Incidental Mutation 'R5044:Fam135b'
ID |
394276 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam135b
|
Ensembl Gene |
ENSMUSG00000036800 |
Gene Name |
family with sequence similarity 135, member B |
Synonyms |
1700010C24Rik, A830008O07Rik |
MMRRC Submission |
042634-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5044 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
71310800-71600282 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 71334560 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 878
(N878S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022953]
|
AlphaFold |
Q9DAI6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022953
AA Change: N878S
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000022953 Gene: ENSMUSG00000036800 AA Change: N878S
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
|
Meta Mutation Damage Score |
0.0721 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
96% (73/76) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
A |
11: 9,323,323 (GRCm39) |
F3387I |
possibly damaging |
Het |
Acacb |
T |
A |
5: 114,304,088 (GRCm39) |
S170R |
probably benign |
Het |
Adamtsl4 |
A |
G |
3: 95,588,960 (GRCm39) |
|
probably null |
Het |
Adgrv1 |
A |
G |
13: 81,637,050 (GRCm39) |
C3464R |
probably benign |
Het |
Apbb1 |
A |
T |
7: 105,214,889 (GRCm39) |
|
probably benign |
Het |
Cad |
A |
G |
5: 31,212,365 (GRCm39) |
T23A |
probably benign |
Het |
Cdca7 |
A |
G |
2: 72,313,759 (GRCm39) |
R183G |
probably benign |
Het |
Cdpf1 |
T |
C |
15: 85,693,513 (GRCm39) |
T5A |
probably benign |
Het |
Cep85 |
T |
C |
4: 133,883,490 (GRCm39) |
D133G |
probably damaging |
Het |
Chrna9 |
T |
C |
5: 66,128,359 (GRCm39) |
L189P |
probably damaging |
Het |
Clca3a1 |
A |
C |
3: 144,713,689 (GRCm39) |
|
probably null |
Het |
Cntn1 |
G |
T |
15: 92,140,876 (GRCm39) |
V201F |
probably damaging |
Het |
Col4a3 |
A |
G |
1: 82,644,267 (GRCm39) |
E352G |
unknown |
Het |
Ddhd2 |
T |
C |
8: 26,242,164 (GRCm39) |
Y237C |
probably damaging |
Het |
Dnah6 |
A |
C |
6: 73,014,605 (GRCm39) |
F3609V |
probably benign |
Het |
Epha3 |
T |
C |
16: 63,422,650 (GRCm39) |
K580R |
possibly damaging |
Het |
Fbn1 |
T |
G |
2: 125,171,022 (GRCm39) |
T1938P |
probably damaging |
Het |
Foxg1 |
T |
C |
12: 49,431,969 (GRCm39) |
V234A |
probably damaging |
Het |
Garin5b |
T |
C |
7: 4,761,660 (GRCm39) |
N351D |
probably benign |
Het |
Glt1d1 |
A |
T |
5: 127,721,478 (GRCm39) |
N55I |
probably benign |
Het |
Gm17641 |
C |
A |
3: 68,776,807 (GRCm39) |
|
probably benign |
Het |
Gm7665 |
A |
G |
18: 16,407,788 (GRCm39) |
|
noncoding transcript |
Het |
Hgf |
A |
C |
5: 16,819,892 (GRCm39) |
N541T |
probably benign |
Het |
Hipk2 |
G |
A |
6: 38,795,814 (GRCm39) |
P152S |
probably benign |
Het |
Jarid2 |
C |
T |
13: 45,060,041 (GRCm39) |
L720F |
probably damaging |
Het |
Kifc5b |
A |
G |
17: 27,143,761 (GRCm39) |
E511G |
probably damaging |
Het |
Ldlr |
G |
A |
9: 21,646,538 (GRCm39) |
A235T |
probably benign |
Het |
Lmln |
A |
G |
16: 32,894,550 (GRCm39) |
D231G |
possibly damaging |
Het |
Lrp1 |
A |
G |
10: 127,403,364 (GRCm39) |
C2070R |
probably damaging |
Het |
Mbl1 |
A |
G |
14: 40,880,681 (GRCm39) |
T190A |
possibly damaging |
Het |
Mpdz |
A |
T |
4: 81,299,934 (GRCm39) |
S355T |
probably benign |
Het |
Muc19 |
C |
T |
15: 91,772,332 (GRCm39) |
|
noncoding transcript |
Het |
Mycbp2 |
A |
C |
14: 103,376,671 (GRCm39) |
|
probably null |
Het |
Naa20 |
T |
C |
2: 145,757,762 (GRCm39) |
S164P |
probably damaging |
Het |
Nme4 |
A |
T |
17: 26,312,807 (GRCm39) |
|
probably benign |
Het |
Npas2 |
A |
T |
1: 39,386,587 (GRCm39) |
R619* |
probably null |
Het |
Nudt19 |
G |
A |
7: 35,255,171 (GRCm39) |
T20I |
possibly damaging |
Het |
Or4c119 |
T |
A |
2: 88,987,283 (GRCm39) |
K79* |
probably null |
Het |
Or5b97 |
A |
G |
19: 12,878,365 (GRCm39) |
Y260H |
probably damaging |
Het |
Pitpnc1 |
A |
G |
11: 107,187,054 (GRCm39) |
Y90H |
possibly damaging |
Het |
Rcor2 |
A |
G |
19: 7,247,150 (GRCm39) |
T6A |
probably benign |
Het |
Rif1 |
T |
A |
2: 51,999,940 (GRCm39) |
S1131R |
probably damaging |
Het |
Rtkn |
T |
A |
6: 83,127,972 (GRCm39) |
D377E |
probably benign |
Het |
Rtn4rl2 |
T |
A |
2: 84,702,846 (GRCm39) |
N242I |
probably damaging |
Het |
Sbno2 |
G |
A |
10: 79,898,022 (GRCm39) |
L719F |
probably benign |
Het |
Scn11a |
G |
T |
9: 119,648,897 (GRCm39) |
D55E |
probably damaging |
Het |
Setd1b |
T |
A |
5: 123,289,929 (GRCm39) |
I632N |
unknown |
Het |
Spaca6 |
A |
G |
17: 18,051,458 (GRCm39) |
T45A |
probably benign |
Het |
Srpk2 |
A |
T |
5: 23,729,390 (GRCm39) |
D416E |
possibly damaging |
Het |
Sspo |
A |
T |
6: 48,443,889 (GRCm39) |
|
probably null |
Het |
Sycp1 |
A |
T |
3: 102,752,370 (GRCm39) |
I804N |
probably benign |
Het |
Tdp2 |
G |
A |
13: 25,015,809 (GRCm39) |
R32Q |
probably benign |
Het |
Tgfbr3 |
A |
G |
5: 107,284,795 (GRCm39) |
V618A |
possibly damaging |
Het |
Tmc3 |
C |
T |
7: 83,258,326 (GRCm39) |
P439S |
probably benign |
Het |
Tnxb |
A |
T |
17: 34,936,457 (GRCm39) |
D2740V |
probably damaging |
Het |
Tspyl4 |
A |
G |
10: 34,173,933 (GRCm39) |
T142A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,710,785 (GRCm39) |
|
probably benign |
Het |
Tubgcp4 |
T |
C |
2: 121,004,061 (GRCm39) |
L34P |
probably damaging |
Het |
Tubgcp6 |
G |
T |
15: 88,983,748 (GRCm39) |
|
probably benign |
Het |
Unc79 |
T |
A |
12: 103,078,962 (GRCm39) |
V1690E |
probably benign |
Het |
Vps4b |
T |
C |
1: 106,724,148 (GRCm39) |
|
probably null |
Het |
Wtap |
A |
G |
17: 13,186,525 (GRCm39) |
S341P |
possibly damaging |
Het |
Wwc1 |
T |
C |
11: 35,774,172 (GRCm39) |
T363A |
probably benign |
Het |
Zbtb8a |
G |
A |
4: 129,254,293 (GRCm39) |
T67M |
probably damaging |
Het |
Zfp865 |
T |
C |
7: 5,037,668 (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 |
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 |
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'- TTCATGTTTGGCCTCCAGAG -3'
(R):5'- TAGGGCAGGACATTCCCTTG -3'
Sequencing Primer
(F):5'- CCTGTAGAATTCAGGTTGACAGC -3'
(R):5'- GCAGGACATTCCCTTGCAGATATAG -3'
|
Posted On |
2016-06-15 |