Incidental Mutation 'R6175:Fndc1'
ID |
487724 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fndc1
|
Ensembl Gene |
ENSMUSG00000071984 |
Gene Name |
fibronectin type III domain containing 1 |
Synonyms |
1110027O12Rik |
MMRRC Submission |
044317-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R6175 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
7957401-8046134 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 7991479 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 739
(H739L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095036
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097425]
|
AlphaFold |
A0A6I8MWX0 |
Predicted Effect |
unknown
Transcript: ENSMUST00000097425
AA Change: H739L
|
SMART Domains |
Protein: ENSMUSP00000095036 Gene: ENSMUSG00000071984 AA Change: H739L
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 |
noncoding transcript
Transcript: ENSMUST00000114579
|
Meta Mutation Damage Score |
0.0620 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
Validation Efficiency |
97% (85/88) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
T |
C |
10: 78,902,448 (GRCm39) |
K623E |
probably damaging |
Het |
A530064D06Rik |
T |
A |
17: 48,460,016 (GRCm39) |
S227C |
possibly damaging |
Het |
Adam30 |
A |
T |
3: 98,070,266 (GRCm39) |
I700F |
probably damaging |
Het |
Adam5 |
A |
T |
8: 25,276,167 (GRCm39) |
M500K |
probably benign |
Het |
Adgb |
A |
T |
10: 10,274,687 (GRCm39) |
S755T |
possibly damaging |
Het |
Adgrv1 |
C |
T |
13: 81,534,124 (GRCm39) |
G5819D |
probably damaging |
Het |
Ank3 |
T |
A |
10: 69,763,557 (GRCm39) |
Y17N |
probably damaging |
Het |
Ano2 |
A |
T |
6: 125,969,918 (GRCm39) |
M745L |
probably benign |
Het |
Arap2 |
A |
G |
5: 62,872,074 (GRCm39) |
|
probably null |
Het |
Atg2a |
A |
T |
19: 6,291,759 (GRCm39) |
|
probably benign |
Het |
AU021092 |
G |
T |
16: 5,038,312 (GRCm39) |
|
probably null |
Het |
Bbs1 |
A |
T |
19: 4,940,749 (GRCm39) |
L578Q |
probably damaging |
Het |
Brd9 |
A |
T |
13: 74,108,433 (GRCm39) |
E589D |
probably damaging |
Het |
Calr4 |
A |
G |
4: 109,101,442 (GRCm39) |
D108G |
probably benign |
Het |
Ccdc82 |
A |
G |
9: 13,272,798 (GRCm39) |
D429G |
probably damaging |
Het |
Cdh22 |
G |
T |
2: 164,988,550 (GRCm39) |
N268K |
probably damaging |
Het |
Ceacam12 |
G |
A |
7: 17,801,312 (GRCm39) |
G97D |
probably damaging |
Het |
Clcn1 |
A |
G |
6: 42,291,096 (GRCm39) |
D990G |
probably damaging |
Het |
Cyp2c40 |
T |
C |
19: 39,801,004 (GRCm39) |
T84A |
probably benign |
Het |
Dnah7a |
G |
A |
1: 53,472,181 (GRCm39) |
P3529S |
probably damaging |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Efna3 |
GAGCAGCAGCAGCAGCAGCAGC |
GAGCAGCAGCAGCAGCAGC |
3: 89,230,105 (GRCm39) |
|
probably benign |
Het |
Ehd2 |
G |
A |
7: 15,697,389 (GRCm39) |
Q4* |
probably null |
Het |
Eml5 |
A |
G |
12: 98,760,715 (GRCm39) |
V1726A |
possibly damaging |
Het |
Esam |
A |
G |
9: 37,439,544 (GRCm39) |
T10A |
probably benign |
Het |
Fbxl6 |
A |
G |
15: 76,422,633 (GRCm39) |
L95P |
probably benign |
Het |
Fbxw18 |
T |
A |
9: 109,505,947 (GRCm39) |
L441F |
probably damaging |
Het |
Fbxw4 |
A |
G |
19: 45,624,766 (GRCm39) |
S73P |
probably benign |
Het |
Foxp1 |
G |
A |
6: 98,943,037 (GRCm39) |
T237I |
probably damaging |
Het |
Greb1 |
A |
T |
12: 16,724,771 (GRCm39) |
I1801N |
probably damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Hoxa13 |
G |
T |
6: 52,236,908 (GRCm39) |
N281K |
probably damaging |
Het |
Hspg2 |
A |
G |
4: 137,296,829 (GRCm39) |
T4328A |
probably damaging |
Het |
Htr2a |
C |
G |
14: 74,882,474 (GRCm39) |
Y153* |
probably null |
Het |
Iglv1 |
C |
A |
16: 18,903,844 (GRCm39) |
A92S |
probably damaging |
Het |
Itih1 |
A |
G |
14: 30,653,152 (GRCm39) |
S759P |
probably damaging |
Het |
Kctd1 |
G |
T |
18: 15,102,688 (GRCm39) |
S831* |
probably null |
Het |
Kif20a |
T |
A |
18: 34,761,199 (GRCm39) |
S265T |
probably damaging |
Het |
Kif22 |
T |
A |
7: 126,630,228 (GRCm39) |
E436V |
possibly damaging |
Het |
Kif27 |
A |
G |
13: 58,459,051 (GRCm39) |
W927R |
probably damaging |
Het |
Lcorl |
G |
A |
5: 45,933,832 (GRCm39) |
P66L |
probably damaging |
Het |
Lct |
A |
G |
1: 128,255,451 (GRCm39) |
L197P |
probably damaging |
Het |
Lefty1 |
T |
C |
1: 180,762,714 (GRCm39) |
S14P |
unknown |
Het |
Lnp1 |
A |
G |
16: 56,737,855 (GRCm39) |
S78P |
possibly damaging |
Het |
Map3k19 |
A |
T |
1: 127,750,569 (GRCm39) |
H927Q |
probably benign |
Het |
Meiosin |
C |
A |
7: 18,834,814 (GRCm39) |
|
probably benign |
Het |
Mta3 |
A |
G |
17: 84,099,222 (GRCm39) |
T430A |
probably benign |
Het |
Muc2 |
G |
T |
7: 141,282,875 (GRCm39) |
C627F |
probably damaging |
Het |
Myh13 |
A |
G |
11: 67,245,588 (GRCm39) |
D1076G |
probably benign |
Het |
Nck2 |
T |
A |
1: 43,572,729 (GRCm39) |
M1K |
probably null |
Het |
Nipal1 |
A |
G |
5: 72,820,898 (GRCm39) |
N131S |
probably damaging |
Het |
Nlrp9c |
T |
C |
7: 26,077,426 (GRCm39) |
|
probably null |
Het |
Nr2f2 |
A |
G |
7: 70,007,946 (GRCm39) |
S179P |
probably damaging |
Het |
Or1j16 |
A |
G |
2: 36,530,063 (GRCm39) |
D4G |
probably benign |
Het |
Or1j21 |
A |
T |
2: 36,683,980 (GRCm39) |
H244L |
probably damaging |
Het |
Or9g19 |
A |
T |
2: 85,600,652 (GRCm39) |
N169I |
probably benign |
Het |
Oxt |
G |
T |
2: 130,418,163 (GRCm39) |
|
probably benign |
Het |
Pank2 |
T |
A |
2: 131,122,181 (GRCm39) |
Y235* |
probably null |
Het |
Pear1 |
A |
G |
3: 87,659,440 (GRCm39) |
L798P |
possibly damaging |
Het |
Pex14 |
T |
C |
4: 149,046,156 (GRCm39) |
H258R |
probably benign |
Het |
Pmpcb |
A |
G |
5: 21,962,031 (GRCm39) |
I487V |
probably benign |
Het |
Ppie |
T |
C |
4: 123,031,362 (GRCm39) |
E44G |
probably benign |
Het |
Ppp1r9a |
A |
T |
6: 4,905,639 (GRCm39) |
R65* |
probably null |
Het |
Ralgapb |
T |
C |
2: 158,288,075 (GRCm39) |
S371P |
probably damaging |
Het |
Ros1 |
T |
C |
10: 51,977,881 (GRCm39) |
H1455R |
probably benign |
Het |
Sacs |
C |
A |
14: 61,450,275 (GRCm39) |
T4107K |
possibly damaging |
Het |
Sec24a |
G |
A |
11: 51,622,718 (GRCm39) |
T386M |
probably damaging |
Het |
Slc10a4 |
A |
T |
5: 73,169,593 (GRCm39) |
Y207F |
possibly damaging |
Het |
Slc30a10 |
T |
C |
1: 185,187,508 (GRCm39) |
L83P |
probably damaging |
Het |
Slc38a9 |
T |
A |
13: 112,840,093 (GRCm39) |
L324* |
probably null |
Het |
Slc7a9 |
A |
T |
7: 35,165,277 (GRCm39) |
Q474L |
probably damaging |
Het |
Smc5 |
C |
A |
19: 23,191,534 (GRCm39) |
V875L |
possibly damaging |
Het |
Snap91 |
T |
C |
9: 86,707,053 (GRCm39) |
R246G |
probably damaging |
Het |
Sned1 |
A |
G |
1: 93,203,196 (GRCm39) |
|
probably null |
Het |
Spink14 |
G |
A |
18: 44,164,938 (GRCm39) |
G85E |
probably benign |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
St13 |
A |
G |
15: 81,283,506 (GRCm39) |
|
probably null |
Het |
Stk10 |
A |
G |
11: 32,553,761 (GRCm39) |
M593V |
possibly damaging |
Het |
Tafa1 |
A |
G |
6: 96,092,721 (GRCm39) |
H35R |
probably benign |
Het |
Tex21 |
C |
A |
12: 76,245,707 (GRCm39) |
A530S |
probably benign |
Het |
Tln2 |
T |
A |
9: 67,131,363 (GRCm39) |
K1394N |
probably damaging |
Het |
Trhr2 |
C |
A |
8: 123,084,118 (GRCm39) |
R294L |
probably damaging |
Het |
Unc79 |
A |
T |
12: 103,149,708 (GRCm39) |
I2408F |
probably damaging |
Het |
Wdr24 |
T |
C |
17: 26,045,552 (GRCm39) |
L429P |
probably damaging |
Het |
Wwp2 |
T |
A |
8: 108,210,039 (GRCm39) |
I139N |
possibly damaging |
Het |
Zfp111 |
G |
A |
7: 23,897,554 (GRCm39) |
R686C |
unknown |
Het |
Zfp268 |
A |
T |
4: 145,350,811 (GRCm39) |
|
probably benign |
Het |
Zyg11a |
A |
G |
4: 108,046,878 (GRCm39) |
V532A |
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 |
|
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'- TTCCTTCCGGTACAAGCTG -3'
(R):5'- TTGACAGAGCTGCAGGAGAC -3'
Sequencing Primer
(F):5'- GTACAAGCTGGCCCCTCTCTG -3'
(R):5'- TGAGGCCACTGCTCAGATC -3'
|
Posted On |
2017-10-10 |