Incidental Mutation 'IGL03096:Fndc3a'
| ID |
418561 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fndc3a
|
| Ensembl Gene |
ENSMUSG00000033487 |
| Gene Name |
fibronectin type III domain containing 3A |
| Synonyms |
sys, F730017H24Rik, Fndc3, D14Ertd453e, 1700094E19Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.509)
|
| Stock # |
IGL03096
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
72775386-72947443 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 72836559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 67
(S67T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086411
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089017]
[ENSMUST00000161550]
[ENSMUST00000162478]
|
| AlphaFold |
Q8BX90 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089017
AA Change: S67T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086411
Gene: ENSMUSG00000033487
AA Change: S67T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
120 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
244 |
N/A |
INTRINSIC |
|
FN3
|
266 |
358 |
3.05e-6 |
SMART |
|
FN3
|
371 |
452 |
3.42e-9 |
SMART |
|
FN3
|
467 |
549 |
1.84e-9 |
SMART |
|
FN3
|
564 |
647 |
1.06e-5 |
SMART |
|
FN3
|
662 |
744 |
2.19e-7 |
SMART |
|
FN3
|
759 |
838 |
5.48e-8 |
SMART |
|
FN3
|
864 |
937 |
2.28e-5 |
SMART |
|
FN3
|
951 |
1032 |
3.22e-5 |
SMART |
|
FN3
|
1047 |
1127 |
5.63e0 |
SMART |
|
transmembrane domain
|
1175 |
1197 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160445
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161550
|
| SMART Domains |
Protein: ENSMUSP00000125489
Gene: ENSMUSG00000033487
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
98 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162478
AA Change: S67T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124637
Gene: ENSMUSG00000033487
AA Change: S67T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
120 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
202 |
216 |
N/A |
INTRINSIC |
|
low complexity region
|
228 |
244 |
N/A |
INTRINSIC |
|
FN3
|
266 |
358 |
3.05e-6 |
SMART |
|
FN3
|
371 |
452 |
3.42e-9 |
SMART |
|
Pfam:fn3
|
468 |
540 |
1.9e-6 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000162825
AA Change: S22T
|
| SMART Domains |
Protein: ENSMUSP00000124218
Gene: ENSMUSG00000033487
AA Change: S22T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
158 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
184 |
200 |
N/A |
INTRINSIC |
|
FN3
|
222 |
314 |
3.05e-6 |
SMART |
|
FN3
|
327 |
408 |
3.42e-9 |
SMART |
|
FN3
|
423 |
505 |
1.84e-9 |
SMART |
|
FN3
|
520 |
603 |
1.06e-5 |
SMART |
|
FN3
|
618 |
700 |
2.19e-7 |
SMART |
|
FN3
|
715 |
794 |
5.48e-8 |
SMART |
|
FN3
|
820 |
893 |
2.28e-5 |
SMART |
|
FN3
|
907 |
988 |
3.22e-5 |
SMART |
|
FN3
|
1003 |
1083 |
5.63e0 |
SMART |
|
transmembrane domain
|
1131 |
1153 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162922
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Males homozygous for an insertional mutation are sterile; females are fertile. In mutant males, spermatids form multinucleated syncytia and fail to mature, while Sertoli cells exhibit abnormal cytoplasmic vacuoles. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
A |
G |
11: 80,265,005 (GRCm39) |
F149S |
probably damaging |
Het |
| Ablim2 |
A |
T |
5: 36,040,743 (GRCm39) |
K103* |
probably null |
Het |
| Anapc4 |
C |
T |
5: 53,023,271 (GRCm39) |
T704I |
possibly damaging |
Het |
| Ccar1 |
A |
T |
10: 62,600,112 (GRCm39) |
D606E |
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,904,670 (GRCm39) |
I357V |
probably benign |
Het |
| Col7a1 |
C |
A |
9: 108,784,856 (GRCm39) |
P228H |
unknown |
Het |
| Dock4 |
A |
G |
12: 40,798,000 (GRCm39) |
I875V |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,912,760 (GRCm39) |
T3355A |
probably damaging |
Het |
| Gtf3a |
G |
A |
5: 146,890,763 (GRCm39) |
R248Q |
probably damaging |
Het |
| Hcrtr2 |
T |
A |
9: 76,161,908 (GRCm39) |
M161L |
probably benign |
Het |
| Il27ra |
G |
T |
8: 84,758,161 (GRCm39) |
L530M |
probably damaging |
Het |
| Kcnj15 |
A |
G |
16: 95,097,293 (GRCm39) |
E305G |
probably damaging |
Het |
| Map3k6 |
A |
T |
4: 132,978,656 (GRCm39) |
K1086* |
probably null |
Het |
| Neb |
T |
C |
2: 52,139,484 (GRCm39) |
I3044V |
possibly damaging |
Het |
| Ntng1 |
A |
T |
3: 110,042,665 (GRCm39) |
S54T |
probably benign |
Het |
| Or6c208 |
T |
C |
10: 129,224,318 (GRCm39) |
V272A |
probably damaging |
Het |
| Pah |
T |
C |
10: 87,374,104 (GRCm39) |
|
probably null |
Het |
| Pex3 |
A |
T |
10: 13,410,407 (GRCm39) |
|
probably benign |
Het |
| Plcg1 |
T |
C |
2: 160,599,126 (GRCm39) |
|
probably benign |
Het |
| Pramel27 |
A |
G |
4: 143,577,485 (GRCm39) |
D89G |
probably benign |
Het |
| Prl7c1 |
A |
T |
13: 27,957,689 (GRCm39) |
D250E |
probably damaging |
Het |
| Prrc2c |
C |
T |
1: 162,529,928 (GRCm39) |
G144S |
unknown |
Het |
| Rad51c |
A |
G |
11: 87,279,472 (GRCm39) |
L304P |
probably damaging |
Het |
| Rnf20 |
A |
C |
4: 49,638,615 (GRCm39) |
|
probably benign |
Het |
| Six3 |
A |
G |
17: 85,929,365 (GRCm39) |
N233S |
possibly damaging |
Het |
| Slc2a9 |
T |
A |
5: 38,508,572 (GRCm39) |
I476F |
probably damaging |
Het |
| Trps1 |
A |
C |
15: 50,709,875 (GRCm39) |
H154Q |
probably benign |
Het |
| Uvssa |
T |
C |
5: 33,568,268 (GRCm39) |
V552A |
probably benign |
Het |
| Vmn2r118 |
T |
G |
17: 55,914,996 (GRCm39) |
N550T |
probably damaging |
Het |
| Vmn2r16 |
T |
A |
5: 109,487,751 (GRCm39) |
I208K |
probably damaging |
Het |
|
| Other mutations in Fndc3a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00563:Fndc3a
|
APN |
14 |
72,796,797 (GRCm39) |
splice site |
probably benign |
|
|
IGL01120:Fndc3a
|
APN |
14 |
72,794,102 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01577:Fndc3a
|
APN |
14 |
72,827,298 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01810:Fndc3a
|
APN |
14 |
72,803,581 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01965:Fndc3a
|
APN |
14 |
72,777,842 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01992:Fndc3a
|
APN |
14 |
72,811,996 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02244:Fndc3a
|
APN |
14 |
72,793,807 (GRCm39) |
splice site |
probably benign |
|
|
IGL02639:Fndc3a
|
APN |
14 |
72,811,797 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL03076:Fndc3a
|
APN |
14 |
72,793,908 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
PIT4677001:Fndc3a
|
UTSW |
14 |
72,812,035 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0112:Fndc3a
|
UTSW |
14 |
72,777,935 (GRCm39) |
splice site |
probably benign |
|
|
R0379:Fndc3a
|
UTSW |
14 |
72,794,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0381:Fndc3a
|
UTSW |
14 |
72,794,067 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0544:Fndc3a
|
UTSW |
14 |
72,795,062 (GRCm39) |
splice site |
probably benign |
|
|
R1079:Fndc3a
|
UTSW |
14 |
72,827,247 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1299:Fndc3a
|
UTSW |
14 |
72,803,638 (GRCm39) |
splice site |
probably benign |
|
|
R1424:Fndc3a
|
UTSW |
14 |
72,811,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1453:Fndc3a
|
UTSW |
14 |
72,777,768 (GRCm39) |
nonsense |
probably null |
|
|
R1478:Fndc3a
|
UTSW |
14 |
72,795,072 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1573:Fndc3a
|
UTSW |
14 |
72,806,384 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1574:Fndc3a
|
UTSW |
14 |
72,793,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1574:Fndc3a
|
UTSW |
14 |
72,793,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1743:Fndc3a
|
UTSW |
14 |
72,889,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1852:Fndc3a
|
UTSW |
14 |
72,794,283 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2097:Fndc3a
|
UTSW |
14 |
72,811,791 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2396:Fndc3a
|
UTSW |
14 |
72,921,123 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2512:Fndc3a
|
UTSW |
14 |
72,793,715 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3722:Fndc3a
|
UTSW |
14 |
72,777,648 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5470:Fndc3a
|
UTSW |
14 |
72,812,008 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5757:Fndc3a
|
UTSW |
14 |
72,794,025 (GRCm39) |
missense |
probably benign |
|
|
R5931:Fndc3a
|
UTSW |
14 |
72,806,307 (GRCm39) |
missense |
probably benign |
|
|
R6188:Fndc3a
|
UTSW |
14 |
72,827,401 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6297:Fndc3a
|
UTSW |
14 |
72,800,980 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6638:Fndc3a
|
UTSW |
14 |
72,796,688 (GRCm39) |
nonsense |
probably null |
|
|
R7221:Fndc3a
|
UTSW |
14 |
72,793,597 (GRCm39) |
missense |
probably benign |
|
|
R7571:Fndc3a
|
UTSW |
14 |
72,827,336 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7677:Fndc3a
|
UTSW |
14 |
72,804,854 (GRCm39) |
missense |
probably benign |
|
|
R7744:Fndc3a
|
UTSW |
14 |
72,799,156 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7849:Fndc3a
|
UTSW |
14 |
72,802,100 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8027:Fndc3a
|
UTSW |
14 |
72,790,983 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8152:Fndc3a
|
UTSW |
14 |
72,811,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8225:Fndc3a
|
UTSW |
14 |
72,795,117 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8295:Fndc3a
|
UTSW |
14 |
72,789,959 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8799:Fndc3a
|
UTSW |
14 |
72,793,955 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8955:Fndc3a
|
UTSW |
14 |
72,794,410 (GRCm39) |
missense |
probably benign |
|
|
R9019:Fndc3a
|
UTSW |
14 |
72,811,840 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9120:Fndc3a
|
UTSW |
14 |
72,802,133 (GRCm39) |
missense |
probably benign |
|
|
R9155:Fndc3a
|
UTSW |
14 |
72,921,162 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9281:Fndc3a
|
UTSW |
14 |
72,799,097 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9512:Fndc3a
|
UTSW |
14 |
72,827,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9742:Fndc3a
|
UTSW |
14 |
72,777,693 (GRCm39) |
nonsense |
probably null |
|
|
R9744:Fndc3a
|
UTSW |
14 |
72,777,693 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Fndc3a
|
UTSW |
14 |
72,804,813 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2016-08-02 |
Incidental Mutation