Incidental Mutation 'R1602:Fam35a'
| ID |
176224 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam35a
|
| Ensembl Gene |
ENSMUSG00000041471 |
| Gene Name |
family with sequence similarity 35, member A |
| Synonyms |
3110001K24Rik |
| MMRRC Submission |
039639-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R1602 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
34237033-34310493 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34267650 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 433
(I433T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154080
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111917]
[ENSMUST00000227006]
[ENSMUST00000227375]
[ENSMUST00000228337]
[ENSMUST00000228626]
[ENSMUST00000228704]
|
| AlphaFold |
Q3UEN2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111917
AA Change: I433T
PolyPhen 2
Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000107548
Gene: ENSMUSG00000041471
AA Change: I433T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
66 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
163 |
177 |
N/A |
INTRINSIC |
|
Pfam:FAM35_C
|
694 |
866 |
4.6e-84 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227006
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227375
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228310
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228337
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228626
AA Change: I433T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228704
|
| Meta Mutation Damage Score |
0.4538 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.4%
|
| Validation Efficiency |
91% (49/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd12 |
A |
T |
17: 65,983,688 |
Y1583* |
probably null |
Het |
| Ankrd34c |
T |
C |
9: 89,729,005 |
T428A |
possibly damaging |
Het |
| Arfgef1 |
G |
C |
1: 10,204,890 |
I312M |
probably benign |
Het |
| Atr |
T |
C |
9: 95,951,557 |
L2620P |
probably damaging |
Het |
| Ccdc110 |
A |
G |
8: 45,938,918 |
Y54C |
probably benign |
Het |
| Cecr2 |
T |
C |
6: 120,755,587 |
V480A |
possibly damaging |
Het |
| Chfr |
A |
G |
5: 110,151,665 |
D308G |
probably benign |
Het |
| Cit |
T |
A |
5: 115,997,730 |
I1919N |
probably damaging |
Het |
| Ctsc |
T |
A |
7: 88,278,304 |
D34E |
possibly damaging |
Het |
| Diaph3 |
T |
A |
14: 87,091,158 |
|
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,067,469 |
I3220F |
probably damaging |
Het |
| Elmod3 |
A |
G |
6: 72,569,259 |
|
probably null |
Het |
| Fgd5 |
T |
C |
6: 92,066,184 |
V1215A |
possibly damaging |
Het |
| Filip1 |
T |
C |
9: 79,820,591 |
M249V |
probably damaging |
Het |
| Fmn1 |
C |
T |
2: 113,525,623 |
P803L |
unknown |
Het |
| Gcfc2 |
A |
G |
6: 81,944,420 |
K469R |
probably damaging |
Het |
| Gm12169 |
T |
C |
11: 46,535,588 |
I174T |
probably benign |
Het |
| Gm6803 |
C |
A |
12: 88,018,364 |
E136D |
probably benign |
Het |
| Gm8994 |
G |
A |
6: 136,328,780 |
A80T |
probably damaging |
Het |
| Itgad |
A |
G |
7: 128,190,939 |
T637A |
probably damaging |
Het |
| Kank2 |
T |
C |
9: 21,769,837 |
S799G |
probably damaging |
Het |
| Kcnc4 |
A |
T |
3: 107,448,204 |
D309E |
possibly damaging |
Het |
| Lamc2 |
G |
A |
1: 153,127,028 |
T1069M |
probably benign |
Het |
| Lepr |
T |
A |
4: 101,745,645 |
M210K |
possibly damaging |
Het |
| Lig3 |
T |
C |
11: 82,792,194 |
|
probably null |
Het |
| Oat |
G |
T |
7: 132,570,007 |
T33K |
probably benign |
Het |
| Olfr1356 |
T |
A |
10: 78,846,968 |
M316L |
probably benign |
Het |
| Olfr1368 |
T |
C |
13: 21,142,650 |
M136V |
probably damaging |
Het |
| Olfr32 |
A |
G |
2: 90,139,055 |
F28S |
probably damaging |
Het |
| Pcnx3 |
G |
T |
19: 5,672,515 |
A1383E |
probably damaging |
Het |
| Pctp |
T |
C |
11: 89,988,735 |
Y100C |
probably damaging |
Het |
| Pex6 |
G |
T |
17: 46,712,137 |
R213L |
probably benign |
Het |
| Phlpp2 |
T |
C |
8: 109,934,023 |
L770S |
possibly damaging |
Het |
| Pkn2 |
A |
T |
3: 142,853,538 |
D75E |
possibly damaging |
Het |
| Pla2g12b |
T |
C |
10: 59,421,553 |
|
probably null |
Het |
| Plch2 |
C |
T |
4: 154,984,450 |
V1135I |
probably damaging |
Het |
| Pskh1 |
T |
A |
8: 105,912,821 |
S44R |
probably benign |
Het |
| Ptpa |
G |
T |
2: 30,437,590 |
A119S |
probably benign |
Het |
| Slfn3 |
A |
G |
11: 83,212,715 |
I137M |
probably damaging |
Het |
| St6galnac1 |
A |
T |
11: 116,769,287 |
S67T |
probably benign |
Het |
| Treml1 |
A |
G |
17: 48,364,889 |
E137G |
probably damaging |
Het |
| Ubr2 |
A |
C |
17: 46,941,061 |
C1518G |
probably benign |
Het |
| Vmn2r55 |
A |
T |
7: 12,652,644 |
C470S |
probably damaging |
Het |
|
| Other mutations in Fam35a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00157:Fam35a
|
APN |
14 |
34,268,625 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL00962:Fam35a
|
APN |
14 |
34,249,251 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01288:Fam35a
|
APN |
14 |
34,259,643 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01302:Fam35a
|
APN |
14 |
34,259,727 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL01312:Fam35a
|
APN |
14 |
34,268,193 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
IGL01444:Fam35a
|
APN |
14 |
34,237,557 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01633:Fam35a
|
APN |
14 |
34,249,179 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02251:Fam35a
|
APN |
14 |
34,268,278 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL02927:Fam35a
|
APN |
14 |
34,267,701 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03183:Fam35a
|
APN |
14 |
34,245,186 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL03226:Fam35a
|
APN |
14 |
34,268,371 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0111:Fam35a
|
UTSW |
14 |
34,267,729 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1170:Fam35a
|
UTSW |
14 |
34,268,491 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1348:Fam35a
|
UTSW |
14 |
34,268,923 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1467:Fam35a
|
UTSW |
14 |
34,268,662 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1467:Fam35a
|
UTSW |
14 |
34,268,662 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1538:Fam35a
|
UTSW |
14 |
34,268,876 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1650:Fam35a
|
UTSW |
14 |
34,259,617 (GRCm38) |
intron |
probably benign |
|
|
R1777:Fam35a
|
UTSW |
14 |
34,268,173 (GRCm38) |
missense |
probably benign |
0.07 |
|
R1843:Fam35a
|
UTSW |
14 |
34,267,803 (GRCm38) |
missense |
probably benign |
0.01 |
|
R2425:Fam35a
|
UTSW |
14 |
34,268,689 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R3837:Fam35a
|
UTSW |
14 |
34,249,185 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3838:Fam35a
|
UTSW |
14 |
34,245,368 (GRCm38) |
missense |
probably benign |
0.01 |
|
R3904:Fam35a
|
UTSW |
14 |
34,259,709 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3964:Fam35a
|
UTSW |
14 |
34,259,687 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4322:Fam35a
|
UTSW |
14 |
34,259,675 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4708:Fam35a
|
UTSW |
14 |
34,267,833 (GRCm38) |
missense |
probably benign |
0.17 |
|
R4771:Fam35a
|
UTSW |
14 |
34,268,706 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4838:Fam35a
|
UTSW |
14 |
34,268,625 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5448:Fam35a
|
UTSW |
14 |
34,268,370 (GRCm38) |
missense |
probably benign |
0.32 |
|
R5874:Fam35a
|
UTSW |
14 |
34,245,258 (GRCm38) |
missense |
probably benign |
0.08 |
|
R6332:Fam35a
|
UTSW |
14 |
34,268,172 (GRCm38) |
missense |
probably benign |
0.07 |
|
R6333:Fam35a
|
UTSW |
14 |
34,267,608 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6476:Fam35a
|
UTSW |
14 |
34,268,014 (GRCm38) |
missense |
probably benign |
0.27 |
|
R6576:Fam35a
|
UTSW |
14 |
34,268,242 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7172:Fam35a
|
UTSW |
14 |
34,237,568 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7574:Fam35a
|
UTSW |
14 |
34,237,466 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7725:Fam35a
|
UTSW |
14 |
34,268,704 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R7755:Fam35a
|
UTSW |
14 |
34,248,890 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7840:Fam35a
|
UTSW |
14 |
34,237,566 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7881:Fam35a
|
UTSW |
14 |
34,267,767 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R7947:Fam35a
|
UTSW |
14 |
34,268,479 (GRCm38) |
missense |
probably benign |
0.27 |
|
R8192:Fam35a
|
UTSW |
14 |
34,245,216 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8443:Fam35a
|
UTSW |
14 |
34,267,985 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8492:Fam35a
|
UTSW |
14 |
34,245,232 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9323:Fam35a
|
UTSW |
14 |
34,259,639 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9524:Fam35a
|
UTSW |
14 |
34,249,288 (GRCm38) |
nonsense |
probably null |
|
|
X0009:Fam35a
|
UTSW |
14 |
34,245,186 (GRCm38) |
missense |
probably benign |
0.02 |
|
Z1177:Fam35a
|
UTSW |
14 |
34,268,598 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Fam35a
|
UTSW |
14 |
34,241,471 (GRCm38) |
missense |
probably benign |
0.31 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACATGCTACAGCAGGTCAGTCAC -3'
(R):5'- CCATCAGGTGTCCAAGAAGCCAAG -3'
Sequencing Primer
(F):5'- GTCAGTCACACCCAGGGAAG -3'
(R):5'- GCCAAGGATGGATTCTAATATAAGAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation