Incidental Mutation 'R5614:Fam171b'
| ID |
438124 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam171b
|
| Ensembl Gene |
ENSMUSG00000048388 |
| Gene Name |
family with sequence similarity 171, member B |
| Synonyms |
D430039N05Rik |
| MMRRC Submission |
043275-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.106)
|
| Stock # |
R5614 (G1)
|
| Quality Score |
177 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
83642980-83713830 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83643217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 42
(I42N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062702
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051454]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051454
AA Change: I42N
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000062702
Gene: ENSMUSG00000048388
AA Change: I42N
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
61 |
N/A |
INTRINSIC |
|
Pfam:UPF0560
|
80 |
591 |
4.3e-101 |
PFAM |
|
Pfam:UPF0560
|
583 |
821 |
6.7e-49 |
PFAM |
|
| Meta Mutation Damage Score |
0.0742 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| Validation Efficiency |
100% (62/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
A |
G |
4: 53,046,132 (GRCm39) |
V1712A |
probably damaging |
Het |
| Ankmy2 |
T |
C |
12: 36,243,783 (GRCm39) |
S333P |
probably damaging |
Het |
| Arfrp1 |
A |
G |
2: 181,001,236 (GRCm39) |
|
probably benign |
Het |
| Atp13a2 |
A |
G |
4: 140,719,493 (GRCm39) |
T21A |
probably benign |
Het |
| Bud23 |
C |
A |
5: 135,087,966 (GRCm39) |
A152S |
probably benign |
Het |
| Cant1 |
T |
C |
11: 118,299,569 (GRCm39) |
D260G |
probably benign |
Het |
| Ces1b |
T |
C |
8: 93,794,836 (GRCm39) |
I254M |
probably benign |
Het |
| Ces1d |
T |
C |
8: 93,902,832 (GRCm39) |
T375A |
probably benign |
Het |
| Cfap54 |
A |
G |
10: 92,880,911 (GRCm39) |
L384P |
probably damaging |
Het |
| Chrne |
C |
T |
11: 70,505,879 (GRCm39) |
V469I |
possibly damaging |
Het |
| Clspn |
A |
G |
4: 126,474,755 (GRCm39) |
E968G |
probably damaging |
Het |
| Col5a3 |
A |
G |
9: 20,694,772 (GRCm39) |
|
probably benign |
Het |
| Dtx4 |
T |
C |
19: 12,459,547 (GRCm39) |
Y419C |
probably damaging |
Het |
| Fam43a |
T |
C |
16: 30,420,490 (GRCm39) |
I358T |
possibly damaging |
Het |
| Fasn |
T |
C |
11: 120,704,154 (GRCm39) |
S1422G |
probably benign |
Het |
| Fig4 |
A |
T |
10: 41,148,981 (GRCm39) |
V157E |
probably damaging |
Het |
| Fus |
T |
C |
7: 127,573,543 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
G |
T |
2: 31,318,315 (GRCm39) |
V3887F |
probably damaging |
Het |
| Hmgcll1 |
A |
G |
9: 75,988,675 (GRCm39) |
Y182C |
probably damaging |
Het |
| Hook2 |
T |
A |
8: 85,729,137 (GRCm39) |
I585N |
probably damaging |
Het |
| Iars2 |
T |
C |
1: 185,021,705 (GRCm39) |
T866A |
probably benign |
Het |
| Iqca1l |
G |
A |
5: 24,755,140 (GRCm39) |
A330V |
probably benign |
Het |
| Lrit1 |
T |
A |
14: 36,783,911 (GRCm39) |
M413K |
probably benign |
Het |
| Myl9 |
G |
A |
2: 156,623,083 (GRCm39) |
|
probably benign |
Het |
| Nelfa |
A |
T |
5: 34,077,844 (GRCm39) |
L179Q |
probably damaging |
Het |
| Nod2 |
A |
T |
8: 89,390,824 (GRCm39) |
D355V |
probably damaging |
Het |
| Npbwr1 |
A |
T |
1: 5,987,030 (GRCm39) |
S161R |
probably damaging |
Het |
| Nxpe2 |
A |
T |
9: 48,234,401 (GRCm39) |
F289I |
probably benign |
Het |
| Odf2 |
A |
G |
2: 29,810,879 (GRCm39) |
I538M |
probably damaging |
Het |
| Osbpl6 |
T |
A |
2: 76,398,453 (GRCm39) |
V379E |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,143,750 (GRCm39) |
C3859R |
possibly damaging |
Het |
| Rgs1 |
G |
T |
1: 144,121,995 (GRCm39) |
T99N |
probably benign |
Het |
| Rnf6 |
T |
C |
5: 146,154,910 (GRCm39) |
|
probably null |
Het |
| Rtp1 |
C |
A |
16: 23,249,940 (GRCm39) |
Q102K |
possibly damaging |
Het |
| Sec24c |
T |
A |
14: 20,732,806 (GRCm39) |
V123E |
possibly damaging |
Het |
| Serpini2 |
T |
C |
3: 75,165,014 (GRCm39) |
|
probably benign |
Het |
| Stxbp5 |
A |
T |
10: 9,636,638 (GRCm39) |
|
probably benign |
Het |
| Tecta |
A |
G |
9: 42,250,351 (GRCm39) |
S1809P |
probably damaging |
Het |
| Tgfb2 |
T |
A |
1: 186,357,710 (GRCm39) |
I394F |
probably benign |
Het |
| Thg1l |
T |
C |
11: 45,841,054 (GRCm39) |
Y175C |
possibly damaging |
Het |
| Tmem67 |
C |
A |
4: 12,061,755 (GRCm39) |
K572N |
possibly damaging |
Het |
| Tollip |
T |
C |
7: 141,445,825 (GRCm39) |
T19A |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,542,451 (GRCm39) |
Y25185H |
probably damaging |
Het |
| Vgll2 |
A |
T |
10: 51,901,318 (GRCm39) |
R83* |
probably null |
Het |
| Wfdc8 |
G |
T |
2: 164,445,123 (GRCm39) |
A164E |
probably damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,111,718 (GRCm39) |
|
probably benign |
Het |
| Zfp326 |
T |
A |
5: 106,036,361 (GRCm39) |
S91T |
probably damaging |
Het |
| Zfp638 |
T |
C |
6: 83,906,623 (GRCm39) |
F263L |
probably damaging |
Het |
| Zfp800 |
G |
A |
6: 28,243,135 (GRCm39) |
T610I |
probably damaging |
Het |
| Zmym4 |
A |
G |
4: 126,804,729 (GRCm39) |
F475L |
possibly damaging |
Het |
|
| Other mutations in Fam171b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01114:Fam171b
|
APN |
2 |
83,707,072 (GRCm39) |
nonsense |
probably null |
|
|
IGL01309:Fam171b
|
APN |
2 |
83,709,791 (GRCm39) |
nonsense |
probably null |
|
|
IGL01515:Fam171b
|
APN |
2 |
83,710,577 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01604:Fam171b
|
APN |
2 |
83,709,944 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL01729:Fam171b
|
APN |
2 |
83,685,881 (GRCm39) |
splice site |
probably benign |
|
|
IGL01784:Fam171b
|
APN |
2 |
83,710,031 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
P0028:Fam171b
|
UTSW |
2 |
83,683,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1203:Fam171b
|
UTSW |
2 |
83,643,313 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1530:Fam171b
|
UTSW |
2 |
83,710,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1539:Fam171b
|
UTSW |
2 |
83,710,442 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1564:Fam171b
|
UTSW |
2 |
83,710,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Fam171b
|
UTSW |
2 |
83,683,725 (GRCm39) |
missense |
probably benign |
|
|
R1940:Fam171b
|
UTSW |
2 |
83,643,218 (GRCm39) |
small deletion |
probably benign |
|
|
R2131:Fam171b
|
UTSW |
2 |
83,710,202 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3746:Fam171b
|
UTSW |
2 |
83,709,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3777:Fam171b
|
UTSW |
2 |
83,708,605 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3840:Fam171b
|
UTSW |
2 |
83,710,406 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4920:Fam171b
|
UTSW |
2 |
83,710,703 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5007:Fam171b
|
UTSW |
2 |
83,685,853 (GRCm39) |
nonsense |
probably null |
|
|
R5178:Fam171b
|
UTSW |
2 |
83,710,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5282:Fam171b
|
UTSW |
2 |
83,683,949 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5544:Fam171b
|
UTSW |
2 |
83,685,871 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5786:Fam171b
|
UTSW |
2 |
83,708,580 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6190:Fam171b
|
UTSW |
2 |
83,707,042 (GRCm39) |
missense |
probably benign |
|
|
R6247:Fam171b
|
UTSW |
2 |
83,709,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6309:Fam171b
|
UTSW |
2 |
83,690,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6324:Fam171b
|
UTSW |
2 |
83,709,608 (GRCm39) |
nonsense |
probably null |
|
|
R7127:Fam171b
|
UTSW |
2 |
83,710,110 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7201:Fam171b
|
UTSW |
2 |
83,708,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7223:Fam171b
|
UTSW |
2 |
83,708,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7689:Fam171b
|
UTSW |
2 |
83,709,732 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7904:Fam171b
|
UTSW |
2 |
83,683,849 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8069:Fam171b
|
UTSW |
2 |
83,643,218 (GRCm39) |
small deletion |
probably benign |
|
|
R8236:Fam171b
|
UTSW |
2 |
83,710,550 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8252:Fam171b
|
UTSW |
2 |
83,708,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8458:Fam171b
|
UTSW |
2 |
83,690,864 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8463:Fam171b
|
UTSW |
2 |
83,683,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8546:Fam171b
|
UTSW |
2 |
83,685,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8706:Fam171b
|
UTSW |
2 |
83,690,864 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8792:Fam171b
|
UTSW |
2 |
83,643,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9187:Fam171b
|
UTSW |
2 |
83,710,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9225:Fam171b
|
UTSW |
2 |
83,710,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9266:Fam171b
|
UTSW |
2 |
83,683,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9353:Fam171b
|
UTSW |
2 |
83,707,028 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9532:Fam171b
|
UTSW |
2 |
83,710,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9549:Fam171b
|
UTSW |
2 |
83,643,199 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9621:Fam171b
|
UTSW |
2 |
83,643,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9625:Fam171b
|
UTSW |
2 |
83,683,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9784:Fam171b
|
UTSW |
2 |
83,690,787 (GRCm39) |
missense |
probably damaging |
0.99 |
|
RF001:Fam171b
|
UTSW |
2 |
83,643,230 (GRCm39) |
small insertion |
probably benign |
|
|
RF009:Fam171b
|
UTSW |
2 |
83,643,224 (GRCm39) |
small insertion |
probably benign |
|
|
RF011:Fam171b
|
UTSW |
2 |
83,643,239 (GRCm39) |
small insertion |
probably benign |
|
|
RF011:Fam171b
|
UTSW |
2 |
83,643,217 (GRCm39) |
small insertion |
probably benign |
|
|
RF013:Fam171b
|
UTSW |
2 |
83,643,239 (GRCm39) |
small insertion |
probably benign |
|
|
RF027:Fam171b
|
UTSW |
2 |
83,643,220 (GRCm39) |
small insertion |
probably benign |
|
|
RF029:Fam171b
|
UTSW |
2 |
83,643,236 (GRCm39) |
small insertion |
probably benign |
|
|
RF036:Fam171b
|
UTSW |
2 |
83,643,236 (GRCm39) |
small insertion |
probably benign |
|
|
RF055:Fam171b
|
UTSW |
2 |
83,643,220 (GRCm39) |
small insertion |
probably benign |
|
|
RF056:Fam171b
|
UTSW |
2 |
83,643,240 (GRCm39) |
small insertion |
probably benign |
|
|
RF060:Fam171b
|
UTSW |
2 |
83,643,221 (GRCm39) |
small insertion |
probably benign |
|
|
RF063:Fam171b
|
UTSW |
2 |
83,643,240 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCACCTTGCAGAGCACTTGC -3'
(R):5'- TAAGAATCCCGGGAAGCCTG -3'
Sequencing Primer
(F):5'- TCACGTGCGCGAGGATG -3'
(R):5'- TGATGCGATCGCTGGCAC -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation