Incidental Mutation 'R8225:Fndc3a'
| ID |
636953 |
| 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 |
067642-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.509)
|
| Stock # |
R8225 (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 72795117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 766
(Q766R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086411
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089017]
|
| AlphaFold |
Q8BX90 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089017
AA Change: Q766R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000086411
Gene: ENSMUSG00000033487
AA Change: Q766R
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000124218
Gene: ENSMUSG00000033487
AA Change: Q721R
| 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: 99.9%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
C |
1: 25,865,597 (GRCm39) |
N82S |
probably benign |
Het |
| Ago3 |
A |
T |
4: 126,247,532 (GRCm39) |
L595Q |
probably damaging |
Het |
| Bpifc |
T |
C |
10: 85,836,431 (GRCm39) |
T25A |
probably benign |
Het |
| Bsn |
T |
A |
9: 107,984,305 (GRCm39) |
T478S |
|
Het |
| Cacna1d |
A |
G |
14: 29,844,990 (GRCm39) |
V720A |
probably benign |
Het |
| Cd109 |
G |
T |
9: 78,568,972 (GRCm39) |
K350N |
probably damaging |
Het |
| Cdk6 |
C |
A |
5: 3,440,790 (GRCm39) |
P115T |
probably benign |
Het |
| Clock |
T |
C |
5: 76,389,759 (GRCm39) |
N363S |
probably damaging |
Het |
| Defa42 |
T |
C |
8: 21,946,418 (GRCm39) |
D39G |
possibly damaging |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| Dock10 |
T |
A |
1: 80,481,447 (GRCm39) |
K517* |
probably null |
Het |
| Dynlt1a |
G |
T |
17: 6,361,628 (GRCm39) |
Q71K |
probably damaging |
Het |
| Epb41l3 |
C |
T |
17: 69,581,796 (GRCm39) |
T591I |
possibly damaging |
Het |
| Exosc10 |
G |
A |
4: 148,649,661 (GRCm39) |
V364I |
possibly damaging |
Het |
| Fabp3-ps1 |
A |
G |
10: 86,568,098 (GRCm39) |
I52T |
noncoding transcript |
Het |
| Gm10608 |
CACACACACAGA |
CA |
9: 118,989,776 (GRCm39) |
|
probably null |
Het |
| Gm10645 |
C |
T |
8: 83,892,467 (GRCm39) |
R80H |
unknown |
Het |
| Gpr146 |
A |
T |
5: 139,378,371 (GRCm39) |
M58L |
probably benign |
Het |
| Gzf1 |
T |
A |
2: 148,532,764 (GRCm39) |
F639L |
probably benign |
Het |
| Kars1 |
T |
C |
8: 112,729,970 (GRCm39) |
I136V |
probably benign |
Het |
| Kcnj3 |
G |
A |
2: 55,327,726 (GRCm39) |
V172M |
probably damaging |
Het |
| Kcnk10 |
A |
G |
12: 98,406,849 (GRCm39) |
|
probably null |
Het |
| Nagpa |
C |
A |
16: 5,016,724 (GRCm39) |
D334Y |
probably damaging |
Het |
| Nsun2 |
T |
C |
13: 69,760,493 (GRCm39) |
I57T |
possibly damaging |
Het |
| Or5b107 |
A |
T |
19: 13,142,507 (GRCm39) |
N43I |
probably damaging |
Het |
| Pax8 |
A |
T |
2: 24,312,983 (GRCm39) |
L432Q |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,139,038 (GRCm39) |
L1710P |
probably damaging |
Het |
| Prdm16 |
A |
G |
4: 154,439,702 (GRCm39) |
|
probably null |
Het |
| Qrich2 |
A |
G |
11: 116,344,894 (GRCm39) |
L1721P |
probably damaging |
Het |
| Sbsn |
TCCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATGAAACCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATGAAACCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATG |
TCCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATGAAACCCACCATGCTTTTGGTCAGGGTGGGAATGTGGCAGACAAGTTAGGTCATG |
7: 30,451,419 (GRCm39) |
|
probably benign |
Het |
| Sbsn |
T |
C |
7: 30,451,869 (GRCm39) |
F295L |
probably benign |
Het |
| Slc4a7 |
C |
T |
14: 14,738,224 (GRCm38) |
R153* |
probably null |
Het |
| Sult6b2 |
A |
T |
6: 142,750,055 (GRCm39) |
M21K |
probably benign |
Het |
| Swt1 |
A |
C |
1: 151,297,859 (GRCm39) |
S23A |
possibly damaging |
Het |
| Synm |
A |
C |
7: 67,408,797 (GRCm39) |
S194A |
probably benign |
Het |
| Sytl2 |
G |
A |
7: 90,024,725 (GRCm39) |
A238T |
probably benign |
Het |
| Tax1bp1 |
G |
A |
6: 52,721,340 (GRCm39) |
|
probably null |
Het |
| Tfr2 |
G |
A |
5: 137,569,725 (GRCm39) |
A74T |
possibly damaging |
Het |
| Tns1 |
G |
A |
1: 74,025,046 (GRCm39) |
T389I |
probably damaging |
Het |
| Trpm2 |
C |
T |
10: 77,783,807 (GRCm39) |
R222Q |
probably damaging |
Het |
| Trpm4 |
A |
G |
7: 44,954,758 (GRCm39) |
C1094R |
probably benign |
Het |
| Ube2q2l |
A |
T |
6: 136,378,110 (GRCm39) |
L240Q |
probably damaging |
Het |
| Uty |
T |
C |
Y: 1,158,634 (GRCm39) |
S471G |
probably benign |
Het |
| Vipr1 |
A |
T |
9: 121,471,915 (GRCm39) |
M1L |
possibly damaging |
Het |
| Vps13b |
A |
G |
15: 35,794,528 (GRCm39) |
R2313G |
probably damaging |
Het |
| Xrn1 |
T |
A |
9: 95,917,720 (GRCm39) |
C1301S |
probably benign |
Het |
| Ythdc1 |
A |
T |
5: 86,964,796 (GRCm39) |
S164C |
possibly damaging |
Het |
| Ythdc1 |
G |
T |
5: 86,964,797 (GRCm39) |
S164I |
possibly damaging |
Het |
| Zbtb9 |
T |
A |
17: 27,193,759 (GRCm39) |
I388N |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 13,978,359 (GRCm39) |
I685V |
probably benign |
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 |
|
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'- GCCTTGTGAATTTATCTAGGACTC -3'
(R):5'- TGAAACGTTAAAGTCTGCGTC -3'
Sequencing Primer
(F):5'- CTCAGTTTTCACATATCTGAAGGAGC -3'
(R):5'- AACGTTAAAGTCTGCGTCTATTTCC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation