Incidental Mutation 'R5372:Fndc1'
| ID |
428826 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fndc1
|
| Ensembl Gene |
ENSMUSG00000071984 |
| Gene Name |
fibronectin type III domain containing 1 |
| Synonyms |
1110027O12Rik |
| MMRRC Submission |
042948-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R5372 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
7957401-8046134 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 7984042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 1295
(V1295L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095036
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097425]
|
| AlphaFold |
A0A6I8MWX0 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000097424
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000097425
AA Change: V1295L
|
| SMART Domains |
Protein: ENSMUSP00000095036
Gene: ENSMUSG00000071984
AA Change: V1295L
| 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 |
0.0869 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
96% (89/93) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
A |
3: 121,848,988 (GRCm39) |
D108E |
probably damaging |
Het |
| Abhd12b |
A |
G |
12: 70,227,800 (GRCm39) |
D194G |
probably damaging |
Het |
| Adck5 |
A |
G |
15: 76,478,707 (GRCm39) |
|
probably benign |
Het |
| Adgrb3 |
C |
T |
1: 25,167,940 (GRCm39) |
V792I |
probably benign |
Het |
| Anxa8 |
G |
A |
14: 33,815,868 (GRCm39) |
V174M |
probably damaging |
Het |
| Apol9b |
A |
T |
15: 77,619,920 (GRCm39) |
R239W |
probably benign |
Het |
| Arhgap26 |
A |
G |
18: 38,775,509 (GRCm39) |
|
noncoding transcript |
Het |
| Atrnl1 |
A |
G |
19: 57,743,968 (GRCm39) |
Y1190C |
probably benign |
Het |
| Brinp3 |
T |
G |
1: 146,707,464 (GRCm39) |
L376R |
probably damaging |
Het |
| Btbd2 |
A |
T |
10: 80,484,475 (GRCm39) |
M132K |
probably damaging |
Het |
| C130073F10Rik |
A |
T |
4: 101,747,684 (GRCm39) |
I115K |
probably damaging |
Het |
| C1ra |
T |
A |
6: 124,498,584 (GRCm39) |
Y426N |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,623,971 (GRCm39) |
V203E |
probably damaging |
Het |
| Catsperg1 |
T |
A |
7: 28,910,137 (GRCm39) |
D68V |
probably benign |
Het |
| Ccdc158 |
A |
C |
5: 92,780,419 (GRCm39) |
S885A |
possibly damaging |
Het |
| Cdc42bpa |
T |
C |
1: 179,892,544 (GRCm39) |
V236A |
probably damaging |
Het |
| Cdca7 |
A |
T |
2: 72,312,793 (GRCm39) |
E176D |
probably damaging |
Het |
| Cdk17 |
A |
G |
10: 93,061,901 (GRCm39) |
D211G |
probably benign |
Het |
| Clca3a2 |
A |
C |
3: 144,503,286 (GRCm39) |
M888R |
probably benign |
Het |
| Clcn7 |
T |
A |
17: 25,376,153 (GRCm39) |
M568K |
possibly damaging |
Het |
| Clip1 |
G |
T |
5: 123,768,303 (GRCm39) |
N811K |
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,585,648 (GRCm39) |
Y1243F |
probably damaging |
Het |
| Dctn1 |
T |
A |
6: 83,167,192 (GRCm39) |
D315E |
probably damaging |
Het |
| Dgcr2 |
T |
C |
16: 17,690,508 (GRCm39) |
T41A |
probably benign |
Het |
| Dync2h1 |
G |
A |
9: 7,176,962 (GRCm39) |
|
probably benign |
Het |
| Ep300 |
A |
G |
15: 81,521,031 (GRCm39) |
I1264V |
unknown |
Het |
| Fam167b |
A |
T |
4: 129,472,092 (GRCm39) |
L26Q |
possibly damaging |
Het |
| Fam178b |
T |
A |
1: 36,603,929 (GRCm39) |
I457F |
possibly damaging |
Het |
| Fgd4 |
A |
T |
16: 16,302,155 (GRCm39) |
N133K |
probably benign |
Het |
| Gad2 |
A |
T |
2: 22,580,255 (GRCm39) |
D552V |
possibly damaging |
Het |
| Hars2 |
T |
C |
18: 36,923,534 (GRCm39) |
Y361H |
possibly damaging |
Het |
| Heca |
T |
A |
10: 17,790,887 (GRCm39) |
S390C |
probably damaging |
Het |
| Hephl1 |
G |
T |
9: 15,009,195 (GRCm39) |
Y132* |
probably null |
Het |
| Hormad1 |
T |
A |
3: 95,483,735 (GRCm39) |
D182E |
probably damaging |
Het |
| Ifna15 |
G |
A |
4: 88,476,338 (GRCm39) |
P49S |
probably damaging |
Het |
| Khsrp |
T |
C |
17: 57,331,292 (GRCm39) |
T429A |
possibly damaging |
Het |
| Magi2 |
A |
G |
5: 20,907,108 (GRCm39) |
Q1094R |
possibly damaging |
Het |
| Map3k11 |
T |
A |
19: 5,740,990 (GRCm39) |
I239K |
probably damaging |
Het |
| Mtus2 |
A |
G |
5: 148,250,222 (GRCm39) |
T1319A |
probably damaging |
Het |
| Nup54 |
A |
G |
5: 92,565,716 (GRCm39) |
I406T |
probably damaging |
Het |
| Nxpe2 |
T |
C |
9: 48,250,819 (GRCm39) |
T43A |
possibly damaging |
Het |
| Nynrin |
A |
G |
14: 56,105,948 (GRCm39) |
E889G |
probably benign |
Het |
| Opa1 |
A |
C |
16: 29,404,937 (GRCm39) |
H45P |
probably benign |
Het |
| Or14c44 |
T |
A |
7: 86,062,176 (GRCm39) |
I202N |
possibly damaging |
Het |
| Or4f60 |
A |
G |
2: 111,902,454 (GRCm39) |
I158T |
probably benign |
Het |
| Or56b2j |
A |
G |
7: 104,353,002 (GRCm39) |
D76G |
probably benign |
Het |
| Or8a1b |
T |
C |
9: 37,623,234 (GRCm39) |
M114V |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Papola |
A |
G |
12: 105,793,309 (GRCm39) |
K543R |
probably benign |
Het |
| Plcxd3 |
G |
A |
15: 4,604,270 (GRCm39) |
V293I |
probably benign |
Het |
| Polr2g |
T |
C |
19: 8,774,667 (GRCm39) |
Y72C |
probably damaging |
Het |
| Ppp1r21 |
A |
G |
17: 88,858,103 (GRCm39) |
K205E |
probably benign |
Het |
| Ptpre |
A |
G |
7: 135,255,669 (GRCm39) |
K53E |
possibly damaging |
Het |
| Rasal3 |
T |
C |
17: 32,610,318 (GRCm39) |
K990E |
probably benign |
Het |
| Rgs3 |
A |
T |
4: 62,570,934 (GRCm39) |
|
probably benign |
Het |
| Rhd |
A |
G |
4: 134,611,943 (GRCm39) |
T254A |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Scube3 |
G |
T |
17: 28,371,456 (GRCm39) |
C57F |
probably damaging |
Het |
| Sh2d5 |
A |
G |
4: 137,982,010 (GRCm39) |
D57G |
possibly damaging |
Het |
| Slc12a6 |
T |
A |
2: 112,177,705 (GRCm39) |
L608* |
probably null |
Het |
| Slk |
A |
T |
19: 47,613,832 (GRCm39) |
N896I |
probably damaging |
Het |
| Smc6 |
A |
G |
12: 11,332,431 (GRCm39) |
D211G |
probably damaging |
Het |
| Sox6 |
A |
T |
7: 115,149,386 (GRCm39) |
Y371* |
probably null |
Het |
| Srcap |
G |
A |
7: 127,156,785 (GRCm39) |
|
probably null |
Het |
| Stard5 |
T |
A |
7: 83,282,428 (GRCm39) |
D80E |
probably damaging |
Het |
| Supv3l1 |
C |
T |
10: 62,268,136 (GRCm39) |
V570M |
probably damaging |
Het |
| Syt7 |
G |
T |
19: 10,403,985 (GRCm39) |
V180L |
probably damaging |
Het |
| Tacc2 |
T |
A |
7: 130,224,990 (GRCm39) |
H558Q |
probably benign |
Het |
| Tas2r120 |
T |
A |
6: 132,634,446 (GRCm39) |
M176K |
possibly damaging |
Het |
| Tmem135 |
A |
T |
7: 88,814,382 (GRCm39) |
|
probably null |
Het |
| Trim35 |
T |
C |
14: 66,534,715 (GRCm39) |
V66A |
possibly damaging |
Het |
| Tspan12 |
A |
G |
6: 21,772,698 (GRCm39) |
S284P |
probably benign |
Het |
| Ttll3 |
A |
T |
6: 113,378,382 (GRCm39) |
K257* |
probably null |
Het |
| Uggt1 |
C |
A |
1: 36,283,141 (GRCm39) |
|
probably benign |
Het |
| Vmn2r7 |
T |
A |
3: 64,623,745 (GRCm39) |
I283F |
probably damaging |
Het |
| Wdfy2 |
T |
G |
14: 63,192,334 (GRCm39) |
H363Q |
probably damaging |
Het |
| Wdr4 |
T |
A |
17: 31,729,554 (GRCm39) |
K95N |
probably damaging |
Het |
| Zfp141 |
T |
C |
7: 42,126,620 (GRCm39) |
N91S |
possibly damaging |
Het |
| Zfp383 |
C |
T |
7: 29,614,695 (GRCm39) |
R317* |
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 |
|
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 |
|
|
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'- GCCCATTATAAGGTTGCCAGC -3'
(R):5'- TATGGTGAGTCCTGATGGCC -3'
Sequencing Primer
(F):5'- ATAAGGTTGCCAGCTTCATCCTG -3'
(R):5'- AGTCCTGATGGCCTCCCC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation