Incidental Mutation 'R7957:Fam83b'
| ID |
649899 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam83b
|
| Ensembl Gene |
ENSMUSG00000032358 |
| Gene Name |
family with sequence similarity 83, member B |
| Synonyms |
C530008M07Rik |
| MMRRC Submission |
046001-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R7957 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
76490054-76567116 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76491985 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 612
(H612L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096146
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098546]
[ENSMUST00000183437]
|
| AlphaFold |
Q0VBM2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098546
AA Change: H612L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000096146
Gene: ENSMUSG00000032358
AA Change: H612L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1669
|
12 |
282 |
5.6e-109 |
PFAM |
|
Pfam:PLDc_2
|
139 |
277 |
2.4e-12 |
PFAM |
|
low complexity region
|
557 |
574 |
N/A |
INTRINSIC |
|
low complexity region
|
731 |
742 |
N/A |
INTRINSIC |
|
low complexity region
|
747 |
760 |
N/A |
INTRINSIC |
|
low complexity region
|
826 |
846 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183437
AA Change: H612L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000139354
Gene: ENSMUSG00000032358
AA Change: H612L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1669
|
7 |
283 |
2.8e-111 |
PFAM |
|
Pfam:PLDc_2
|
139 |
277 |
2.4e-9 |
PFAM |
|
low complexity region
|
557 |
574 |
N/A |
INTRINSIC |
|
low complexity region
|
731 |
742 |
N/A |
INTRINSIC |
|
low complexity region
|
747 |
760 |
N/A |
INTRINSIC |
|
low complexity region
|
826 |
846 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (46/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 110,091,613 (GRCm38) |
M1T |
probably null |
Het |
| Abhd2 |
T |
A |
7: 79,325,446 (GRCm38) |
M128K |
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,317,212 (GRCm38) |
T1333A |
possibly damaging |
Het |
| Alg8 |
A |
G |
7: 97,390,924 (GRCm38) |
T438A |
probably benign |
Het |
| Cebpa |
A |
G |
7: 35,120,442 (GRCm38) |
I342V |
possibly damaging |
Het |
| Chd9 |
T |
C |
8: 91,051,698 (GRCm38) |
M2779T |
probably damaging |
Het |
| Cnot3 |
C |
A |
7: 3,658,222 (GRCm38) |
P577T |
probably benign |
Het |
| Col17a1 |
T |
C |
19: 47,661,117 (GRCm38) |
D755G |
probably damaging |
Het |
| Col5a3 |
A |
G |
9: 20,774,051 (GRCm38) |
V1443A |
unknown |
Het |
| Crygs |
C |
T |
16: 22,805,332 (GRCm38) |
R175H |
probably damaging |
Het |
| Fam193a |
A |
G |
5: 34,462,086 (GRCm38) |
D1031G |
probably damaging |
Het |
| Gabrr2 |
A |
G |
4: 33,081,410 (GRCm38) |
T149A |
probably damaging |
Het |
| Gm15922 |
C |
G |
7: 3,737,320 (GRCm38) |
A301P |
probably damaging |
Het |
| Gm3667 |
T |
C |
14: 6,872,332 (GRCm38) |
N156D |
probably benign |
Het |
| Hpcal1 |
T |
A |
12: 17,791,170 (GRCm38) |
L183Q |
probably damaging |
Het |
| Ilf2 |
G |
T |
3: 90,487,470 (GRCm38) |
E342* |
probably null |
Het |
| Ints13 |
A |
G |
6: 146,550,766 (GRCm38) |
S652P |
probably damaging |
Het |
| Kansl2 |
C |
A |
15: 98,524,618 (GRCm38) |
E356D |
probably benign |
Het |
| Klhl6 |
T |
C |
16: 19,949,451 (GRCm38) |
E448G |
probably null |
Het |
| Mmp14 |
A |
G |
14: 54,436,250 (GRCm38) |
I124V |
probably benign |
Het |
| Morc2b |
A |
T |
17: 33,135,773 (GRCm38) |
D1008E |
probably benign |
Het |
| Muc16 |
A |
C |
9: 18,643,471 (GRCm38) |
V3842G |
unknown |
Het |
| Myo9b |
A |
T |
8: 71,354,761 (GRCm38) |
I1614F |
probably benign |
Het |
| Nipa1 |
A |
T |
7: 55,979,799 (GRCm38) |
C189S |
probably damaging |
Het |
| Nov |
G |
T |
15: 54,746,338 (GRCm38) |
S78I |
possibly damaging |
Het |
| Ntn4 |
T |
C |
10: 93,644,473 (GRCm38) |
|
probably benign |
Het |
| Olfr1274-ps |
A |
T |
2: 90,401,051 (GRCm38) |
Y130F |
probably damaging |
Het |
| Olfr146 |
T |
G |
9: 39,019,053 (GRCm38) |
I163L |
probably benign |
Het |
| Olfr329-ps |
A |
G |
11: 58,542,798 (GRCm38) |
L239P |
probably damaging |
Het |
| Olfr358 |
A |
G |
2: 37,004,960 (GRCm38) |
I218T |
probably benign |
Het |
| Olfr399 |
A |
C |
11: 74,054,156 (GRCm38) |
L201R |
probably damaging |
Het |
| Pank1 |
T |
A |
19: 34,813,696 (GRCm38) |
H528L |
probably damaging |
Het |
| Pappa2 |
A |
T |
1: 158,761,561 (GRCm38) |
L1698* |
probably null |
Het |
| Park7 |
A |
G |
4: 150,903,884 (GRCm38) |
S85P |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,687,209 (GRCm38) |
D1334G |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 79,214,969 (GRCm38) |
E30G |
probably benign |
Het |
| Rhbdf1 |
A |
G |
11: 32,210,523 (GRCm38) |
F676L |
probably damaging |
Het |
| Rsf1 |
GGC |
GGCCACGGCAGC |
7: 97,579,906 (GRCm38) |
|
probably benign |
Het |
| Scd4 |
G |
T |
19: 44,341,248 (GRCm38) |
M219I |
probably benign |
Het |
| Slfn5 |
T |
A |
11: 82,956,787 (GRCm38) |
I166N |
probably benign |
Het |
| Smim22 |
A |
T |
16: 5,008,225 (GRCm38) |
D85V |
probably damaging |
Het |
| Socs2 |
T |
C |
10: 95,414,950 (GRCm38) |
E7G |
probably benign |
Het |
| Thumpd2 |
T |
C |
17: 81,026,728 (GRCm38) |
E477G |
probably benign |
Het |
| Tlr12 |
C |
T |
4: 128,616,690 (GRCm38) |
G589D |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,764,855 (GRCm38) |
I20317K |
probably damaging |
Het |
| Ttyh2 |
A |
G |
11: 114,708,864 (GRCm38) |
|
probably null |
Het |
| Ugt2a3 |
T |
A |
5: 87,327,191 (GRCm38) |
D398V |
probably damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,413,132 (GRCm38) |
M101L |
|
Het |
| Vmn2r93 |
A |
T |
17: 18,325,692 (GRCm38) |
R609* |
probably null |
Het |
| Zfp473 |
C |
T |
7: 44,732,492 (GRCm38) |
E806K |
probably damaging |
Het |
| Zfp93 |
T |
C |
7: 24,275,574 (GRCm38) |
L328P |
probably damaging |
Het |
|
| Other mutations in Fam83b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00236:Fam83b
|
APN |
9 |
76,490,978 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01554:Fam83b
|
APN |
9 |
76,502,121 (GRCm38) |
missense |
probably benign |
0.33 |
|
IGL01694:Fam83b
|
APN |
9 |
76,490,990 (GRCm38) |
missense |
probably benign |
0.13 |
|
IGL02009:Fam83b
|
APN |
9 |
76,492,322 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02531:Fam83b
|
APN |
9 |
76,492,000 (GRCm38) |
missense |
possibly damaging |
0.61 |
|
IGL03328:Fam83b
|
APN |
9 |
76,493,042 (GRCm38) |
missense |
probably benign |
0.01 |
|
PIT4581001:Fam83b
|
UTSW |
9 |
76,491,152 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0110:Fam83b
|
UTSW |
9 |
76,492,826 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R0469:Fam83b
|
UTSW |
9 |
76,492,826 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R0510:Fam83b
|
UTSW |
9 |
76,492,826 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R0732:Fam83b
|
UTSW |
9 |
76,492,928 (GRCm38) |
nonsense |
probably null |
|
|
R0946:Fam83b
|
UTSW |
9 |
76,491,397 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0961:Fam83b
|
UTSW |
9 |
76,491,295 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1101:Fam83b
|
UTSW |
9 |
76,545,670 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R1200:Fam83b
|
UTSW |
9 |
76,492,312 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1248:Fam83b
|
UTSW |
9 |
76,503,076 (GRCm38) |
missense |
probably benign |
0.35 |
|
R1420:Fam83b
|
UTSW |
9 |
76,492,612 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1429:Fam83b
|
UTSW |
9 |
76,492,577 (GRCm38) |
missense |
probably benign |
|
|
R1939:Fam83b
|
UTSW |
9 |
76,493,080 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1992:Fam83b
|
UTSW |
9 |
76,492,022 (GRCm38) |
missense |
probably benign |
|
|
R2102:Fam83b
|
UTSW |
9 |
76,492,705 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R2134:Fam83b
|
UTSW |
9 |
76,491,016 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2398:Fam83b
|
UTSW |
9 |
76,502,218 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2878:Fam83b
|
UTSW |
9 |
76,490,810 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4092:Fam83b
|
UTSW |
9 |
76,491,661 (GRCm38) |
missense |
probably benign |
0.24 |
|
R4204:Fam83b
|
UTSW |
9 |
76,503,053 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4537:Fam83b
|
UTSW |
9 |
76,492,142 (GRCm38) |
missense |
probably benign |
0.10 |
|
R4920:Fam83b
|
UTSW |
9 |
76,491,868 (GRCm38) |
missense |
probably benign |
|
|
R5456:Fam83b
|
UTSW |
9 |
76,492,595 (GRCm38) |
missense |
probably benign |
|
|
R5473:Fam83b
|
UTSW |
9 |
76,491,500 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5488:Fam83b
|
UTSW |
9 |
76,545,599 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5489:Fam83b
|
UTSW |
9 |
76,545,599 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5876:Fam83b
|
UTSW |
9 |
76,491,850 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R6150:Fam83b
|
UTSW |
9 |
76,492,357 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6374:Fam83b
|
UTSW |
9 |
76,492,907 (GRCm38) |
missense |
probably benign |
0.31 |
|
R6468:Fam83b
|
UTSW |
9 |
76,502,131 (GRCm38) |
nonsense |
probably null |
|
|
R6912:Fam83b
|
UTSW |
9 |
76,490,932 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7022:Fam83b
|
UTSW |
9 |
76,502,112 (GRCm38) |
frame shift |
probably null |
|
|
R7073:Fam83b
|
UTSW |
9 |
76,545,749 (GRCm38) |
missense |
probably benign |
0.18 |
|
R7356:Fam83b
|
UTSW |
9 |
76,492,853 (GRCm38) |
missense |
probably benign |
0.05 |
|
R7665:Fam83b
|
UTSW |
9 |
76,490,875 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7762:Fam83b
|
UTSW |
9 |
76,492,432 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R7790:Fam83b
|
UTSW |
9 |
76,492,048 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7869:Fam83b
|
UTSW |
9 |
76,492,144 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R7879:Fam83b
|
UTSW |
9 |
76,492,455 (GRCm38) |
missense |
possibly damaging |
0.76 |
|
R8067:Fam83b
|
UTSW |
9 |
76,491,098 (GRCm38) |
missense |
probably benign |
|
|
R8983:Fam83b
|
UTSW |
9 |
76,493,075 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9361:Fam83b
|
UTSW |
9 |
76,492,794 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9405:Fam83b
|
UTSW |
9 |
76,491,421 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9475:Fam83b
|
UTSW |
9 |
76,491,803 (GRCm38) |
missense |
probably benign |
0.31 |
|
R9656:Fam83b
|
UTSW |
9 |
76,545,581 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9690:Fam83b
|
UTSW |
9 |
76,491,220 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCGATTTCTGGTAAGGGTAC -3'
(R):5'- CAACAGCTGTACAACTGGCTC -3'
Sequencing Primer
(F):5'- CATGCTCTAAATTGACCTTCGAGTGG -3'
(R):5'- AGCTGTACAACTGGCTCTTCAAATTC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation