Incidental Mutation 'R1797:Fam135b'
ID |
202414 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam135b
|
Ensembl Gene |
ENSMUSG00000036800 |
Gene Name |
family with sequence similarity 135, member B |
Synonyms |
1700010C24Rik, A830008O07Rik |
MMRRC Submission |
039827-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1797 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
71310800-71600282 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 71324290 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 1226
(T1226A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022953]
|
AlphaFold |
Q9DAI6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022953
AA Change: T1226A
PolyPhen 2
Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000022953 Gene: ENSMUSG00000036800 AA Change: T1226A
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229634
|
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
T |
C |
11: 72,089,285 (GRCm39) |
K200E |
possibly damaging |
Het |
Abcc2 |
A |
G |
19: 43,803,225 (GRCm39) |
E687G |
possibly damaging |
Het |
Abcc2 |
A |
T |
19: 43,822,426 (GRCm39) |
Q1421H |
probably damaging |
Het |
Abcg3 |
C |
T |
5: 105,087,030 (GRCm39) |
S534N |
possibly damaging |
Het |
Acp1 |
A |
G |
12: 30,946,113 (GRCm39) |
|
probably null |
Het |
Adam12 |
C |
A |
7: 133,569,590 (GRCm39) |
R295L |
probably benign |
Het |
Albfm1 |
A |
T |
5: 90,727,460 (GRCm39) |
E359D |
probably damaging |
Het |
Alg1 |
C |
A |
16: 5,057,007 (GRCm39) |
H213Q |
probably benign |
Het |
Ap4b1 |
T |
A |
3: 103,726,149 (GRCm39) |
W410R |
possibly damaging |
Het |
As3mt |
A |
G |
19: 46,713,373 (GRCm39) |
T307A |
possibly damaging |
Het |
Cdc14a |
T |
C |
3: 116,115,843 (GRCm39) |
I289V |
probably damaging |
Het |
Cdk17 |
A |
G |
10: 93,044,114 (GRCm39) |
I18V |
possibly damaging |
Het |
Cep131 |
C |
T |
11: 119,964,562 (GRCm39) |
|
probably null |
Het |
Clca3a2 |
A |
G |
3: 144,503,398 (GRCm39) |
Y851H |
probably benign |
Het |
Cnih2 |
T |
C |
19: 5,144,314 (GRCm39) |
K66E |
probably benign |
Het |
Cpsf3 |
T |
A |
12: 21,356,851 (GRCm39) |
N491K |
probably benign |
Het |
Cux1 |
C |
T |
5: 136,304,169 (GRCm39) |
E1253K |
probably benign |
Het |
Dcc |
A |
C |
18: 71,500,232 (GRCm39) |
L1005R |
probably damaging |
Het |
Ddx19b |
A |
T |
8: 111,739,439 (GRCm39) |
M200K |
probably damaging |
Het |
Ech1 |
A |
G |
7: 28,531,288 (GRCm39) |
Y292C |
probably damaging |
Het |
Edc4 |
G |
T |
8: 106,617,717 (GRCm39) |
A1121S |
probably benign |
Het |
Eml6 |
T |
A |
11: 29,832,041 (GRCm39) |
I210F |
probably benign |
Het |
Flg2 |
C |
T |
3: 93,108,283 (GRCm39) |
R104C |
probably damaging |
Het |
Frzb |
T |
C |
2: 80,276,872 (GRCm39) |
I105V |
possibly damaging |
Het |
Gli3 |
A |
G |
13: 15,888,097 (GRCm39) |
D504G |
probably damaging |
Het |
Gm42669 |
A |
T |
5: 107,655,683 (GRCm39) |
K1161* |
probably null |
Het |
Gm6665 |
T |
C |
18: 31,953,186 (GRCm39) |
E63G |
possibly damaging |
Het |
Gm9923 |
T |
C |
10: 72,145,593 (GRCm39) |
V148A |
probably benign |
Het |
Hoxc5 |
T |
C |
15: 102,922,866 (GRCm39) |
I118T |
probably benign |
Het |
Hsp90b1 |
A |
G |
10: 86,537,609 (GRCm39) |
V232A |
possibly damaging |
Het |
Impdh1 |
T |
A |
6: 29,207,168 (GRCm39) |
I59F |
probably damaging |
Het |
Iqch |
G |
A |
9: 63,495,659 (GRCm39) |
P111S |
possibly damaging |
Het |
Itih1 |
G |
T |
14: 30,651,856 (GRCm39) |
Q829K |
probably damaging |
Het |
Kcnh2 |
C |
T |
5: 24,527,670 (GRCm39) |
R894H |
probably damaging |
Het |
Kmt5b |
G |
T |
19: 3,864,833 (GRCm39) |
E632D |
probably benign |
Het |
L2hgdh |
C |
T |
12: 69,746,340 (GRCm39) |
M373I |
probably benign |
Het |
Map3k4 |
C |
T |
17: 12,482,906 (GRCm39) |
E604K |
probably benign |
Het |
Mok |
T |
A |
12: 110,774,479 (GRCm39) |
Y420F |
probably benign |
Het |
Nedd1 |
G |
A |
10: 92,534,601 (GRCm39) |
T303I |
possibly damaging |
Het |
Nipal4 |
T |
A |
11: 46,042,160 (GRCm39) |
M174L |
probably benign |
Het |
Or6c213 |
A |
C |
10: 129,574,578 (GRCm39) |
I69M |
probably benign |
Het |
Pag1 |
T |
A |
3: 9,758,946 (GRCm39) |
T391S |
probably benign |
Het |
Palm3 |
A |
G |
8: 84,755,432 (GRCm39) |
R315G |
probably benign |
Het |
Patj |
C |
T |
4: 98,575,675 (GRCm39) |
R1177W |
probably damaging |
Het |
Pbld2 |
G |
A |
10: 62,910,903 (GRCm39) |
|
probably null |
Het |
Phldb1 |
A |
T |
9: 44,627,842 (GRCm39) |
M81K |
probably damaging |
Het |
Pkn2 |
A |
G |
3: 142,515,289 (GRCm39) |
F682L |
probably damaging |
Het |
Plce1 |
T |
C |
19: 38,747,392 (GRCm39) |
|
probably null |
Het |
Plekha8 |
T |
A |
6: 54,617,959 (GRCm39) |
V518E |
probably damaging |
Het |
Ppp1r3a |
T |
A |
6: 14,717,981 (GRCm39) |
M978L |
probably benign |
Het |
Ppp4r4 |
T |
A |
12: 103,564,410 (GRCm39) |
C592S |
possibly damaging |
Het |
Prdx6b |
T |
A |
2: 80,123,546 (GRCm39) |
D118E |
possibly damaging |
Het |
Ptprg |
T |
C |
14: 12,199,743 (GRCm38) |
V52A |
probably damaging |
Het |
Rab27b |
A |
G |
18: 70,122,617 (GRCm39) |
M114T |
probably damaging |
Het |
Ralgps1 |
A |
G |
2: 33,230,723 (GRCm39) |
|
probably null |
Het |
Rasa3 |
G |
A |
8: 13,632,372 (GRCm39) |
P506L |
probably benign |
Het |
Rps6kb1 |
G |
A |
11: 86,393,634 (GRCm39) |
R499* |
probably null |
Het |
S1pr4 |
A |
G |
10: 81,335,024 (GRCm39) |
M150T |
probably damaging |
Het |
Scube2 |
T |
C |
7: 109,430,882 (GRCm39) |
D439G |
probably damaging |
Het |
Serpina1e |
T |
C |
12: 103,917,150 (GRCm39) |
K173R |
probably benign |
Het |
Serpina3m |
T |
A |
12: 104,355,774 (GRCm39) |
I147N |
probably damaging |
Het |
Sh3rf3 |
G |
T |
10: 58,922,489 (GRCm39) |
G522* |
probably null |
Het |
Smad1 |
A |
T |
8: 80,070,473 (GRCm39) |
V355E |
probably damaging |
Het |
Srsf11 |
A |
G |
3: 157,725,065 (GRCm39) |
V211A |
possibly damaging |
Het |
Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
Stt3a |
C |
T |
9: 36,654,711 (GRCm39) |
|
probably null |
Het |
Syne2 |
T |
C |
12: 76,010,557 (GRCm39) |
V2488A |
probably benign |
Het |
Tbc1d23 |
T |
C |
16: 56,993,463 (GRCm39) |
T568A |
possibly damaging |
Het |
Tnn |
A |
C |
1: 159,968,258 (GRCm39) |
V378G |
probably damaging |
Het |
Trim50 |
T |
C |
5: 135,382,355 (GRCm39) |
V69A |
possibly damaging |
Het |
Ttll10 |
A |
T |
4: 156,132,024 (GRCm39) |
D19E |
probably damaging |
Het |
Ushbp1 |
G |
A |
8: 71,841,567 (GRCm39) |
R421C |
probably damaging |
Het |
Vmn2r2 |
T |
C |
3: 64,042,128 (GRCm39) |
T196A |
probably benign |
Het |
Wdr64 |
G |
A |
1: 175,639,585 (GRCm39) |
S1028N |
probably damaging |
Het |
Wwtr1 |
T |
C |
3: 57,369,996 (GRCm39) |
Y373C |
probably damaging |
Het |
Zeb1 |
A |
T |
18: 5,766,298 (GRCm39) |
K216* |
probably null |
Het |
Zfp39 |
T |
C |
11: 58,791,486 (GRCm39) |
D67G |
probably damaging |
Het |
Zfp40 |
A |
G |
17: 23,394,514 (GRCm39) |
I691T |
possibly damaging |
Het |
Zfp532 |
T |
C |
18: 65,758,215 (GRCm39) |
V716A |
probably benign |
Het |
Zfp616 |
T |
A |
11: 73,976,105 (GRCm39) |
C791* |
probably null |
Het |
Zfp932 |
G |
A |
5: 110,144,489 (GRCm39) |
|
probably benign |
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 |
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 |
R9230: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'- AGCTCTAAGTTCCTGATGCC -3'
(R):5'- ACTGACATAGAGCTCCCATTCC -3'
Sequencing Primer
(F):5'- CCTGATGCCTCTGATAAATTTTGGAG -3'
(R):5'- CCATAGTCCTCATGTATTGTGCTAGG -3'
|
Posted On |
2014-06-23 |