Incidental Mutation 'R1079:Fndc3a'
| ID |
85800 |
| 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 |
039165-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.509)
|
| Stock # |
R1079 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
72775386-72947443 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 72827247 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 146
(M146K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124637
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089017]
[ENSMUST00000161550]
[ENSMUST00000162478]
|
| AlphaFold |
Q8BX90 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089017
AA Change: M146K
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000086411
Gene: ENSMUSG00000033487
AA Change: M146K
| 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: M146K
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000124637
Gene: ENSMUSG00000033487
AA Change: M146K
| 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 |
unknown
Transcript: ENSMUST00000162825
AA Change: M101K
|
| SMART Domains |
Protein: ENSMUSP00000124218
Gene: ENSMUSG00000033487
AA Change: M101K
| 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 |
0.5669 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.6%
|
| Validation Efficiency |
98% (46/47) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2200002J24Rik |
T |
C |
7: 30,399,209 (GRCm39) |
M1T |
probably null |
Het |
| Adam25 |
T |
C |
8: 41,208,513 (GRCm39) |
V593A |
possibly damaging |
Het |
| Agrn |
C |
T |
4: 156,261,682 (GRCm39) |
C536Y |
probably damaging |
Het |
| Amigo3 |
T |
C |
9: 107,931,051 (GRCm39) |
M158T |
probably benign |
Het |
| Arsa |
G |
A |
15: 89,358,428 (GRCm39) |
|
probably benign |
Het |
| Baz1a |
T |
A |
12: 54,941,785 (GRCm39) |
I1474L |
possibly damaging |
Het |
| Cfap144 |
A |
G |
11: 58,692,620 (GRCm39) |
Y36H |
probably benign |
Het |
| Cfap65 |
A |
G |
1: 74,944,872 (GRCm39) |
V1455A |
probably damaging |
Het |
| Cfap65 |
G |
A |
1: 74,941,606 (GRCm39) |
A1776V |
probably damaging |
Het |
| Cnot6 |
G |
T |
11: 49,575,930 (GRCm39) |
D176E |
probably benign |
Het |
| Crot |
A |
T |
5: 9,043,504 (GRCm39) |
|
probably null |
Het |
| Cryba2 |
A |
T |
1: 74,929,717 (GRCm39) |
V140E |
probably damaging |
Het |
| Dennd4b |
G |
A |
3: 90,178,485 (GRCm39) |
R516K |
probably benign |
Het |
| Dst |
C |
A |
1: 34,225,944 (GRCm39) |
T1697N |
possibly damaging |
Het |
| Eftud2 |
G |
T |
11: 102,730,870 (GRCm39) |
Y837* |
probably null |
Het |
| Evpl |
G |
T |
11: 116,120,894 (GRCm39) |
T447K |
possibly damaging |
Het |
| Folh1 |
G |
T |
7: 86,421,089 (GRCm39) |
T80K |
probably damaging |
Het |
| Gm4922 |
T |
A |
10: 18,660,086 (GRCm39) |
Y212F |
probably damaging |
Het |
| Gtf2i |
T |
G |
5: 134,271,748 (GRCm39) |
|
probably benign |
Het |
| Hipk3 |
A |
G |
2: 104,302,043 (GRCm39) |
F50L |
probably benign |
Het |
| Ifit1bl2 |
T |
A |
19: 34,596,885 (GRCm39) |
T244S |
probably benign |
Het |
| Ikzf2 |
T |
C |
1: 69,578,264 (GRCm39) |
D341G |
possibly damaging |
Het |
| Kif3a |
G |
C |
11: 53,461,408 (GRCm39) |
V17L |
possibly damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lzts2 |
T |
A |
19: 45,011,983 (GRCm39) |
N137K |
probably damaging |
Het |
| Mphosph8 |
T |
A |
14: 56,911,716 (GRCm39) |
D246E |
probably damaging |
Het |
| Myh14 |
T |
C |
7: 44,279,426 (GRCm39) |
E918G |
probably damaging |
Het |
| N6amt1 |
T |
C |
16: 87,153,086 (GRCm39) |
V52A |
probably damaging |
Het |
| Npr2 |
A |
C |
4: 43,643,654 (GRCm39) |
T561P |
probably damaging |
Het |
| Nudt12 |
G |
A |
17: 59,318,032 (GRCm39) |
|
probably benign |
Het |
| Or10ad1 |
A |
C |
15: 98,106,223 (GRCm39) |
V14G |
probably damaging |
Het |
| Or5w8 |
A |
G |
2: 87,687,699 (GRCm39) |
Y60C |
probably damaging |
Het |
| Or6n2 |
A |
T |
1: 173,897,032 (GRCm39) |
H56L |
possibly damaging |
Het |
| Or8k22 |
T |
A |
2: 86,163,185 (GRCm39) |
R172W |
probably damaging |
Het |
| Pan2 |
A |
G |
10: 128,154,107 (GRCm39) |
T1050A |
probably damaging |
Het |
| Rad17 |
G |
T |
13: 100,770,407 (GRCm39) |
D213E |
probably benign |
Het |
| Sall2 |
T |
A |
14: 52,550,660 (GRCm39) |
H843L |
probably benign |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Sema3e |
A |
T |
5: 14,275,669 (GRCm39) |
N258I |
probably benign |
Het |
| Siglec1 |
G |
A |
2: 130,921,297 (GRCm39) |
R625* |
probably null |
Het |
| Slc15a3 |
T |
C |
19: 10,833,344 (GRCm39) |
S454P |
probably benign |
Het |
| Sp110 |
G |
A |
1: 85,516,825 (GRCm39) |
|
probably benign |
Het |
| Spatc1l |
T |
C |
10: 76,399,741 (GRCm39) |
S88P |
probably damaging |
Het |
| Ssh3 |
A |
C |
19: 4,316,577 (GRCm39) |
L143R |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,587,340 (GRCm39) |
|
probably benign |
Het |
| Vps35 |
A |
G |
8: 86,005,683 (GRCm39) |
L306S |
probably damaging |
Het |
| Zfp729a |
T |
C |
13: 67,767,794 (GRCm39) |
I812V |
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 |
|
|
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 |
|
|
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'- GCTGGAGACCTATTGCATCATGAAGAC -3'
(R):5'- TTGACCCCATTGTGCCCAAACC -3'
Sequencing Primer
(F):5'- TGCATCATGAAGACAAAGTTCC -3'
(R):5'- CTTCAGCAGAGACTTGTAACCTG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation