Incidental Mutation 'R6188:Fndc3a'
ID |
502334 |
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 |
044328-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.509)
|
Stock # |
R6188 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
72775386-72947443 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 72827401 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 50
(V50I)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089017]
[ENSMUST00000161550]
[ENSMUST00000162478]
|
AlphaFold |
Q8BX90 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000089017
AA Change: V95I
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000086411 Gene: ENSMUSG00000033487 AA Change: V95I
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 |
possibly damaging
Transcript: ENSMUST00000162478
AA Change: V95I
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000124637 Gene: ENSMUSG00000033487 AA Change: V95I
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 |
probably damaging
Transcript: ENSMUST00000162825
AA Change: V50I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000124218 Gene: ENSMUSG00000033487 AA Change: V50I
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 |
|
Meta Mutation Damage Score |
0.1195 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
98% (61/62) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210408I21Rik |
A |
T |
13: 77,331,850 (GRCm39) |
I88F |
possibly damaging |
Het |
4930407I10Rik |
T |
C |
15: 81,943,471 (GRCm39) |
S28P |
probably benign |
Het |
a |
A |
T |
2: 154,889,602 (GRCm39) |
N56I |
probably damaging |
Het |
Apoe |
C |
A |
7: 19,432,305 (GRCm39) |
|
probably benign |
Het |
Aspm |
C |
A |
1: 139,406,977 (GRCm39) |
R1955S |
possibly damaging |
Het |
Boc |
G |
A |
16: 44,319,911 (GRCm39) |
L358F |
possibly damaging |
Het |
Cadm2 |
A |
T |
16: 66,612,195 (GRCm39) |
|
probably null |
Het |
Ccdc183 |
T |
C |
2: 25,499,764 (GRCm39) |
E384G |
probably benign |
Het |
Ccl12 |
A |
G |
11: 81,993,943 (GRCm39) |
T67A |
probably damaging |
Het |
Cep120 |
T |
C |
18: 53,857,529 (GRCm39) |
D312G |
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,229,952 (GRCm39) |
V1712A |
possibly damaging |
Het |
Cmya5 |
A |
G |
13: 93,233,784 (GRCm39) |
S435P |
possibly damaging |
Het |
Dmbt1 |
A |
T |
7: 130,699,361 (GRCm39) |
N997Y |
probably damaging |
Het |
Dock2 |
T |
A |
11: 34,453,396 (GRCm39) |
I86F |
probably damaging |
Het |
Duox1 |
A |
G |
2: 122,150,275 (GRCm39) |
Q168R |
probably benign |
Het |
Epb41l4a |
T |
A |
18: 33,965,718 (GRCm39) |
I370L |
probably benign |
Het |
Erc2 |
T |
A |
14: 28,039,208 (GRCm39) |
D950E |
probably damaging |
Het |
Exoc6b |
A |
G |
6: 84,832,479 (GRCm39) |
V405A |
probably damaging |
Het |
F13a1 |
T |
C |
13: 37,209,752 (GRCm39) |
D71G |
probably benign |
Het |
Fam151a |
A |
T |
4: 106,602,696 (GRCm39) |
Y205F |
possibly damaging |
Het |
Fcnb |
C |
A |
2: 27,969,202 (GRCm39) |
R165M |
possibly damaging |
Het |
Gm13276 |
C |
T |
4: 88,704,096 (GRCm39) |
Q51* |
probably null |
Het |
Grik1 |
T |
C |
16: 87,852,959 (GRCm39) |
T75A |
probably benign |
Het |
Grip2 |
A |
G |
6: 91,740,514 (GRCm39) |
L1015P |
probably damaging |
Het |
Hnrnpk |
A |
G |
13: 58,541,967 (GRCm39) |
F339L |
probably benign |
Het |
Iqgap3 |
A |
G |
3: 88,006,200 (GRCm39) |
D537G |
probably benign |
Het |
Kars1 |
C |
T |
8: 112,735,113 (GRCm39) |
|
probably null |
Het |
Kpna7 |
G |
T |
5: 144,929,654 (GRCm39) |
N390K |
probably damaging |
Het |
Krt36 |
A |
T |
11: 99,993,246 (GRCm39) |
S410T |
probably benign |
Het |
Lingo4 |
A |
G |
3: 94,310,157 (GRCm39) |
E365G |
probably damaging |
Het |
Liph |
T |
C |
16: 21,803,018 (GRCm39) |
D17G |
probably benign |
Het |
Lmbrd1 |
C |
A |
1: 24,750,626 (GRCm39) |
N166K |
probably benign |
Het |
Lypd9 |
T |
C |
11: 58,337,182 (GRCm39) |
E97G |
probably benign |
Het |
Nup155 |
T |
C |
15: 8,139,059 (GRCm39) |
S44P |
probably damaging |
Het |
Or2m12 |
A |
G |
16: 19,105,307 (GRCm39) |
M62T |
probably damaging |
Het |
Or4a72 |
A |
T |
2: 89,405,538 (GRCm39) |
C177* |
probably null |
Het |
Or5a3 |
A |
G |
19: 12,399,974 (GRCm39) |
I100M |
probably benign |
Het |
Pcdhga6 |
T |
C |
18: 37,841,324 (GRCm39) |
V348A |
probably benign |
Het |
Phc3 |
G |
A |
3: 30,991,198 (GRCm39) |
Q295* |
probably null |
Het |
Phyh |
A |
G |
2: 4,932,301 (GRCm39) |
E129G |
probably damaging |
Het |
Polb |
A |
G |
8: 23,137,463 (GRCm39) |
S96P |
probably damaging |
Het |
Ppp1r9a |
A |
T |
6: 5,158,113 (GRCm39) |
K1174* |
probably null |
Het |
Ppp1r9b |
C |
T |
11: 94,882,662 (GRCm39) |
R97W |
probably damaging |
Het |
Pttg1ip |
T |
C |
10: 77,418,342 (GRCm39) |
|
probably null |
Het |
Pygm |
G |
A |
19: 6,447,967 (GRCm39) |
|
probably null |
Het |
Rgs20 |
GGAGAGAG |
GGAGAG |
1: 5,091,106 (GRCm39) |
|
probably null |
Het |
Rlf |
T |
C |
4: 121,027,963 (GRCm39) |
H111R |
probably damaging |
Het |
Rmdn3 |
A |
G |
2: 118,969,831 (GRCm39) |
|
probably null |
Het |
Ror2 |
T |
A |
13: 53,265,347 (GRCm39) |
T570S |
probably damaging |
Het |
Sel1l3 |
A |
C |
5: 53,313,061 (GRCm39) |
I542R |
possibly damaging |
Het |
Serpinb3d |
A |
G |
1: 107,006,237 (GRCm39) |
F284L |
probably damaging |
Het |
Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
Slc38a2 |
A |
G |
15: 96,590,397 (GRCm39) |
|
probably null |
Het |
Spata31e2 |
T |
A |
1: 26,724,784 (GRCm39) |
Y132F |
probably damaging |
Het |
Spata31h1 |
A |
G |
10: 82,121,091 (GRCm39) |
I3973T |
probably damaging |
Het |
Tet2 |
T |
C |
3: 133,186,087 (GRCm39) |
S1117G |
probably benign |
Het |
Trav15-1-dv6-1 |
C |
T |
14: 53,797,414 (GRCm39) |
A21V |
probably damaging |
Het |
Tsr3 |
G |
T |
17: 25,460,835 (GRCm39) |
D234Y |
probably null |
Het |
Vmn1r220 |
A |
T |
13: 23,368,084 (GRCm39) |
L204H |
probably damaging |
Het |
Vmn1r3 |
A |
T |
4: 3,185,017 (GRCm39) |
S97T |
probably damaging |
Het |
Zfp599 |
A |
G |
9: 22,161,286 (GRCm39) |
F293S |
probably damaging |
Het |
Zfp983 |
A |
G |
17: 21,877,935 (GRCm39) |
Y46C |
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 |
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 |
|
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'- TGTCAGGGATGGCCAAAAC -3'
(R):5'- AGTGCTGATTTAGTCCCTAATGTG -3'
Sequencing Primer
(F):5'- GACTGATACTGCGGCATATACTG -3'
(R):5'- CTGATTTAGTCCCTAATGTGTTGAG -3'
|
Posted On |
2018-02-27 |