Incidental Mutation 'R9230:Fam135b'
| ID |
700194 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam135b
|
| Ensembl Gene |
ENSMUSG00000036800 |
| Gene Name |
family with sequence similarity 135, member B |
| Synonyms |
1700010C24Rik, A830008O07Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9230 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
71310800-71600282 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71335856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 446
(K446R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022953]
|
| AlphaFold |
Q9DAI6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022953
AA Change: K446R
PolyPhen 2
Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: K446R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3657
|
111 |
172 |
1.9e-19 |
PFAM |
|
low complexity region
|
744 |
757 |
N/A |
INTRINSIC |
|
low complexity region
|
1124 |
1130 |
N/A |
INTRINSIC |
|
Pfam:DUF676
|
1132 |
1328 |
2.7e-60 |
PFAM |
|
Pfam:PGAP1
|
1135 |
1309 |
3.2e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (68/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adarb1 |
A |
T |
10: 77,157,626 (GRCm39) |
F274I |
probably damaging |
Het |
| Aen |
T |
A |
7: 78,552,107 (GRCm39) |
D22E |
probably damaging |
Het |
| Appl1 |
T |
C |
14: 26,645,692 (GRCm39) |
E706G |
unknown |
Het |
| Arhgap21 |
T |
C |
2: 20,860,469 (GRCm39) |
T1313A |
possibly damaging |
Het |
| Armc2 |
T |
C |
10: 41,823,935 (GRCm39) |
Y511C |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,989,459 (GRCm39) |
T2098A |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,599,856 (GRCm39) |
Y1659C |
probably damaging |
Het |
| Catsperb |
T |
C |
12: 101,516,053 (GRCm39) |
I563T |
probably benign |
Het |
| Cblif |
G |
A |
19: 11,737,748 (GRCm39) |
W386* |
probably null |
Het |
| Cd180 |
TA |
TAA |
13: 102,841,514 (GRCm39) |
|
probably null |
Het |
| Cd55b |
A |
T |
1: 130,350,619 (GRCm39) |
L26* |
probably null |
Het |
| Cdc42bpa |
A |
G |
1: 179,933,638 (GRCm39) |
N759S |
probably benign |
Het |
| Chrm3 |
C |
A |
13: 9,928,479 (GRCm39) |
V186L |
probably benign |
Het |
| Clrn2 |
A |
G |
5: 45,621,283 (GRCm39) |
T226A |
probably damaging |
Het |
| Col3a1 |
C |
T |
1: 45,383,138 (GRCm39) |
P1071S |
unknown |
Het |
| Csgalnact2 |
A |
G |
6: 118,103,212 (GRCm39) |
L250P |
probably damaging |
Het |
| Cyp4a31 |
G |
T |
4: 115,428,281 (GRCm39) |
E326* |
probably null |
Het |
| Def8 |
A |
G |
8: 124,186,317 (GRCm39) |
E352G |
probably benign |
Het |
| Dmbt1 |
A |
G |
7: 130,639,642 (GRCm39) |
D60G |
probably benign |
Het |
| Dock3 |
A |
G |
9: 106,807,223 (GRCm39) |
L1368P |
probably damaging |
Het |
| Dytn |
A |
T |
1: 63,686,611 (GRCm39) |
V353D |
probably benign |
Het |
| Egfem1 |
G |
A |
3: 29,411,317 (GRCm39) |
E155K |
probably benign |
Het |
| Eif3m |
A |
T |
2: 104,831,705 (GRCm39) |
M285K |
probably damaging |
Het |
| Fbxo22 |
T |
C |
9: 55,116,442 (GRCm39) |
L36P |
probably damaging |
Het |
| Frmd4a |
T |
C |
2: 4,612,844 (GRCm39) |
S1025P |
possibly damaging |
Het |
| Gja8 |
C |
T |
3: 96,826,664 (GRCm39) |
V333M |
possibly damaging |
Het |
| Glis1 |
T |
C |
4: 107,425,327 (GRCm39) |
S313P |
probably benign |
Het |
| Grid2ip |
G |
A |
5: 143,359,194 (GRCm39) |
R270Q |
probably damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Hspa4 |
T |
C |
11: 53,171,466 (GRCm39) |
E246G |
probably benign |
Het |
| Ibtk |
A |
G |
9: 85,585,702 (GRCm39) |
|
probably null |
Het |
| Ifit1 |
A |
G |
19: 34,625,236 (GRCm39) |
E124G |
possibly damaging |
Het |
| Ifna14 |
T |
C |
4: 88,489,752 (GRCm39) |
D95G |
probably benign |
Het |
| Igsf10 |
G |
A |
3: 59,243,843 (GRCm39) |
R164W |
probably damaging |
Het |
| Ilkap |
A |
C |
1: 91,314,937 (GRCm39) |
I142S |
probably benign |
Het |
| Insyn2a |
A |
T |
7: 134,520,439 (GRCm39) |
Y30* |
probably null |
Het |
| Kctd14 |
C |
G |
7: 97,104,104 (GRCm39) |
P53R |
unknown |
Het |
| Kndc1 |
A |
T |
7: 139,500,600 (GRCm39) |
D655V |
probably damaging |
Het |
| Krt1c |
A |
C |
15: 101,725,948 (GRCm39) |
S197A |
probably benign |
Het |
| Lpin1 |
A |
T |
12: 16,588,483 (GRCm39) |
S902R |
unknown |
Het |
| Mapk13 |
T |
C |
17: 28,994,532 (GRCm39) |
I141T |
probably damaging |
Het |
| Micall2 |
A |
G |
5: 139,701,827 (GRCm39) |
V472A |
unknown |
Het |
| Mmp15 |
T |
C |
8: 96,092,959 (GRCm39) |
F113L |
probably benign |
Het |
| Msantd5f6 |
C |
T |
4: 73,319,685 (GRCm39) |
A264T |
probably benign |
Het |
| Msh2 |
T |
G |
17: 88,026,717 (GRCm39) |
S738A |
probably benign |
Het |
| Muc20 |
T |
G |
16: 32,613,584 (GRCm39) |
T598P |
probably damaging |
Het |
| Myo1f |
T |
C |
17: 33,795,424 (GRCm39) |
V53A |
probably damaging |
Het |
| Ncf1 |
A |
T |
5: 134,250,718 (GRCm39) |
N367K |
probably benign |
Het |
| Nme8 |
T |
G |
13: 19,874,384 (GRCm39) |
I139L |
probably benign |
Het |
| Odam |
T |
C |
5: 88,034,457 (GRCm39) |
F46L |
probably benign |
Het |
| Or51a25 |
C |
A |
7: 102,372,795 (GRCm39) |
V301F |
possibly damaging |
Het |
| Or7a42 |
G |
A |
10: 78,791,929 (GRCm39) |
D297N |
possibly damaging |
Het |
| Pcare |
A |
G |
17: 72,057,217 (GRCm39) |
L820P |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,099,788 (GRCm39) |
I1945T |
|
Het |
| Rbmyf9 |
T |
G |
Y: 3,774,819 (GRCm39) |
D5E |
probably damaging |
Het |
| Rell1 |
T |
C |
5: 64,097,105 (GRCm39) |
|
probably benign |
Het |
| Ripk3 |
A |
G |
14: 56,023,303 (GRCm39) |
F134S |
probably benign |
Het |
| Sclt1 |
A |
T |
3: 41,665,631 (GRCm39) |
W146R |
probably benign |
Het |
| Slc18a2 |
T |
C |
19: 59,261,647 (GRCm39) |
M178T |
probably benign |
Het |
| Slc24a5 |
G |
T |
2: 124,922,568 (GRCm39) |
G110V |
probably damaging |
Het |
| Slc38a10 |
T |
A |
11: 119,996,781 (GRCm39) |
D772V |
probably benign |
Het |
| Slc9c1 |
T |
C |
16: 45,398,275 (GRCm39) |
L680P |
possibly damaging |
Het |
| Tll2 |
T |
A |
19: 41,093,436 (GRCm39) |
Y477F |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tnrc18 |
G |
T |
5: 142,773,392 (GRCm39) |
A479D |
|
Het |
| Topaz1 |
T |
A |
9: 122,596,097 (GRCm39) |
M956K |
probably benign |
Het |
| Vmn2r56 |
T |
A |
7: 12,444,237 (GRCm39) |
D465V |
possibly damaging |
Het |
| Xndc1 |
T |
A |
7: 101,722,476 (GRCm39) |
V47E |
probably damaging |
Het |
|
| Other mutations in Fam135b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Fam135b
|
APN |
15 |
71,322,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00565:Fam135b
|
APN |
15 |
71,343,361 (GRCm39) |
missense |
probably benign |
|
|
IGL00645:Fam135b
|
APN |
15 |
71,334,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00686:Fam135b
|
APN |
15 |
71,334,168 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00857:Fam135b
|
APN |
15 |
71,335,465 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL01443:Fam135b
|
APN |
15 |
71,335,213 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01690:Fam135b
|
APN |
15 |
71,328,784 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL01920:Fam135b
|
APN |
15 |
71,493,885 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01987:Fam135b
|
APN |
15 |
71,333,964 (GRCm39) |
missense |
probably benign |
|
|
IGL02154:Fam135b
|
APN |
15 |
71,320,559 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL03107:Fam135b
|
APN |
15 |
71,335,410 (GRCm39) |
missense |
probably benign |
|
|
IGL03264:Fam135b
|
APN |
15 |
71,334,637 (GRCm39) |
missense |
probably benign |
|
|
IGL03055:Fam135b
|
UTSW |
15 |
71,493,883 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R0010:Fam135b
|
UTSW |
15 |
71,493,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0010:Fam135b
|
UTSW |
15 |
71,493,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0230:Fam135b
|
UTSW |
15 |
71,317,886 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0413:Fam135b
|
UTSW |
15 |
71,335,670 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0524:Fam135b
|
UTSW |
15 |
71,334,133 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0565:Fam135b
|
UTSW |
15 |
71,362,686 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0628:Fam135b
|
UTSW |
15 |
71,320,505 (GRCm39) |
splice site |
probably benign |
|
|
R1415:Fam135b
|
UTSW |
15 |
71,328,777 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1462:Fam135b
|
UTSW |
15 |
71,493,845 (GRCm39) |
splice site |
probably benign |
|
|
R1701:Fam135b
|
UTSW |
15 |
71,331,578 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1797:Fam135b
|
UTSW |
15 |
71,324,290 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1807:Fam135b
|
UTSW |
15 |
71,335,761 (GRCm39) |
missense |
probably benign |
|
|
R1835:Fam135b
|
UTSW |
15 |
71,362,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1905:Fam135b
|
UTSW |
15 |
71,404,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1937:Fam135b
|
UTSW |
15 |
71,493,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1998:Fam135b
|
UTSW |
15 |
71,324,253 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2076:Fam135b
|
UTSW |
15 |
71,350,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2518:Fam135b
|
UTSW |
15 |
71,335,760 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3110:Fam135b
|
UTSW |
15 |
71,335,879 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3112:Fam135b
|
UTSW |
15 |
71,335,879 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3932:Fam135b
|
UTSW |
15 |
71,322,280 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4361:Fam135b
|
UTSW |
15 |
71,362,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4397:Fam135b
|
UTSW |
15 |
71,320,525 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4435:Fam135b
|
UTSW |
15 |
71,320,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4645:Fam135b
|
UTSW |
15 |
71,334,189 (GRCm39) |
missense |
probably benign |
|
|
R4740:Fam135b
|
UTSW |
15 |
71,335,920 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4748:Fam135b
|
UTSW |
15 |
71,335,904 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4754:Fam135b
|
UTSW |
15 |
71,334,800 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5044:Fam135b
|
UTSW |
15 |
71,334,560 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5469:Fam135b
|
UTSW |
15 |
71,317,892 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5617:Fam135b
|
UTSW |
15 |
71,493,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5642:Fam135b
|
UTSW |
15 |
71,333,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5778:Fam135b
|
UTSW |
15 |
71,350,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5891:Fam135b
|
UTSW |
15 |
71,397,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5958:Fam135b
|
UTSW |
15 |
71,334,744 (GRCm39) |
missense |
|
|
|
R5982:Fam135b
|
UTSW |
15 |
71,320,518 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5987:Fam135b
|
UTSW |
15 |
71,362,697 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6535:Fam135b
|
UTSW |
15 |
71,493,924 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6734:Fam135b
|
UTSW |
15 |
71,334,629 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6887:Fam135b
|
UTSW |
15 |
71,335,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7028:Fam135b
|
UTSW |
15 |
71,343,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7035:Fam135b
|
UTSW |
15 |
71,334,102 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7097:Fam135b
|
UTSW |
15 |
71,493,917 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7143:Fam135b
|
UTSW |
15 |
71,351,000 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7414:Fam135b
|
UTSW |
15 |
71,350,105 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7439:Fam135b
|
UTSW |
15 |
71,335,529 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7441:Fam135b
|
UTSW |
15 |
71,335,529 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7545:Fam135b
|
UTSW |
15 |
71,322,359 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7615:Fam135b
|
UTSW |
15 |
71,335,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7642:Fam135b
|
UTSW |
15 |
71,350,991 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7649:Fam135b
|
UTSW |
15 |
71,334,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7686:Fam135b
|
UTSW |
15 |
71,335,233 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7866:Fam135b
|
UTSW |
15 |
71,333,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8006:Fam135b
|
UTSW |
15 |
71,334,183 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8068:Fam135b
|
UTSW |
15 |
71,404,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8167:Fam135b
|
UTSW |
15 |
71,404,840 (GRCm39) |
missense |
probably null |
1.00 |
|
R8252:Fam135b
|
UTSW |
15 |
71,404,872 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8548:Fam135b
|
UTSW |
15 |
71,334,659 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8833:Fam135b
|
UTSW |
15 |
71,334,783 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8955:Fam135b
|
UTSW |
15 |
71,334,063 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8961:Fam135b
|
UTSW |
15 |
71,404,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8987:Fam135b
|
UTSW |
15 |
71,334,189 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9149:Fam135b
|
UTSW |
15 |
71,334,744 (GRCm39) |
missense |
|
|
|
R9161:Fam135b
|
UTSW |
15 |
71,334,417 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9227:Fam135b
|
UTSW |
15 |
71,335,856 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9365:Fam135b
|
UTSW |
15 |
71,334,813 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9622:Fam135b
|
UTSW |
15 |
71,397,686 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9758:Fam135b
|
UTSW |
15 |
71,324,199 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9759:Fam135b
|
UTSW |
15 |
71,335,689 (GRCm39) |
missense |
probably benign |
0.44 |
|
T0722:Fam135b
|
UTSW |
15 |
71,335,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
T0975:Fam135b
|
UTSW |
15 |
71,335,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Fam135b
|
UTSW |
15 |
71,493,925 (GRCm39) |
start codon destroyed |
probably null |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTTTGAAATTCACCAATGGTCAGG -3'
(R):5'- GTCAAATCTGAAGGTCATTCCCC -3'
Sequencing Primer
(F):5'- GGTACACCTGAGATTCTGAGCAC -3'
(R):5'- AAGGTCATTCCCCTTCAAAAATAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation