Incidental Mutation 'R8252:Fam135b'
| ID |
640205 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam135b
|
| Ensembl Gene |
ENSMUSG00000036800 |
| Gene Name |
family with sequence similarity 135, member B |
| Synonyms |
1700010C24Rik, A830008O07Rik |
| MMRRC Submission |
067678-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8252 (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 A
at 71404872 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 58
(H58L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022953]
|
| AlphaFold |
Q9DAI6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022953
AA Change: H58L
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: H58L
| 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 |
0.0804 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (60/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi1 |
T |
C |
2: 22,861,284 (GRCm39) |
|
probably benign |
Het |
| Ano4 |
A |
G |
10: 88,816,881 (GRCm39) |
I644T |
probably damaging |
Het |
| Arhgap18 |
T |
A |
10: 26,730,932 (GRCm39) |
D203E |
probably benign |
Het |
| Ascc3 |
T |
A |
10: 50,518,706 (GRCm39) |
M337K |
probably benign |
Het |
| Atg13 |
G |
C |
2: 91,510,699 (GRCm39) |
P343A |
probably benign |
Het |
| Cacna1c |
C |
T |
6: 118,634,335 (GRCm39) |
V1058I |
|
Het |
| Cd180 |
A |
G |
13: 102,842,504 (GRCm39) |
T517A |
probably benign |
Het |
| Cd1d2 |
A |
C |
3: 86,894,375 (GRCm39) |
I48L |
probably benign |
Het |
| Cdh19 |
C |
T |
1: 110,817,615 (GRCm39) |
C709Y |
probably benign |
Het |
| Chst10 |
T |
C |
1: 38,923,433 (GRCm39) |
D51G |
probably benign |
Het |
| Clec2g |
G |
A |
6: 128,958,335 (GRCm39) |
E184K |
probably benign |
Het |
| Col19a1 |
T |
A |
1: 24,319,048 (GRCm39) |
H1014L |
probably benign |
Het |
| Fam171b |
A |
G |
2: 83,708,586 (GRCm39) |
I363V |
probably benign |
Het |
| Hecw1 |
C |
A |
13: 14,515,425 (GRCm39) |
G236W |
probably damaging |
Het |
| Htra3 |
A |
G |
5: 35,810,305 (GRCm39) |
M459T |
probably benign |
Het |
| Iglc2 |
A |
T |
16: 19,017,520 (GRCm39) |
C27* |
probably null |
Het |
| Il36b |
A |
T |
2: 24,048,825 (GRCm39) |
T77S |
possibly damaging |
Het |
| Kif1b |
A |
T |
4: 149,358,262 (GRCm39) |
N135K |
probably damaging |
Het |
| Krt5 |
A |
T |
15: 101,620,794 (GRCm39) |
I151N |
probably damaging |
Het |
| Lama4 |
A |
T |
10: 38,936,142 (GRCm39) |
M606L |
probably benign |
Het |
| Lgr6 |
T |
A |
1: 134,931,215 (GRCm39) |
S280C |
probably null |
Het |
| Msh3 |
T |
A |
13: 92,357,569 (GRCm39) |
T967S |
probably damaging |
Het |
| Ndufb4 |
T |
C |
16: 37,474,637 (GRCm39) |
T29A |
probably benign |
Het |
| Nfe2l1 |
T |
C |
11: 96,710,058 (GRCm39) |
M724V |
probably benign |
Het |
| Nudt12 |
T |
C |
17: 59,318,089 (GRCm39) |
Y52C |
probably damaging |
Het |
| Nutm1 |
G |
T |
2: 112,082,174 (GRCm39) |
Q301K |
probably damaging |
Het |
| Or2t46 |
T |
A |
11: 58,471,958 (GRCm39) |
I96N |
probably damaging |
Het |
| Or4c102 |
A |
G |
2: 88,423,011 (GRCm39) |
R288G |
probably damaging |
Het |
| Or5p50 |
A |
G |
7: 107,421,776 (GRCm39) |
I300T |
probably damaging |
Het |
| Or6e1 |
T |
A |
14: 54,519,704 (GRCm39) |
Y216F |
possibly damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,126,086 (GRCm39) |
Y28C |
probably damaging |
Het |
| Pcdha11 |
G |
C |
18: 37,140,590 (GRCm39) |
V740L |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,767,472 (GRCm39) |
T1273A |
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,727,058 (GRCm39) |
D574G |
probably damaging |
Het |
| Prrc2b |
A |
T |
2: 32,109,392 (GRCm39) |
Q1719L |
possibly damaging |
Het |
| Psap |
A |
G |
10: 60,113,511 (GRCm39) |
|
probably benign |
Het |
| Pwwp3a |
A |
G |
10: 80,077,694 (GRCm39) |
I656V |
probably benign |
Het |
| Rab11fip2 |
C |
T |
19: 59,925,422 (GRCm39) |
S265N |
probably benign |
Het |
| Rnf10 |
A |
T |
5: 115,398,373 (GRCm39) |
D53E |
probably benign |
Het |
| Scgb2b11 |
T |
C |
7: 31,908,764 (GRCm39) |
E112G |
probably benign |
Het |
| Scml4 |
T |
C |
10: 42,800,100 (GRCm39) |
Y85H |
noncoding transcript |
Het |
| Setd5 |
T |
A |
6: 113,127,916 (GRCm39) |
Y1290N |
probably benign |
Het |
| Sgk1 |
T |
A |
10: 21,873,298 (GRCm39) |
C375S |
probably damaging |
Het |
| Sik2 |
A |
G |
9: 50,828,415 (GRCm39) |
V209A |
possibly damaging |
Het |
| Sipa1l2 |
A |
T |
8: 126,195,410 (GRCm39) |
V776D |
probably damaging |
Het |
| Slamf1 |
T |
A |
1: 171,594,796 (GRCm39) |
M1K |
probably null |
Het |
| Slc26a7 |
T |
C |
4: 14,621,415 (GRCm39) |
|
probably benign |
Het |
| Spg11 |
G |
T |
2: 121,918,820 (GRCm39) |
|
probably benign |
Het |
| Sry |
C |
A |
Y: 2,663,298 (GRCm39) |
A121S |
possibly damaging |
Het |
| Sspo |
C |
T |
6: 48,462,386 (GRCm39) |
T3719I |
probably damaging |
Het |
| Tcap |
T |
C |
11: 98,275,171 (GRCm39) |
S102P |
probably benign |
Het |
| Thap7 |
T |
C |
16: 17,346,486 (GRCm39) |
R166G |
probably benign |
Het |
| Tmem229a |
T |
C |
6: 24,955,580 (GRCm39) |
Y58C |
probably damaging |
Het |
| Trim8 |
A |
G |
19: 46,504,059 (GRCm39) |
Y537C |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,200,528 (GRCm39) |
M4692K |
unknown |
Het |
| Uvssa |
A |
G |
5: 33,549,523 (GRCm39) |
S395G |
probably benign |
Het |
| Vgll4 |
G |
T |
6: 114,867,695 (GRCm39) |
T52K |
probably damaging |
Het |
| Vmn2r7 |
A |
G |
3: 64,600,527 (GRCm39) |
L548P |
probably benign |
Het |
| Vmn2r92 |
T |
A |
17: 18,387,134 (GRCm39) |
S158T |
probably damaging |
Het |
| Wdr70 |
A |
T |
15: 8,072,337 (GRCm39) |
|
probably benign |
Het |
| Zbtb48 |
A |
T |
4: 152,105,344 (GRCm39) |
C463S |
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 |
|
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'- ACCTGGGGTCCAACAATGAG -3'
(R):5'- TGGGGCTTTTAAGTACTGATCAAC -3'
Sequencing Primer
(F):5'- TCCAACAATGAGAGGAAATGGTTTAG -3'
(R):5'- CTGATCAACATTCTTTTGAGAGACAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation