Incidental Mutation 'R9120:Fndc3a'
ID |
692746 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fndc3a
|
Ensembl Gene |
ENSMUSG00000033487 |
Gene Name |
fibronectin type III domain containing 3A |
Synonyms |
sys, F730017H24Rik, Fndc3, D14Ertd453e, 1700094E19Rik |
MMRRC Submission |
068923-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.467)
|
Stock # |
R9120 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
72775386-72947443 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72802133 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 557
(F557L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000086411
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089017]
[ENSMUST00000162478]
|
AlphaFold |
Q8BX90 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089017
AA Change: F557L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000086411 Gene: ENSMUSG00000033487 AA Change: F557L
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 |
probably benign
Transcript: ENSMUST00000162478
|
SMART Domains |
Protein: ENSMUSP00000124637 Gene: ENSMUSG00000033487
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 |
|
SMART Domains |
Protein: ENSMUSP00000124218 Gene: ENSMUSG00000033487 AA Change: F512L
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (54/54) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
A |
G |
8: 41,209,141 (GRCm39) |
|
probably benign |
Het |
Adgrb2 |
A |
G |
4: 129,906,302 (GRCm39) |
N910S |
possibly damaging |
Het |
Arhgap24 |
A |
T |
5: 103,040,016 (GRCm39) |
I411F |
probably benign |
Het |
BC030500 |
T |
A |
8: 59,365,911 (GRCm39) |
L15Q |
unknown |
Het |
BC051665 |
A |
G |
13: 60,932,916 (GRCm39) |
V15A |
probably benign |
Het |
Bicc1 |
T |
C |
10: 70,776,862 (GRCm39) |
D732G |
probably damaging |
Het |
Bpifb1 |
A |
G |
2: 154,046,692 (GRCm39) |
I71V |
probably benign |
Het |
Btnl1 |
A |
T |
17: 34,598,681 (GRCm39) |
Q99L |
possibly damaging |
Het |
Castor1 |
T |
A |
11: 4,170,767 (GRCm39) |
V196D |
possibly damaging |
Het |
Col9a2 |
G |
T |
4: 120,900,951 (GRCm39) |
|
probably benign |
Het |
D7Ertd443e |
T |
A |
7: 133,871,986 (GRCm39) |
D625V |
probably damaging |
Het |
Dchs2 |
A |
T |
3: 83,187,535 (GRCm39) |
D1327V |
probably damaging |
Het |
Ddx1 |
A |
G |
12: 13,275,458 (GRCm39) |
V543A |
possibly damaging |
Het |
Dgkz |
G |
T |
2: 91,768,545 (GRCm39) |
D714E |
probably benign |
Het |
Dlk1 |
A |
G |
12: 109,424,051 (GRCm39) |
D105G |
probably benign |
Het |
Gm28042 |
C |
T |
2: 119,869,462 (GRCm39) |
L609F |
probably damaging |
Het |
Gsap |
A |
G |
5: 21,458,434 (GRCm39) |
I473V |
probably damaging |
Het |
Jag1 |
A |
T |
2: 136,930,354 (GRCm39) |
M730K |
probably benign |
Het |
Kazald1 |
A |
T |
19: 45,065,211 (GRCm39) |
T31S |
probably benign |
Het |
Ldhb |
A |
G |
6: 142,439,935 (GRCm39) |
W202R |
probably damaging |
Het |
Lrrcc1 |
C |
T |
3: 14,615,489 (GRCm39) |
Q528* |
probably null |
Het |
Magi2 |
A |
T |
5: 20,733,305 (GRCm39) |
K525I |
possibly damaging |
Het |
Map2 |
A |
G |
1: 66,453,218 (GRCm39) |
I703V |
probably damaging |
Het |
Mdn1 |
A |
T |
4: 32,701,814 (GRCm39) |
M1516L |
probably damaging |
Het |
Mpzl2 |
T |
A |
9: 44,958,583 (GRCm39) |
S186R |
probably benign |
Het |
Mtif2 |
T |
C |
11: 29,483,951 (GRCm39) |
M208T |
probably benign |
Het |
Myo3a |
T |
C |
2: 22,436,464 (GRCm39) |
V873A |
probably benign |
Het |
Or10ac1 |
A |
C |
6: 42,515,583 (GRCm39) |
Y124* |
probably null |
Het |
Or1j4 |
T |
A |
2: 36,740,143 (GRCm39) |
Y28* |
probably null |
Het |
Or5d38 |
A |
G |
2: 87,955,123 (GRCm39) |
S69P |
probably damaging |
Het |
Or5p6 |
T |
C |
7: 107,630,887 (GRCm39) |
Y221C |
probably damaging |
Het |
Or8g51 |
A |
G |
9: 38,608,735 (GRCm39) |
F309S |
probably benign |
Het |
Pgap4 |
A |
G |
4: 49,587,093 (GRCm39) |
V25A |
probably benign |
Het |
Plod2 |
G |
T |
9: 92,424,380 (GRCm39) |
|
probably benign |
Het |
Rgs14 |
A |
C |
13: 55,528,792 (GRCm39) |
D311A |
probably damaging |
Het |
Rin1 |
C |
A |
19: 5,103,048 (GRCm39) |
P446T |
probably damaging |
Het |
Ripor3 |
T |
C |
2: 167,822,835 (GRCm39) |
K909E |
possibly damaging |
Het |
Rnf139 |
T |
C |
15: 58,771,685 (GRCm39) |
L570P |
probably damaging |
Het |
Snx17 |
A |
G |
5: 31,355,026 (GRCm39) |
E347G |
probably damaging |
Het |
Spaca1 |
A |
G |
4: 34,029,168 (GRCm39) |
S220P |
probably damaging |
Het |
Spen |
G |
T |
4: 141,200,233 (GRCm39) |
T2798K |
|
Het |
Tacc1 |
G |
T |
8: 25,659,255 (GRCm39) |
S570R |
probably damaging |
Het |
Tmem135 |
G |
C |
7: 88,797,186 (GRCm39) |
L357V |
probably benign |
Het |
Trim63 |
G |
A |
4: 134,055,003 (GRCm39) |
|
probably benign |
Het |
Trmt2a |
C |
A |
16: 18,067,722 (GRCm39) |
R132S |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,768,716 (GRCm39) |
E2952G |
unknown |
Het |
Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
Vmn1r211 |
A |
T |
13: 23,035,936 (GRCm39) |
F244I |
probably damaging |
Het |
Vmn2r86 |
T |
G |
10: 130,289,677 (GRCm39) |
S73R |
probably benign |
Het |
Wdr27 |
A |
G |
17: 15,152,846 (GRCm39) |
L87P |
probably damaging |
Het |
Zfp148 |
A |
G |
16: 33,317,596 (GRCm39) |
N756S |
probably benign |
Het |
Zfp57 |
G |
A |
17: 37,320,650 (GRCm39) |
R168H |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTCTTCTCTTCTAAGGATGAATGGG -3'
(R):5'- GGCTGTCAATTACAAGCACAC -3'
Sequencing Primer
(F):5'- TGGGAAAAATTTCTAGCAACAGGTAC -3'
(R):5'- GCTGTCAATTACAAGCACACTTAATG -3'
|
Posted On |
2021-12-30 |