Incidental Mutation 'IGL01965:Fndc3a'
| ID |
182500 |
| 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 non essential
(E-score: 0.467)
|
| Stock # |
IGL01965
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
72775386-72947443 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72777842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1121
(I1121T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086411
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089017]
|
| AlphaFold |
Q8BX90 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089017
AA Change: I1121T
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000086411
Gene: ENSMUSG00000033487
AA Change: I1121T
| 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 |
unknown
Transcript: ENSMUST00000162825
AA Change: I1076T
|
| SMART Domains |
Protein: ENSMUSP00000124218
Gene: ENSMUSG00000033487
AA Change: I1076T
| 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 |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933411G06Rik |
T |
A |
10: 51,633,078 (GRCm39) |
|
noncoding transcript |
Het |
| Adm |
C |
T |
7: 110,227,832 (GRCm39) |
L67F |
probably benign |
Het |
| Bcl10 |
C |
T |
3: 145,638,939 (GRCm39) |
R194* |
probably null |
Het |
| Brat1 |
T |
C |
5: 140,703,811 (GRCm39) |
V688A |
probably benign |
Het |
| Cep57 |
T |
A |
9: 13,732,816 (GRCm39) |
|
probably benign |
Het |
| Dhx57 |
G |
A |
17: 80,576,279 (GRCm39) |
R604W |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,305,086 (GRCm39) |
E597G |
probably damaging |
Het |
| Gabra2 |
A |
G |
5: 71,165,418 (GRCm39) |
|
probably benign |
Het |
| Golgb1 |
A |
G |
16: 36,738,282 (GRCm39) |
D2207G |
probably damaging |
Het |
| Htr4 |
T |
A |
18: 62,570,740 (GRCm39) |
M265K |
probably damaging |
Het |
| Igf2r |
C |
T |
17: 12,923,225 (GRCm39) |
V1195M |
probably benign |
Het |
| Itga2 |
C |
A |
13: 114,984,600 (GRCm39) |
|
probably benign |
Het |
| Itih3 |
T |
C |
14: 30,637,677 (GRCm39) |
H494R |
probably damaging |
Het |
| Itpkb |
C |
A |
1: 180,159,970 (GRCm39) |
T32K |
probably damaging |
Het |
| Kif16b |
A |
T |
2: 142,690,325 (GRCm39) |
D252E |
probably damaging |
Het |
| Klhl33 |
A |
G |
14: 51,129,187 (GRCm39) |
Y681H |
probably damaging |
Het |
| Lats1 |
T |
A |
10: 7,577,470 (GRCm39) |
V198E |
probably benign |
Het |
| Me3 |
A |
G |
7: 89,500,951 (GRCm39) |
D554G |
probably benign |
Het |
| Mindy4 |
C |
T |
6: 55,237,517 (GRCm39) |
|
probably benign |
Het |
| Nipa2 |
G |
A |
7: 55,594,371 (GRCm39) |
|
probably benign |
Het |
| Or4c116 |
G |
A |
2: 88,942,535 (GRCm39) |
T107I |
probably benign |
Het |
| Or52r1 |
T |
C |
7: 102,536,814 (GRCm39) |
E182G |
probably damaging |
Het |
| Or5d14 |
A |
G |
2: 87,880,780 (GRCm39) |
F63L |
probably benign |
Het |
| Or8b51 |
A |
T |
9: 38,568,918 (GRCm39) |
F257I |
probably benign |
Het |
| Ptgis |
A |
T |
2: 167,050,173 (GRCm39) |
W319R |
probably benign |
Het |
| Pygl |
C |
T |
12: 70,237,888 (GRCm39) |
A717T |
probably benign |
Het |
| Rbbp8 |
A |
T |
18: 11,855,317 (GRCm39) |
K514I |
probably benign |
Het |
| Scn9a |
A |
T |
2: 66,314,777 (GRCm39) |
L1636H |
probably damaging |
Het |
| Serpina3j |
A |
G |
12: 104,281,063 (GRCm39) |
T79A |
probably benign |
Het |
| Sfxn4 |
A |
G |
19: 60,847,182 (GRCm39) |
|
probably benign |
Het |
| Shc2 |
T |
A |
10: 79,463,023 (GRCm39) |
|
probably benign |
Het |
| Sim2 |
A |
T |
16: 93,922,037 (GRCm39) |
Y294F |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,100,952 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
G |
2: 120,705,879 (GRCm39) |
L1528P |
probably damaging |
Het |
| Usp53 |
A |
G |
3: 122,754,802 (GRCm39) |
|
probably null |
Het |
| Vmn2r87 |
G |
T |
10: 130,314,924 (GRCm39) |
L221I |
possibly 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 |
|
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 |
|
IGL03096:Fndc3a
|
APN |
14 |
72,836,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-05-07 |
Incidental Mutation