Incidental Mutation 'R8152:Fndc3a'
| ID |
633033 |
| 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 |
067578-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.509)
|
| Stock # |
R8152 (G1)
|
| Quality Score |
191.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
72775386-72947443 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 72811820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 337
(L337F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086411
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089017]
[ENSMUST00000162478]
|
| AlphaFold |
Q8BX90 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000089017
AA Change: L337F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086411
Gene: ENSMUSG00000033487
AA Change: L337F
| 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 damaging
Transcript: ENSMUST00000162478
AA Change: L337F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124637
Gene: ENSMUSG00000033487
AA Change: L337F
| 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: L292F
| 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: 99.8%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 92.4%
|
| Validation Efficiency |
99% (74/75) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
A |
G |
5: 77,044,305 (GRCm39) |
L195P |
probably damaging |
Het |
| Adgrb1 |
T |
C |
15: 74,413,460 (GRCm39) |
V548A |
probably benign |
Het |
| Adgrb1 |
T |
C |
15: 74,416,849 (GRCm39) |
I752T |
probably damaging |
Het |
| Adgrb3 |
T |
C |
1: 25,260,838 (GRCm39) |
|
probably null |
Het |
| Adh6a |
G |
T |
3: 138,033,275 (GRCm39) |
|
probably null |
Het |
| Aldh18a1 |
A |
G |
19: 40,553,456 (GRCm39) |
S431P |
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,124,410 (GRCm39) |
R310G |
possibly damaging |
Het |
| Atad5 |
T |
C |
11: 79,985,996 (GRCm39) |
V361A |
possibly damaging |
Het |
| Atp8a1 |
C |
A |
5: 67,919,925 (GRCm39) |
M380I |
|
Het |
| Calcrl |
C |
T |
2: 84,169,593 (GRCm39) |
V363M |
possibly damaging |
Het |
| Camsap1 |
G |
T |
2: 25,830,253 (GRCm39) |
D490E |
probably damaging |
Het |
| Cd72 |
T |
A |
4: 43,452,601 (GRCm39) |
I131F |
possibly damaging |
Het |
| Cdh2 |
C |
T |
18: 16,762,576 (GRCm39) |
G513D |
probably benign |
Het |
| Cela1 |
T |
C |
15: 100,580,822 (GRCm39) |
T145A |
probably benign |
Het |
| Cep250 |
A |
G |
2: 155,811,227 (GRCm39) |
T358A |
probably benign |
Het |
| Cfap99 |
C |
T |
5: 34,480,735 (GRCm39) |
R462C |
probably damaging |
Het |
| Cmtm1 |
A |
G |
8: 105,036,573 (GRCm39) |
S19P |
possibly damaging |
Het |
| Crebbp |
A |
T |
16: 3,902,945 (GRCm39) |
M2098K |
possibly damaging |
Het |
| Csmd3 |
T |
C |
15: 47,532,860 (GRCm39) |
|
probably null |
Het |
| Ctsm |
C |
G |
13: 61,687,463 (GRCm39) |
V100L |
probably benign |
Het |
| Cyp2c67 |
C |
A |
19: 39,628,452 (GRCm39) |
C164F |
probably benign |
Het |
| Cyp2d11 |
T |
C |
15: 82,276,688 (GRCm39) |
I84V |
probably benign |
Het |
| Cyp2j11 |
T |
C |
4: 96,195,529 (GRCm39) |
D389G |
probably damaging |
Het |
| Dctd |
A |
G |
8: 48,564,725 (GRCm39) |
D9G |
probably benign |
Het |
| Fam221a |
C |
A |
6: 49,355,490 (GRCm39) |
F197L |
probably damaging |
Het |
| Fbxl4 |
T |
G |
4: 22,427,225 (GRCm39) |
C489G |
possibly damaging |
Het |
| Fmn1 |
C |
T |
2: 113,196,037 (GRCm39) |
T579M |
unknown |
Het |
| Frmpd2 |
A |
G |
14: 33,265,244 (GRCm39) |
|
probably null |
Het |
| Gdnf |
C |
T |
15: 7,864,243 (GRCm39) |
S218L |
probably damaging |
Het |
| Gen1 |
A |
G |
12: 11,293,266 (GRCm39) |
F444L |
probably damaging |
Het |
| Gk5 |
A |
T |
9: 96,056,756 (GRCm39) |
D391V |
probably damaging |
Het |
| Gys2 |
T |
C |
6: 142,373,136 (GRCm39) |
T612A |
probably benign |
Het |
| Il17ra |
A |
G |
6: 120,459,063 (GRCm39) |
D738G |
probably benign |
Het |
| Isx |
T |
C |
8: 75,616,627 (GRCm39) |
F85L |
probably damaging |
Het |
| Kcnh5 |
T |
C |
12: 74,944,633 (GRCm39) |
D872G |
possibly damaging |
Het |
| Kif26b |
T |
G |
1: 178,506,794 (GRCm39) |
V290G |
possibly damaging |
Het |
| Ksr2 |
T |
C |
5: 117,809,523 (GRCm39) |
C429R |
probably damaging |
Het |
| Loxhd1 |
A |
C |
18: 77,476,095 (GRCm39) |
I1121L |
possibly damaging |
Het |
| Map2 |
T |
C |
1: 66,453,902 (GRCm39) |
F931L |
probably benign |
Het |
| Mepce |
T |
C |
5: 137,782,935 (GRCm39) |
I464V |
probably benign |
Het |
| Mpo |
G |
T |
11: 87,692,475 (GRCm39) |
V538L |
probably benign |
Het |
| Mtarc2 |
T |
A |
1: 184,573,509 (GRCm39) |
M130L |
possibly damaging |
Het |
| Mtrex |
T |
A |
13: 113,009,517 (GRCm39) |
K961* |
probably null |
Het |
| Myom1 |
T |
C |
17: 71,391,290 (GRCm39) |
V933A |
probably damaging |
Het |
| Nckap1l |
T |
G |
15: 103,386,957 (GRCm39) |
|
probably null |
Het |
| Ncmap |
C |
A |
4: 135,104,375 (GRCm39) |
M19I |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,073,848 (GRCm39) |
I5920F |
probably benign |
Het |
| Nnt |
C |
T |
13: 119,511,212 (GRCm39) |
V355I |
probably benign |
Het |
| Nr1i2 |
C |
T |
16: 38,073,326 (GRCm39) |
G217S |
probably damaging |
Het |
| Nsd1 |
A |
G |
13: 55,458,180 (GRCm39) |
R2098G |
possibly damaging |
Het |
| Parp4 |
A |
G |
14: 56,884,703 (GRCm39) |
T1261A |
probably benign |
Het |
| Pcgf3 |
A |
T |
5: 108,635,723 (GRCm39) |
N131I |
probably benign |
Het |
| Plcb2 |
C |
T |
2: 118,541,302 (GRCm39) |
D1012N |
probably benign |
Het |
| Plcl2 |
T |
C |
17: 50,914,689 (GRCm39) |
I566T |
probably damaging |
Het |
| Plekha1 |
G |
A |
7: 130,510,102 (GRCm39) |
A283T |
probably damaging |
Het |
| Prag1 |
A |
T |
8: 36,567,079 (GRCm39) |
M77L |
possibly damaging |
Het |
| Rhbdl2 |
A |
T |
4: 123,718,711 (GRCm39) |
I222L |
probably benign |
Het |
| Rnh1 |
A |
C |
7: 140,740,617 (GRCm39) |
V446G |
probably damaging |
Het |
| Sash1 |
C |
T |
10: 8,626,805 (GRCm39) |
R193H |
possibly damaging |
Het |
| Sgf29 |
G |
T |
7: 126,271,826 (GRCm39) |
V284L |
possibly damaging |
Het |
| Slc12a3 |
G |
A |
8: 95,057,012 (GRCm39) |
G95D |
probably benign |
Het |
| Slc17a7 |
T |
C |
7: 44,819,714 (GRCm39) |
V172A |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,045,510 (GRCm39) |
V1556A |
probably benign |
Het |
| Tex15 |
G |
A |
8: 34,062,921 (GRCm39) |
E784K |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,673,132 (GRCm39) |
E11224G |
unknown |
Het |
| Wipf1 |
G |
A |
2: 73,267,879 (GRCm39) |
P173L |
possibly damaging |
Het |
| Zdbf2 |
C |
T |
1: 63,345,572 (GRCm39) |
T1317I |
possibly damaging |
Het |
| Zfat |
C |
T |
15: 67,973,355 (GRCm39) |
A1147T |
probably benign |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zhx3 |
T |
G |
2: 160,622,695 (GRCm39) |
I491L |
probably benign |
Het |
| Zranb3 |
T |
C |
1: 127,882,732 (GRCm39) |
D1061G |
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 |
|
|
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 |
|
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'- GGGTAATTAGCTCTTTCCCTTACTG -3'
(R):5'- AGACAGCTGTACCAGAGCTC -3'
Sequencing Primer
(F):5'- CCTTACTGTACCACTTACATTTGAG -3'
(R):5'- ACAGTTTGTGATAAAGGGC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation