E282V |
probably damaging |
Het |
| Adcy4 |
C |
T |
14: 56,015,770 (GRCm39) |
G440R |
possibly damaging |
Het |
| AI429214 |
G |
A |
8: 37,460,923 (GRCm39) |
V24I |
probably benign |
Het |
| Angptl3 |
T |
C |
4: 98,925,634 (GRCm39) |
I320T |
probably damaging |
Het |
| Apoa5 |
A |
T |
9: 46,181,665 (GRCm39) |
Q247L |
possibly damaging |
Het |
| Astn1 |
T |
G |
1: 158,436,875 (GRCm39) |
V811G |
probably damaging |
Het |
| Bard1 |
C |
T |
1: 71,070,562 (GRCm39) |
V641I |
probably benign |
Het |
| Calb2 |
T |
C |
8: 110,894,702 (GRCm39) |
E23G |
probably benign |
Het |
| Cdkl4 |
A |
G |
17: 80,863,730 (GRCm39) |
|
probably benign |
Het |
| Cep85l |
A |
G |
10: 53,154,171 (GRCm39) |
|
probably benign |
Het |
| Cfap91 |
T |
C |
16: 38,118,616 (GRCm39) |
I728V |
probably benign |
Het |
| Chd1 |
G |
T |
17: 15,951,268 (GRCm39) |
G281V |
probably damaging |
Het |
| Col17a1 |
C |
T |
19: 47,656,141 (GRCm39) |
G586E |
probably damaging |
Het |
| Cpne3 |
T |
A |
4: 19,553,833 (GRCm39) |
D66V |
probably damaging |
Het |
| Csde1 |
A |
T |
3: 102,952,107 (GRCm39) |
I204L |
probably damaging |
Het |
| Dchs1 |
A |
T |
7: 105,404,532 (GRCm39) |
V2670E |
probably damaging |
Het |
| Ddx10 |
A |
G |
9: 53,124,578 (GRCm39) |
V428A |
probably benign |
Het |
| Dgkh |
T |
A |
14: 78,840,489 (GRCm39) |
D530V |
probably benign |
Het |
| Dis3l |
A |
T |
9: 64,215,558 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
G |
1: 34,265,093 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
C |
T |
11: 29,798,814 (GRCm39) |
|
probably null |
Het |
| En1 |
A |
T |
1: 120,531,133 (GRCm39) |
E124D |
probably benign |
Het |
| Exo1 |
G |
A |
1: 175,736,096 (GRCm39) |
E827K |
probably damaging |
Het |
| Fktn |
T |
C |
4: 53,735,099 (GRCm39) |
F246L |
possibly damaging |
Het |
| Foxp2 |
G |
A |
6: 15,396,818 (GRCm39) |
C381Y |
probably damaging |
Het |
| Galnt6 |
A |
T |
15: 100,595,047 (GRCm39) |
Y485N |
probably damaging |
Het |
| Gemin4 |
G |
A |
11: 76,103,444 (GRCm39) |
A439V |
possibly damaging |
Het |
| Gpatch8 |
A |
G |
11: 102,391,657 (GRCm39) |
I155T |
unknown |
Het |
| Hmcn2 |
A |
G |
2: 31,328,267 (GRCm39) |
D4316G |
possibly damaging |
Het |
| Hnrnpr |
T |
A |
4: 136,046,824 (GRCm39) |
|
probably benign |
Het |
| Hpx |
G |
A |
7: 105,244,781 (GRCm39) |
R135C |
probably damaging |
Het |
| Khdrbs2 |
T |
G |
1: 32,559,629 (GRCm39) |
E151A |
probably benign |
Het |
| Krt6b |
A |
T |
15: 101,586,562 (GRCm39) |
L309H |
probably damaging |
Het |
| Lce1c |
G |
T |
3: 92,587,765 (GRCm39) |
C64F |
unknown |
Het |
| Marchf6 |
C |
T |
15: 31,462,087 (GRCm39) |
|
probably null |
Het |
| Myt1 |
C |
A |
2: 181,437,552 (GRCm39) |
R88S |
probably benign |
Het |
| Nemp1 |
A |
G |
10: 127,529,446 (GRCm39) |
S194G |
probably benign |
Het |
| Nphp4 |
A |
G |
4: 152,639,111 (GRCm39) |
K914R |
probably damaging |
Het |
| Or3a1 |
T |
A |
11: 74,225,212 (GRCm39) |
T282S |
possibly damaging |
Het |
| Osbp |
T |
C |
19: 11,951,265 (GRCm39) |
M270T |
probably benign |
Het |
| Parg |
T |
C |
14: 31,932,531 (GRCm39) |
M457T |
possibly damaging |
Het |
| Phf20 |
T |
C |
2: 156,129,874 (GRCm39) |
M482T |
probably benign |
Het |
| Pik3c2a |
G |
A |
7: 115,941,472 (GRCm39) |
T1598I |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,798,759 (GRCm39) |
M2689T |
probably damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,944,216 (GRCm39) |
V1091E |
probably damaging |
Het |
| Ptcd2 |
A |
T |
13: 99,456,744 (GRCm39) |
L360Q |
probably damaging |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Serpinc1 |
A |
T |
1: 160,821,110 (GRCm39) |
T65S |
probably benign |
Het |
| Sipa1l2 |
G |
A |
8: 126,166,176 (GRCm39) |
T1486I |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,068,968 (GRCm39) |
L949P |
probably damaging |
Het |
| Ssc5d |
T |
G |
7: 4,931,628 (GRCm39) |
C278W |
probably damaging |
Het |
| Tbc1d14 |
T |
G |
5: 36,728,718 (GRCm39) |
H216P |
possibly damaging |
Het |
| Tmem183a |
A |
G |
1: 134,277,861 (GRCm39) |
F301S |
probably damaging |
Het |
| Tmem233 |
A |
C |
5: 116,189,496 (GRCm39) |
N94K |
possibly damaging |
Het |
| Tmprss13 |
A |
G |
9: 45,243,843 (GRCm39) |
D193G |
probably damaging |
Het |
| Tprkb |
T |
C |
6: 85,910,030 (GRCm39) |
|
probably benign |
Het |
| Tram1l1 |
A |
G |
3: 124,115,488 (GRCm39) |
H216R |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,564,484 (GRCm39) |
V28551A |
probably damaging |
Het |
| Ubtfl1 |
A |
G |
9: 18,320,547 (GRCm39) |
N25S |
possibly damaging |
Het |
| Unc80 |
C |
A |
1: 66,542,935 (GRCm39) |
N396K |
probably damaging |
Het |
| Vmn1r171 |
T |
C |
7: 23,332,012 (GRCm39) |
L79P |
probably damaging |
Het |
| Vmn2r115 |
G |
T |
17: 23,566,927 (GRCm39) |
V480F |
possibly damaging |
Het |
| Xpo4 |
T |
C |
14: 57,824,101 (GRCm39) |
I995V |
probably null |
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 |
|
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'- ACTATGCATGCCTTTAGTCTGC -3'
(R):5'- TAGACATTGTATGAGGGGCCTG -3'
Sequencing Primer
(F):5'- CTGCTTTTCAGTCAGAGTCACCAAAG -3'
(R):5'- AGGTCTTGTGTGTCACCAAC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation