Incidental Mutation 'R9744:Fndc3a'
| ID |
731999 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.467)
|
| Stock # |
R9744 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
72775386-72947443 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 72777693 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 1171
(E1171*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086411
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089017]
|
| AlphaFold |
Q8BX90 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000089017
AA Change: E1171*
|
| SMART Domains |
Protein: ENSMUSP00000086411
Gene: ENSMUSG00000033487
AA Change: E1171*
| 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 null
Transcript: ENSMUST00000162825
AA Change: E1126*
|
| SMART Domains |
Protein: ENSMUSP00000124218
Gene: ENSMUSG00000033487
AA Change: E1126*
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.5%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam7 |
T |
A |
14: 68,742,583 (GRCm39) |
M677L |
probably benign |
Het |
| Ankrd24 |
T |
G |
10: 81,482,951 (GRCm39) |
D966E |
possibly damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,094,261 (GRCm39) |
L961P |
probably damaging |
Het |
| Atxn1 |
G |
A |
13: 45,721,299 (GRCm39) |
Q199* |
probably null |
Het |
| Bcl2a1c |
G |
A |
9: 114,159,341 (GRCm39) |
V40I |
probably benign |
Het |
| Cep41 |
A |
G |
6: 30,656,603 (GRCm39) |
V283A |
probably benign |
Het |
| Cerk |
A |
G |
15: 86,033,491 (GRCm39) |
Y311H |
probably damaging |
Het |
| Ciz1 |
A |
T |
2: 32,253,859 (GRCm39) |
Q13L |
unknown |
Het |
| Cpeb2 |
T |
C |
5: 43,391,268 (GRCm39) |
S155P |
|
Het |
| Dmbx1 |
T |
A |
4: 115,777,262 (GRCm39) |
E200D |
probably damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Erc1 |
T |
C |
6: 119,720,360 (GRCm39) |
Y747C |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,637,124 (GRCm39) |
E1114G |
probably damaging |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Gys2 |
A |
C |
6: 142,394,187 (GRCm39) |
D450E |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,623,941 (GRCm39) |
I1120N |
probably damaging |
Het |
| Ints3 |
G |
T |
3: 90,318,605 (GRCm39) |
T210K |
probably damaging |
Het |
| Itih5 |
T |
C |
2: 10,256,221 (GRCm39) |
Y896H |
probably damaging |
Het |
| Kcna7 |
A |
G |
7: 45,056,402 (GRCm39) |
D206G |
probably benign |
Het |
| Klhl10 |
T |
A |
11: 100,336,396 (GRCm39) |
C128S |
probably damaging |
Het |
| Klhl5 |
T |
C |
5: 65,320,255 (GRCm39) |
V603A |
probably damaging |
Het |
| Mapk15 |
T |
A |
15: 75,869,912 (GRCm39) |
I344N |
possibly damaging |
Het |
| Mdn1 |
T |
C |
4: 32,715,711 (GRCm39) |
F1993L |
possibly damaging |
Het |
| Myo1c |
T |
C |
11: 75,562,797 (GRCm39) |
L959P |
probably damaging |
Het |
| Nectin1 |
A |
G |
9: 43,715,240 (GRCm39) |
Q492R |
probably damaging |
Het |
| Nlrp14 |
A |
T |
7: 106,796,987 (GRCm39) |
L951F |
probably damaging |
Het |
| Nlrp5 |
T |
G |
7: 23,120,902 (GRCm39) |
S705R |
possibly damaging |
Het |
| Nlrp9a |
A |
G |
7: 26,267,266 (GRCm39) |
Y787C |
probably benign |
Het |
| Npsr1 |
A |
G |
9: 24,201,182 (GRCm39) |
T189A |
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,209,510 (GRCm39) |
Y1606H |
probably damaging |
Het |
| Or2w4 |
A |
G |
13: 21,795,827 (GRCm39) |
F104S |
possibly damaging |
Het |
| Or4k48 |
C |
A |
2: 111,475,664 (GRCm39) |
R226L |
probably benign |
Het |
| Or6z5 |
A |
T |
7: 6,477,210 (GRCm39) |
I34L |
probably benign |
Het |
| Pitx2 |
A |
T |
3: 129,009,467 (GRCm39) |
T129S |
probably damaging |
Het |
| Pla2g2c |
T |
C |
4: 138,470,972 (GRCm39) |
S118P |
probably damaging |
Het |
| Polr1a |
A |
G |
6: 71,906,372 (GRCm39) |
N396S |
probably benign |
Het |
| Prl |
A |
T |
13: 27,248,338 (GRCm39) |
Q135L |
probably benign |
Het |
| Prrc2c |
A |
G |
1: 162,505,733 (GRCm39) |
L2555P |
possibly damaging |
Het |
| Psg29 |
A |
T |
7: 16,944,495 (GRCm39) |
D335V |
probably benign |
Het |
| Psme4 |
T |
C |
11: 30,765,294 (GRCm39) |
|
probably null |
Het |
| Ramp2 |
T |
A |
11: 101,137,913 (GRCm39) |
S52T |
unknown |
Het |
| Skint6 |
C |
T |
4: 112,666,360 (GRCm39) |
G1155D |
probably damaging |
Het |
| Sorcs1 |
G |
A |
19: 50,215,275 (GRCm39) |
R655C |
probably damaging |
Het |
| Syne1 |
A |
G |
10: 5,274,184 (GRCm39) |
C1867R |
probably benign |
Het |
| Tcf21 |
T |
C |
10: 22,695,726 (GRCm39) |
D26G |
probably benign |
Het |
| Tmem132a |
G |
A |
19: 10,840,678 (GRCm39) |
P418L |
probably damaging |
Het |
| Tob1 |
C |
T |
11: 94,105,054 (GRCm39) |
R197C |
probably damaging |
Het |
| Vmn2r110 |
A |
G |
17: 20,794,848 (GRCm39) |
V607A |
probably damaging |
Het |
| Vmn2r30 |
A |
G |
7: 7,315,284 (GRCm39) |
S850P |
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 |
|
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 |
|
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 |
|
|
Z1176:Fndc3a
|
UTSW |
14 |
72,804,813 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTCAATGCCAGTGCTAAATGC -3'
(R):5'- ATTCCGGTATTCCAGCCTTCAG -3'
Sequencing Primer
(F):5'- CAGTGCTAAATGCCACCATTTTG -3'
(R):5'- CCTTCAGCTGAATTGTGAGTATC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation