Incidental Mutation 'R5958:Fam135b'
ID |
471311 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam135b
|
Ensembl Gene |
ENSMUSG00000036800 |
Gene Name |
family with sequence similarity 135, member B |
Synonyms |
1700010C24Rik, A830008O07Rik |
MMRRC Submission |
044145-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5958 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
71310800-71600282 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 71334744 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 817
(S817P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022953]
|
AlphaFold |
Q9DAI6 |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000022953 Gene: ENSMUSG00000036800 AA Change: S817P
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 |
0.0725 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.0%
|
Validation Efficiency |
95% (75/79) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
T |
C |
19: 57,030,367 (GRCm39) |
D616G |
probably damaging |
Het |
Adam30 |
A |
G |
3: 98,069,280 (GRCm39) |
N243S |
probably damaging |
Het |
Adck1 |
A |
G |
12: 88,425,822 (GRCm39) |
I417V |
probably benign |
Het |
Adcy4 |
T |
C |
14: 56,016,556 (GRCm39) |
|
probably null |
Het |
Ahctf1 |
A |
G |
1: 179,574,107 (GRCm39) |
|
probably benign |
Het |
Ap1s3 |
G |
T |
1: 79,591,960 (GRCm39) |
T130K |
probably benign |
Het |
Apold1 |
C |
T |
6: 134,960,686 (GRCm39) |
R47C |
probably damaging |
Het |
Atp13a5 |
T |
C |
16: 29,157,860 (GRCm39) |
K197E |
probably damaging |
Het |
Camk2d |
T |
G |
3: 126,573,514 (GRCm39) |
|
probably benign |
Het |
Ccin |
A |
G |
4: 43,983,854 (GRCm39) |
D87G |
probably damaging |
Het |
Cdan1 |
T |
C |
2: 120,554,383 (GRCm39) |
T889A |
possibly damaging |
Het |
Cel |
T |
A |
2: 28,450,957 (GRCm39) |
Y102F |
probably damaging |
Het |
Cma1 |
A |
C |
14: 56,179,113 (GRCm39) |
*248E |
probably null |
Het |
Cnbd1 |
T |
C |
4: 18,862,056 (GRCm39) |
N378S |
probably benign |
Het |
Col18a1 |
T |
A |
10: 76,932,231 (GRCm39) |
Y533F |
probably benign |
Het |
Cpb2 |
T |
C |
14: 75,520,827 (GRCm39) |
I414T |
probably damaging |
Het |
Dagla |
T |
C |
19: 10,225,788 (GRCm39) |
Y792C |
probably damaging |
Het |
Dlgap5 |
T |
A |
14: 47,651,211 (GRCm39) |
E107D |
probably damaging |
Het |
Dmtf1 |
T |
A |
5: 9,172,415 (GRCm39) |
|
probably benign |
Het |
Dst |
A |
G |
1: 34,225,131 (GRCm39) |
K1682R |
probably damaging |
Het |
Epyc |
A |
T |
10: 97,485,704 (GRCm39) |
H48L |
probably benign |
Het |
Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
Foxk1 |
T |
C |
5: 142,442,429 (GRCm39) |
V693A |
probably benign |
Het |
Fuom |
A |
T |
7: 139,679,811 (GRCm39) |
F122I |
probably damaging |
Het |
Glg1 |
G |
T |
8: 111,985,736 (GRCm39) |
H31Q |
probably benign |
Het |
Gm13199 |
C |
T |
2: 5,867,065 (GRCm39) |
|
probably benign |
Het |
Hdac9 |
G |
T |
12: 34,423,882 (GRCm39) |
Q595K |
probably damaging |
Het |
Homez |
C |
T |
14: 55,094,298 (GRCm39) |
R119Q |
probably benign |
Het |
Ifit3b |
A |
G |
19: 34,589,142 (GRCm39) |
H106R |
probably benign |
Het |
Ift57 |
C |
T |
16: 49,531,471 (GRCm39) |
|
probably benign |
Het |
Itk |
A |
T |
11: 46,235,682 (GRCm39) |
|
probably benign |
Het |
Katnip |
A |
G |
7: 125,412,807 (GRCm39) |
K358E |
probably benign |
Het |
Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
Klhdc3 |
A |
T |
17: 46,986,028 (GRCm39) |
V378D |
probably benign |
Het |
Klhl14 |
A |
G |
18: 21,698,592 (GRCm39) |
I407T |
probably damaging |
Het |
Meioc |
A |
T |
11: 102,565,979 (GRCm39) |
T476S |
probably benign |
Het |
Olfm3 |
G |
A |
3: 114,915,955 (GRCm39) |
V276I |
probably damaging |
Het |
Or5b24 |
T |
C |
19: 12,912,411 (GRCm39) |
F103S |
probably damaging |
Het |
Pcm1 |
T |
C |
8: 41,782,016 (GRCm39) |
L1972P |
probably damaging |
Het |
Pcsk6 |
A |
G |
7: 65,693,359 (GRCm39) |
E3G |
probably damaging |
Het |
Pctp |
A |
G |
11: 89,876,945 (GRCm39) |
S185P |
probably benign |
Het |
Pik3c2a |
A |
G |
7: 115,961,799 (GRCm39) |
L1010S |
probably damaging |
Het |
Pitpnm3 |
G |
T |
11: 72,003,193 (GRCm39) |
|
probably null |
Het |
Prrc2b |
A |
G |
2: 32,102,092 (GRCm39) |
M722V |
possibly damaging |
Het |
Rad18 |
T |
C |
6: 112,673,603 (GRCm39) |
|
probably benign |
Het |
Senp6 |
T |
C |
9: 80,049,576 (GRCm39) |
S1036P |
probably damaging |
Het |
Slc22a22 |
C |
T |
15: 57,126,932 (GRCm39) |
A46T |
possibly damaging |
Het |
Sox15 |
C |
T |
11: 69,546,556 (GRCm39) |
R120C |
probably damaging |
Het |
Spag6l |
C |
A |
16: 16,580,885 (GRCm39) |
|
probably null |
Het |
Strc |
T |
C |
2: 121,207,403 (GRCm39) |
H656R |
possibly damaging |
Het |
Tanc2 |
A |
G |
11: 105,731,451 (GRCm39) |
D409G |
probably benign |
Het |
Thap11 |
A |
G |
8: 106,582,696 (GRCm39) |
H235R |
probably damaging |
Het |
Thsd7a |
T |
A |
6: 12,337,261 (GRCm39) |
Y1252F |
probably benign |
Het |
Tlr11 |
T |
G |
14: 50,598,234 (GRCm39) |
N73K |
probably damaging |
Het |
Ttll10 |
T |
C |
4: 156,120,523 (GRCm39) |
|
probably null |
Het |
Ubr4 |
A |
T |
4: 139,182,949 (GRCm39) |
N445I |
probably damaging |
Het |
Ugt1a6a |
C |
T |
1: 88,143,510 (GRCm39) |
|
probably benign |
Het |
Urb2 |
T |
C |
8: 124,756,398 (GRCm39) |
F702L |
probably benign |
Het |
Utp14b |
A |
T |
1: 78,642,659 (GRCm39) |
K186* |
probably null |
Het |
Utp14b |
A |
T |
1: 78,642,660 (GRCm39) |
K186M |
probably damaging |
Het |
Vmn2r16 |
T |
A |
5: 109,510,153 (GRCm39) |
M512K |
possibly damaging |
Het |
Vmn2r27 |
T |
A |
6: 124,208,686 (GRCm39) |
M20L |
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 |
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 |
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'- CAACATGTAGTGGGGTCTCAGC -3'
(R):5'- AGTGGCATTCAGGCTTCTC -3'
Sequencing Primer
(F):5'- TAGTGGGGTCTCAGCCATGC -3'
(R):5'- CTCATTGCCTTTTGAAGAGGAAGAGC -3'
|
Posted On |
2017-03-31 |