Incidental Mutation 'R9019:Fndc3a'
| ID |
686629 |
| 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 |
068849-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.467)
|
| Stock # |
R9019 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
72775386-72947443 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 72811840 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 330
(T330I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086411
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089017]
[ENSMUST00000162478]
|
| AlphaFold |
Q8BX90 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089017
AA Change: T330I
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000086411
Gene: ENSMUSG00000033487
AA Change: T330I
| 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 benign
Transcript: ENSMUST00000162478
AA Change: T330I
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000124637
Gene: ENSMUSG00000033487
AA Change: T330I
| 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: T285I
| 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: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (48/48) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
A |
11: 110,011,522 (GRCm39) |
T1174S |
|
Het |
| Aoc2 |
C |
T |
11: 101,216,262 (GRCm39) |
P115L |
possibly damaging |
Het |
| Arhgef19 |
C |
T |
4: 140,973,738 (GRCm39) |
P75L |
probably benign |
Het |
| Atad3a |
A |
G |
4: 155,838,052 (GRCm39) |
V240A |
possibly damaging |
Het |
| AW551984 |
A |
T |
9: 39,508,973 (GRCm39) |
L317* |
probably null |
Het |
| Bdkrb1 |
T |
C |
12: 105,570,700 (GRCm39) |
S89P |
probably damaging |
Het |
| Bpifb4 |
T |
A |
2: 153,790,607 (GRCm39) |
L166* |
probably null |
Het |
| Ccdc27 |
A |
G |
4: 154,124,014 (GRCm39) |
V173A |
unknown |
Het |
| Ccl8 |
T |
C |
11: 82,006,877 (GRCm39) |
V30A |
probably benign |
Het |
| Cdc16 |
C |
T |
8: 13,831,501 (GRCm39) |
A578V |
probably benign |
Het |
| Cnksr1 |
T |
C |
4: 133,959,365 (GRCm39) |
Y423C |
probably damaging |
Het |
| Cyp3a44 |
T |
C |
5: 145,727,519 (GRCm39) |
D270G |
probably damaging |
Het |
| Ep300 |
A |
G |
15: 81,532,730 (GRCm39) |
E1656G |
unknown |
Het |
| Eppk1 |
A |
G |
15: 75,992,472 (GRCm39) |
F1470L |
probably benign |
Het |
| Fbxw16 |
T |
A |
9: 109,270,135 (GRCm39) |
D202V |
probably damaging |
Het |
| Gm36864 |
A |
T |
7: 43,887,028 (GRCm39) |
Q307L |
probably benign |
Het |
| Gm37240 |
T |
C |
3: 84,426,946 (GRCm39) |
E38G |
probably damaging |
Het |
| Gm6871 |
A |
T |
7: 41,195,262 (GRCm39) |
C492S |
probably damaging |
Het |
| Gnaq |
T |
C |
19: 16,355,638 (GRCm39) |
Y285H |
probably benign |
Het |
| Htt |
T |
A |
5: 35,023,920 (GRCm39) |
F1723I |
probably damaging |
Het |
| Il21r |
G |
A |
7: 125,231,472 (GRCm39) |
S300N |
probably damaging |
Het |
| Itm2b |
G |
A |
14: 73,605,856 (GRCm39) |
|
probably benign |
Het |
| Kat6a |
T |
C |
8: 23,425,754 (GRCm39) |
S1100P |
probably damaging |
Het |
| Kcnj2 |
T |
C |
11: 110,963,415 (GRCm39) |
I269T |
probably damaging |
Het |
| Kmt2c |
G |
A |
5: 25,488,208 (GRCm39) |
A4635V |
probably damaging |
Het |
| Kng2 |
A |
T |
16: 22,847,546 (GRCm39) |
D38E |
probably damaging |
Het |
| Lgr5 |
A |
C |
10: 115,314,454 (GRCm39) |
L161R |
probably damaging |
Het |
| Lrig2 |
A |
T |
3: 104,368,914 (GRCm39) |
I923N |
probably benign |
Het |
| Mrgprh |
T |
C |
17: 13,096,200 (GRCm39) |
S147P |
probably damaging |
Het |
| Mthfd1 |
C |
T |
12: 76,350,754 (GRCm39) |
T712M |
probably benign |
Het |
| Nsmaf |
A |
T |
4: 6,418,523 (GRCm39) |
S427R |
probably damaging |
Het |
| Or8g53 |
G |
T |
9: 39,684,038 (GRCm39) |
D19E |
probably benign |
Het |
| Pdcd11 |
G |
T |
19: 47,101,658 (GRCm39) |
G948C |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,375,612 (GRCm39) |
Y1508H |
probably damaging |
Het |
| Prmt5 |
G |
T |
14: 54,753,564 (GRCm39) |
A105E |
probably benign |
Het |
| Prr23a3 |
T |
C |
9: 98,747,213 (GRCm39) |
S56P |
probably damaging |
Het |
| Slc44a2 |
A |
G |
9: 21,265,077 (GRCm39) |
E705G |
probably damaging |
Het |
| Sostdc1 |
A |
T |
12: 36,364,431 (GRCm39) |
N47Y |
probably benign |
Het |
| Speg |
T |
C |
1: 75,405,882 (GRCm39) |
Y3029H |
probably damaging |
Het |
| Srd5a1 |
G |
A |
13: 69,748,413 (GRCm39) |
R129* |
probably null |
Het |
| Srrm4 |
A |
G |
5: 116,605,586 (GRCm39) |
S224P |
unknown |
Het |
| Syne2 |
A |
G |
12: 75,999,618 (GRCm39) |
E2337G |
possibly damaging |
Het |
| Tmem150c |
C |
A |
5: 100,240,958 (GRCm39) |
V32L |
probably benign |
Het |
| Topaz1 |
T |
C |
9: 122,619,192 (GRCm39) |
I1263T |
possibly damaging |
Het |
| Ttc39d |
C |
T |
17: 80,523,349 (GRCm39) |
R3W |
probably benign |
Het |
| Xylt1 |
T |
C |
7: 117,250,038 (GRCm39) |
|
probably null |
Het |
| Zfp933 |
A |
T |
4: 147,911,021 (GRCm39) |
C192S |
probably damaging |
Het |
| Zswim8 |
G |
A |
14: 20,761,119 (GRCm39) |
G129D |
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 |
|
|
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'- TGACAGGGTAATTAGCTCTTTCC -3'
(R):5'- ACAGCTGTACCAGAGCTCTTC -3'
Sequencing Primer
(F):5'- AGGGTAATTAGCTCTTTCCCTTACTG -3'
(R):5'- ACAGTTTGTGATAAAGGGC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation