Incidental Mutation 'R6846:Fhit'
| ID |
534780 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fhit
|
| Ensembl Gene |
ENSMUSG00000060579 |
| Gene Name |
fragile histidine triad gene |
| Synonyms |
Fra14A2 |
| MMRRC Submission |
044952-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.604)
|
| Stock # |
R6846 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
11307738-12919681 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 9763762 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 172
(R172L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124017
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000160340]
[ENSMUST00000161302]
[ENSMUST00000161895]
[ENSMUST00000162278]
[ENSMUST00000162817]
[ENSMUST00000179394]
|
| AlphaFold |
O89106 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160340
AA Change: R172L
PolyPhen 2
Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000124017
Gene: ENSMUSG00000060579
AA Change: R172L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DcpS_C
|
60 |
170 |
2e-9 |
PFAM |
|
Pfam:HIT
|
72 |
168 |
6.8e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161302
AA Change: R109L
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000123874
Gene: ENSMUSG00000060579
AA Change: R109L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DcpS_C
|
7 |
110 |
8.2e-10 |
PFAM |
|
Pfam:HIT
|
9 |
105 |
4.9e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161895
AA Change: R109L
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000124957
Gene: ENSMUSG00000060579
AA Change: R109L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DcpS_C
|
6 |
110 |
4.3e-10 |
PFAM |
|
Pfam:HIT
|
9 |
105 |
2e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162278
AA Change: R109L
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000124073
Gene: ENSMUSG00000060579
AA Change: R109L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DcpS_C
|
7 |
110 |
8.2e-10 |
PFAM |
|
Pfam:HIT
|
9 |
105 |
4.9e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162817
|
| SMART Domains |
Protein: ENSMUSP00000124500
Gene: ENSMUSG00000060579
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DcpS_C
|
5 |
100 |
2.3e-7 |
PFAM |
|
Pfam:HIT
|
9 |
100 |
1.9e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179394
AA Change: R109L
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000136011
Gene: ENSMUSG00000060579
AA Change: R109L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DcpS_C
|
7 |
110 |
8.2e-10 |
PFAM |
|
Pfam:HIT
|
9 |
105 |
4.9e-28 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (42/42) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the HIT family of proteins that are characterized by the presence of a histidine triad sequence. The encoded protein is a diadenosine triphosphate hydrolase enzyme that cleaves the P(1)-P(3)-bis(5'-adenosyl) triphosphate (Ap3A) to yield AMP and ADP. This locus is very fragile and has been found to be altered in different types of cancers. Mice lacking the encoded protein display increased susceptibility to spontaneous and induced tumors. Ectopic expression of the encoded protein in such knockout mice inhibits tumor development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
PHENOTYPE: Both homozygotes and heterozygotes for a targeted null mutation exhibit a similarly increased incidence of both spontaneous and nitrosomethylbenzalamine-induced tumors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
A |
G |
19: 8,989,221 (GRCm39) |
N3502D |
possibly damaging |
Het |
| Ambn |
T |
A |
5: 88,609,574 (GRCm39) |
I94K |
possibly damaging |
Het |
| Ank3 |
A |
G |
10: 69,660,179 (GRCm39) |
H227R |
probably damaging |
Het |
| Arhgap42 |
G |
T |
9: 9,006,446 (GRCm39) |
P650Q |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,162,422 (GRCm39) |
E240G |
possibly damaging |
Het |
| Cd19 |
T |
C |
7: 126,010,025 (GRCm39) |
E408G |
probably benign |
Het |
| Cdh11 |
G |
A |
8: 103,391,276 (GRCm39) |
T320I |
probably damaging |
Het |
| Cep131 |
G |
A |
11: 119,956,517 (GRCm39) |
R944W |
probably damaging |
Het |
| Dgkd |
T |
G |
1: 87,853,413 (GRCm39) |
|
probably null |
Het |
| Dnaaf1 |
T |
A |
8: 120,309,401 (GRCm39) |
L163Q |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,814,081 (GRCm39) |
C1342R |
possibly damaging |
Het |
| Etl4 |
T |
A |
2: 20,748,919 (GRCm39) |
L550Q |
possibly damaging |
Het |
| Evpl |
T |
C |
11: 116,114,633 (GRCm39) |
E1019G |
probably damaging |
Het |
| Fam120b |
T |
C |
17: 15,635,091 (GRCm39) |
L601P |
probably damaging |
Het |
| Hoxa6 |
T |
C |
6: 52,183,523 (GRCm39) |
H174R |
possibly damaging |
Het |
| Htra4 |
A |
G |
8: 25,520,561 (GRCm39) |
F367L |
probably damaging |
Het |
| Ighg2c |
A |
G |
12: 113,251,930 (GRCm39) |
I102T |
unknown |
Het |
| Iws1 |
T |
C |
18: 32,219,326 (GRCm39) |
|
probably benign |
Het |
| Lats2 |
A |
G |
14: 57,933,591 (GRCm39) |
V842A |
probably damaging |
Het |
| Limd2 |
C |
T |
11: 106,050,213 (GRCm39) |
M1I |
probably null |
Het |
| Lrp2 |
T |
A |
2: 69,348,787 (GRCm39) |
Q728L |
probably damaging |
Het |
| Mcc |
T |
A |
18: 44,606,707 (GRCm39) |
T400S |
possibly damaging |
Het |
| Mthfd1l |
A |
G |
10: 3,997,898 (GRCm39) |
D623G |
probably damaging |
Het |
| Myocos |
T |
C |
1: 162,484,665 (GRCm39) |
|
probably benign |
Het |
| Nat1 |
G |
T |
8: 67,943,995 (GRCm39) |
A124S |
probably benign |
Het |
| Nfya |
A |
T |
17: 48,702,715 (GRCm39) |
M62K |
probably benign |
Het |
| Nlgn1 |
A |
G |
3: 25,490,506 (GRCm39) |
V378A |
probably damaging |
Het |
| Or52r1c |
T |
A |
7: 102,735,265 (GRCm39) |
I175N |
possibly damaging |
Het |
| Or5ak22 |
A |
T |
2: 85,230,861 (GRCm39) |
N5K |
probably damaging |
Het |
| Pitpnm2 |
T |
C |
5: 124,269,234 (GRCm39) |
S463G |
probably benign |
Het |
| Serpinb3b |
T |
C |
1: 107,082,403 (GRCm39) |
E287G |
probably benign |
Het |
| Slc16a13 |
T |
C |
11: 70,108,661 (GRCm39) |
T390A |
probably benign |
Het |
| Slc7a14 |
A |
G |
3: 31,278,372 (GRCm39) |
M411T |
probably damaging |
Het |
| Strn |
A |
G |
17: 79,043,886 (GRCm39) |
F11L |
probably damaging |
Het |
| Swap70 |
T |
A |
7: 109,854,956 (GRCm39) |
F85L |
possibly damaging |
Het |
| Tanc2 |
T |
A |
11: 105,689,479 (GRCm39) |
W214R |
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,729,773 (GRCm39) |
K1411R |
probably benign |
Het |
| Tmem176a |
G |
T |
6: 48,820,759 (GRCm39) |
R116L |
probably damaging |
Het |
| Trim71 |
G |
T |
9: 114,354,115 (GRCm39) |
H296Q |
probably damaging |
Het |
| Vmn1r67 |
A |
T |
7: 10,180,840 (GRCm39) |
I35L |
probably benign |
Het |
| Vnn3 |
A |
G |
10: 23,727,620 (GRCm39) |
T47A |
probably benign |
Het |
| Zscan10 |
A |
T |
17: 23,824,581 (GRCm39) |
Q12H |
probably damaging |
Het |
|
| Other mutations in Fhit |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01411:Fhit
|
APN |
14 |
9,573,483 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL01412:Fhit
|
APN |
14 |
9,870,065 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02831:Fhit
|
APN |
14 |
9,870,080 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL03025:Fhit
|
APN |
14 |
10,421,534 (GRCm38) |
missense |
probably damaging |
1.00 |
|
overtax
|
UTSW |
14 |
10,421,534 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0464:Fhit
|
UTSW |
14 |
10,991,567 (GRCm38) |
start gained |
probably benign |
|
|
R0544:Fhit
|
UTSW |
14 |
9,870,172 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3545:Fhit
|
UTSW |
14 |
9,870,095 (GRCm38) |
missense |
probably benign |
0.03 |
|
R3547:Fhit
|
UTSW |
14 |
9,870,095 (GRCm38) |
missense |
probably benign |
0.03 |
|
R3548:Fhit
|
UTSW |
14 |
9,870,095 (GRCm38) |
missense |
probably benign |
0.03 |
|
R4033:Fhit
|
UTSW |
14 |
10,751,671 (GRCm38) |
intron |
probably benign |
|
|
R4685:Fhit
|
UTSW |
14 |
9,870,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4968:Fhit
|
UTSW |
14 |
10,421,522 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5624:Fhit
|
UTSW |
14 |
10,421,534 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6011:Fhit
|
UTSW |
14 |
9,870,068 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6061:Fhit
|
UTSW |
14 |
9,573,435 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6208:Fhit
|
UTSW |
14 |
9,573,435 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7288:Fhit
|
UTSW |
14 |
9,763,784 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7625:Fhit
|
UTSW |
14 |
9,870,177 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R8094:Fhit
|
UTSW |
14 |
10,751,666 (GRCm38) |
missense |
unknown |
|
|
R8482:Fhit
|
UTSW |
14 |
10,751,616 (GRCm38) |
missense |
probably benign |
0.09 |
|
R8781:Fhit
|
UTSW |
14 |
10,421,503 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9246:Fhit
|
UTSW |
14 |
10,421,494 (GRCm38) |
critical splice donor site |
probably null |
|
|
Z1177:Fhit
|
UTSW |
14 |
9,870,128 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATTCTCCTGGTGGTCACTC -3'
(R):5'- ACTCCCATATGCCTCCAAGTTG -3'
Sequencing Primer
(F):5'- GGTGGTCACTCTTCCCTTGTTAG -3'
(R):5'- TTTCTTCTCAACAGGTTTCAGATG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation