Incidental Mutation 'R9365:Fam135b'
ID |
708927 |
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 # |
R9365 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
71310800-71600282 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 71334813 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 794
(S794P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022953]
|
AlphaFold |
Q9DAI6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022953
AA Change: S794P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000022953 Gene: ENSMUSG00000036800 AA Change: S794P
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (60/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
Ahi1 |
G |
A |
10: 20,848,035 (GRCm39) |
R481Q |
probably damaging |
Het |
Arhgef3 |
T |
C |
14: 27,101,555 (GRCm39) |
I77T |
probably damaging |
Het |
Ash1l |
T |
A |
3: 88,889,207 (GRCm39) |
V362E |
possibly damaging |
Het |
Bcat2 |
T |
A |
7: 45,225,294 (GRCm39) |
F57L |
probably damaging |
Het |
Ccdc73 |
C |
T |
2: 104,738,011 (GRCm39) |
L36F |
probably damaging |
Het |
Ccl19 |
C |
T |
4: 42,756,288 (GRCm39) |
V15I |
probably benign |
Het |
Cenpe |
T |
A |
3: 134,954,207 (GRCm39) |
V1688E |
possibly damaging |
Het |
Ces1a |
A |
T |
8: 93,774,727 (GRCm39) |
F4I |
probably benign |
Het |
Chchd6 |
G |
A |
6: 89,551,413 (GRCm39) |
P83S |
probably benign |
Het |
Cnr1 |
T |
C |
4: 33,943,798 (GRCm39) |
M62T |
probably benign |
Het |
Colec12 |
T |
C |
18: 9,848,146 (GRCm39) |
L108P |
probably damaging |
Het |
Cyb5a |
T |
C |
18: 84,894,979 (GRCm39) |
|
probably benign |
Het |
Dhrs4 |
C |
T |
14: 55,724,776 (GRCm39) |
T181I |
probably benign |
Het |
Disc1 |
T |
C |
8: 125,851,285 (GRCm39) |
S392P |
probably benign |
Het |
Dnah3 |
A |
G |
7: 119,566,859 (GRCm39) |
F69L |
|
Het |
Ehmt1 |
T |
C |
2: 24,728,722 (GRCm39) |
D726G |
probably damaging |
Het |
Epg5 |
T |
A |
18: 77,997,957 (GRCm39) |
L462I |
probably damaging |
Het |
Exoc2 |
A |
T |
13: 31,040,697 (GRCm39) |
S774T |
probably benign |
Het |
Frmd4a |
T |
C |
2: 4,606,973 (GRCm39) |
V646A |
probably benign |
Het |
Gm3543 |
G |
T |
14: 41,804,093 (GRCm39) |
D57E |
possibly damaging |
Het |
Golgb1 |
T |
A |
16: 36,736,124 (GRCm39) |
D1831E |
probably damaging |
Het |
Hace1 |
T |
G |
10: 45,586,092 (GRCm39) |
|
probably null |
Het |
Irgc |
T |
C |
7: 24,131,872 (GRCm39) |
E315G |
possibly damaging |
Het |
Ism1 |
A |
G |
2: 139,582,321 (GRCm39) |
Y211C |
probably damaging |
Het |
Kpna1 |
T |
G |
16: 35,833,287 (GRCm39) |
V121G |
probably damaging |
Het |
Lifr |
T |
A |
15: 7,198,521 (GRCm39) |
F250L |
probably damaging |
Het |
Llgl2 |
A |
G |
11: 115,740,407 (GRCm39) |
T368A |
probably benign |
Het |
Lmln |
T |
A |
16: 32,925,169 (GRCm39) |
C467* |
probably null |
Het |
Lrrtm3 |
T |
C |
10: 63,923,943 (GRCm39) |
E408G |
probably benign |
Het |
Melk |
C |
T |
4: 44,340,693 (GRCm39) |
A330V |
probably null |
Het |
Mmp13 |
T |
G |
9: 7,277,921 (GRCm39) |
D271E |
probably benign |
Het |
Myh11 |
T |
C |
16: 14,052,297 (GRCm39) |
T390A |
|
Het |
Myh8 |
A |
G |
11: 67,174,632 (GRCm39) |
K249R |
probably benign |
Het |
Nr1h4 |
T |
A |
10: 89,319,315 (GRCm39) |
M184L |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,885,337 (GRCm39) |
|
probably null |
Het |
Otog |
T |
G |
7: 45,920,688 (GRCm39) |
C964G |
probably damaging |
Het |
Oxct2b |
T |
C |
4: 123,010,589 (GRCm39) |
S170P |
probably benign |
Het |
Pcdha4 |
T |
C |
18: 37,087,112 (GRCm39) |
S432P |
possibly damaging |
Het |
Prb1a |
T |
A |
6: 132,184,201 (GRCm39) |
R477S |
unknown |
Het |
Prh1 |
G |
A |
6: 132,549,108 (GRCm39) |
G205D |
unknown |
Het |
Psg23 |
C |
T |
7: 18,344,393 (GRCm39) |
G354D |
probably damaging |
Het |
Pura |
T |
G |
18: 36,420,913 (GRCm39) |
D233E |
possibly damaging |
Het |
Rb1cc1 |
G |
T |
1: 6,315,117 (GRCm39) |
L423F |
probably damaging |
Het |
Rimbp3 |
T |
C |
16: 17,026,620 (GRCm39) |
S15P |
possibly damaging |
Het |
Scn1a |
A |
G |
2: 66,148,465 (GRCm39) |
F7L |
probably benign |
Het |
Sftpb |
A |
T |
6: 72,284,189 (GRCm39) |
R203* |
probably null |
Het |
Slc30a9 |
A |
G |
5: 67,507,142 (GRCm39) |
K478R |
probably damaging |
Het |
Slc35f5 |
T |
A |
1: 125,496,333 (GRCm39) |
M156K |
probably benign |
Het |
Slc41a3 |
A |
G |
6: 90,612,327 (GRCm39) |
I232V |
probably benign |
Het |
Slit2 |
A |
G |
5: 48,461,534 (GRCm39) |
D1527G |
probably benign |
Het |
Srfbp1 |
T |
G |
18: 52,623,540 (GRCm39) |
V389G |
possibly damaging |
Het |
Sun2 |
C |
T |
15: 79,622,720 (GRCm39) |
|
probably null |
Het |
Tep1 |
G |
T |
14: 51,064,597 (GRCm39) |
A2386D |
probably damaging |
Het |
Tex15 |
T |
A |
8: 34,064,564 (GRCm39) |
S1331R |
possibly damaging |
Het |
Tgm1 |
A |
T |
14: 55,942,349 (GRCm39) |
N667K |
probably damaging |
Het |
Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
Tsen54 |
T |
C |
11: 115,713,410 (GRCm39) |
F438L |
probably damaging |
Het |
Ube4a |
T |
C |
9: 44,862,191 (GRCm39) |
H150R |
probably benign |
Het |
Uty |
T |
C |
Y: 1,099,712 (GRCm39) |
N1161S |
possibly damaging |
Het |
Vmn2r16 |
T |
A |
5: 109,488,064 (GRCm39) |
D312E |
probably damaging |
Het |
Wdr55 |
T |
G |
18: 36,893,354 (GRCm39) |
C5W |
probably damaging |
Het |
Zbtb24 |
C |
A |
10: 41,332,540 (GRCm39) |
P405Q |
probably damaging |
Het |
Zkscan2 |
T |
A |
7: 123,079,591 (GRCm39) |
I789F |
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 |
R9230:Fam135b
|
UTSW |
15 |
71,335,856 (GRCm39) |
missense |
probably benign |
0.28 |
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'- AACATGTAGTGGGGTCTCAGC -3'
(R):5'- CAGTGGCATTCAGGCTTCTC -3'
Sequencing Primer
(F):5'- TCCAGACAACAGGGTTCTTG -3'
(R):5'- GTGGCATTCAGGCTTCTCTTTCC -3'
|
Posted On |
2022-04-18 |