Incidental Mutation 'R2396:Fndc3a'
| ID |
248537 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R2396 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
72775386-72947443 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72921123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 17
(D17G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124637
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089017]
[ENSMUST00000162478]
|
| AlphaFold |
Q8BX90 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089017
AA Change: D17G
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000086411
Gene: ENSMUSG00000033487
AA Change: D17G
| 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 |
possibly damaging
Transcript: ENSMUST00000162478
AA Change: D17G
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124637
Gene: ENSMUSG00000033487
AA Change: D17G
| 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 |
noncoding transcript
Transcript: ENSMUST00000162922
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163013
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
| 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
G |
A |
4: 86,261,356 (GRCm39) |
W1189* |
probably null |
Het |
| Col4a4 |
C |
G |
1: 82,484,793 (GRCm39) |
M491I |
unknown |
Het |
| Col5a1 |
C |
A |
2: 27,876,741 (GRCm39) |
D813E |
unknown |
Het |
| Cyp4b1 |
T |
C |
4: 115,498,843 (GRCm39) |
Y113C |
probably benign |
Het |
| Dmac1 |
A |
G |
4: 75,196,458 (GRCm39) |
F11L |
unknown |
Het |
| Dnah9 |
G |
T |
11: 65,975,984 (GRCm39) |
T1355K |
probably benign |
Het |
| Efemp1 |
G |
A |
11: 28,817,941 (GRCm39) |
R140Q |
possibly damaging |
Het |
| Elapor2 |
T |
C |
5: 9,485,395 (GRCm39) |
L519P |
possibly damaging |
Het |
| Grm8 |
C |
T |
6: 27,761,241 (GRCm39) |
A328T |
probably damaging |
Het |
| Lepr |
C |
A |
4: 101,590,725 (GRCm39) |
A101E |
probably benign |
Het |
| Ncapg |
A |
G |
5: 45,835,715 (GRCm39) |
N382S |
probably benign |
Het |
| Or10am5 |
C |
A |
7: 6,517,784 (GRCm39) |
V215F |
probably damaging |
Het |
| Or5m13b |
T |
C |
2: 85,754,269 (GRCm39) |
I219T |
probably benign |
Het |
| Pacs2 |
G |
A |
12: 113,026,987 (GRCm39) |
D605N |
probably damaging |
Het |
| Pigb |
T |
A |
9: 72,922,553 (GRCm39) |
R11* |
probably null |
Het |
| Prl8a1 |
C |
A |
13: 27,758,007 (GRCm39) |
R234L |
probably benign |
Het |
| Spred3 |
T |
C |
7: 28,866,059 (GRCm39) |
H80R |
probably damaging |
Het |
| Sptlc3 |
T |
C |
2: 139,408,506 (GRCm39) |
I207T |
probably benign |
Het |
| Tll1 |
C |
A |
8: 64,523,324 (GRCm39) |
G463* |
probably null |
Het |
| Tm4sf4 |
T |
G |
3: 57,345,181 (GRCm39) |
C196G |
unknown |
Het |
| Tmem87a |
A |
T |
2: 120,234,540 (GRCm39) |
M1K |
probably null |
Het |
| Tmem92 |
A |
G |
11: 94,673,233 (GRCm39) |
L10P |
probably damaging |
Het |
| Trdn |
A |
T |
10: 33,071,978 (GRCm39) |
E215V |
probably damaging |
Het |
| Trpm2 |
A |
T |
10: 77,766,471 (GRCm39) |
D849E |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTAAGAAGGTGTGTGAGCA -3'
(R):5'- ACAGTTTGTTTGTTAGTGAGGCA -3'
Sequencing Primer
(F):5'- CCAAGACAAAACTTTCCTAGGGG -3'
(R):5'- TGTTTGTTAGTGAGGCAATTCC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation