Incidental Mutation 'R9512:Fndc3a'
| ID |
718245 |
| 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 # |
R9512 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
72775386-72947443 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 72827424 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 87
(E87G)
|
| 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: E87G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000086411
Gene: ENSMUSG00000033487
AA Change: E87G
| 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: E87G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124637
Gene: ENSMUSG00000033487
AA Change: E87G
| 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: E42G
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
C |
T |
7: 120,022,963 (GRCm39) |
A33V |
probably benign |
Het |
| Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
| Alkbh8 |
G |
T |
9: 3,367,959 (GRCm39) |
R325M |
probably damaging |
Het |
| Ap1g1 |
T |
C |
8: 110,529,687 (GRCm39) |
S36P |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,391,864 (GRCm39) |
D1745G |
probably benign |
Het |
| Bnipl |
A |
G |
3: 95,150,369 (GRCm39) |
V292A |
probably benign |
Het |
| Brca2 |
C |
T |
5: 150,454,546 (GRCm39) |
A103V |
probably benign |
Het |
| Capn3 |
G |
A |
2: 120,326,535 (GRCm39) |
E576K |
probably damaging |
Het |
| Eif2ak4 |
G |
A |
2: 118,293,196 (GRCm39) |
G1372S |
probably damaging |
Het |
| Ephb6 |
G |
A |
6: 41,593,030 (GRCm39) |
E423K |
possibly damaging |
Het |
| Esrp1 |
A |
G |
4: 11,365,449 (GRCm39) |
V213A |
probably benign |
Het |
| Foxn1 |
G |
T |
11: 78,262,035 (GRCm39) |
S111R |
|
Het |
| Fyb2 |
G |
A |
4: 104,853,100 (GRCm39) |
R564Q |
probably benign |
Het |
| Henmt1 |
A |
G |
3: 108,867,445 (GRCm39) |
I327V |
probably benign |
Het |
| Hsdl2 |
A |
T |
4: 59,594,464 (GRCm39) |
R117* |
probably null |
Het |
| Kif18a |
A |
G |
2: 109,171,517 (GRCm39) |
T865A |
probably benign |
Het |
| Lrrcc1 |
T |
C |
3: 14,613,301 (GRCm39) |
L463P |
possibly damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Meiosin |
T |
A |
7: 18,838,860 (GRCm39) |
T156S |
unknown |
Het |
| Mroh4 |
C |
A |
15: 74,485,095 (GRCm39) |
R539L |
probably benign |
Het |
| Nln |
A |
T |
13: 104,198,274 (GRCm39) |
H179Q |
possibly damaging |
Het |
| Nrg2 |
A |
G |
18: 36,179,010 (GRCm39) |
F309L |
probably benign |
Het |
| Ntng2 |
T |
C |
2: 29,117,969 (GRCm39) |
T160A |
possibly damaging |
Het |
| Or1j10 |
T |
C |
2: 36,267,325 (GRCm39) |
L179P |
possibly damaging |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Or4x12-ps1 |
A |
G |
2: 89,916,721 (GRCm39) |
L28P |
possibly damaging |
Het |
| Or9s14 |
T |
C |
1: 92,535,990 (GRCm39) |
C144R |
probably benign |
Het |
| Orc6 |
T |
A |
8: 86,029,522 (GRCm39) |
I98N |
|
Het |
| Pcdha8 |
A |
C |
18: 37,126,624 (GRCm39) |
I369L |
possibly damaging |
Het |
| Plk2 |
C |
T |
13: 110,536,673 (GRCm39) |
T655M |
probably damaging |
Het |
| Pou1f1 |
A |
G |
16: 65,320,502 (GRCm39) |
T66A |
probably benign |
Het |
| Ppp1r9a |
A |
T |
6: 5,113,681 (GRCm39) |
E728D |
probably benign |
Het |
| Ppp1r9a |
T |
C |
6: 5,115,364 (GRCm39) |
V829A |
probably damaging |
Het |
| Psd |
T |
C |
19: 46,306,154 (GRCm39) |
K46R |
possibly damaging |
Het |
| Slc25a51 |
T |
C |
4: 45,399,360 (GRCm39) |
I277V |
probably benign |
Het |
| Slc9a2 |
T |
G |
1: 40,721,258 (GRCm39) |
D75E |
probably damaging |
Het |
| Slitrk5 |
A |
G |
14: 111,917,252 (GRCm39) |
Y292C |
probably damaging |
Het |
| Snap91 |
T |
G |
9: 86,665,392 (GRCm39) |
T667P |
unknown |
Het |
| Spata16 |
G |
C |
3: 26,722,093 (GRCm39) |
E205Q |
possibly damaging |
Het |
| Stard6 |
G |
A |
18: 70,633,601 (GRCm39) |
V203I |
probably benign |
Het |
| Stra8 |
G |
A |
6: 34,909,988 (GRCm39) |
A137T |
probably benign |
Het |
| Toporsl |
A |
G |
4: 52,610,382 (GRCm39) |
T92A |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,643,160 (GRCm39) |
N4174S |
probably damaging |
Het |
| Vmn1r232 |
A |
C |
17: 21,134,416 (GRCm39) |
S61R |
probably damaging |
Het |
| Zfp263 |
T |
C |
16: 3,564,306 (GRCm39) |
S199P |
probably damaging |
Het |
| Zfp616 |
G |
A |
11: 73,975,936 (GRCm39) |
C735Y |
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 |
|
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 |
|
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'- ATACTGCGTTGCCATGTCGC -3'
(R):5'- TCCTAGCTCAGTGTTAACTCATAGTG -3'
Sequencing Primer
(F):5'- ATGTCGCCAGCTCCAGTCAC -3'
(R):5'- GCTCAGTGTTAACTCATAGTGTAGTC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation