Mutagenetix > Incidental Mutation

Incidental Mutation 'R7625:Fhit'

589410

Institutional Source

Beutler Lab

Gene Symbol

Fhit

Ensembl Gene

ENSMUSG00000060579

Gene Name

fragile histidine triad gene

Synonyms

Fra14A2

MMRRC Submission

045719-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.650) question?

Stock #

R7625 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11307738-12919681 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 9870177 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123874 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000160340] [ENSMUST00000160956] [ENSMUST00000161302] [ENSMUST00000161895] [ENSMUST00000162278] [ENSMUST00000162817] [ENSMUST00000179394]

AlphaFold

O89106

Predicted Effect

probably null
Transcript: ENSMUST00000160340

SMART Domains

Protein: ENSMUSP00000124017
Gene: ENSMUSG00000060579

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 null
Transcript: ENSMUST00000160956

SMART Domains

Protein: ENSMUSP00000123820
Gene: ENSMUSG00000060579

Domain	Start	End	E-Value	Type
Pfam:HIT	9	57	6.5e-11	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000161302

SMART Domains

Protein: ENSMUSP00000123874
Gene: ENSMUSG00000060579

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 null
Transcript: ENSMUST00000161895

SMART Domains

Protein: ENSMUSP00000124957
Gene: ENSMUSG00000060579

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 null
Transcript: ENSMUST00000162278

SMART Domains

Protein: ENSMUSP00000124073
Gene: ENSMUSG00000060579

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 null
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 null
Transcript: ENSMUST00000179394

SMART Domains

Protein: ENSMUSP00000136011
Gene: ENSMUSG00000060579

Domain	Start	End	E-Value	Type
Pfam:DcpS_C	7	110	8.2e-10	PFAM
Pfam:HIT	9	105	4.9e-28	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (59/60)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	A	8: 111,773,587 (GRCm39)	V506E	probably damaging	Het
Acaa2	G	T	18: 74,937,213 (GRCm39)	V366F	possibly damaging	Het
Ago1	G	A	4: 126,337,022 (GRCm39)	R532C	probably benign	Het
Ank2	T	G	3: 126,846,449 (GRCm39)	D182A	probably damaging	Het
Anxa4	T	C	6: 86,714,801 (GRCm39)	D302G	probably damaging	Het
Apoa4	A	T	9: 46,154,410 (GRCm39)	E337V	probably damaging	Het
Atf1	A	G	15: 100,152,158 (GRCm39)		probably null	Het
Atp8b3	A	C	10: 80,355,980 (GRCm39)	V1244G	probably benign	Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,157,152 (GRCm39)		probably benign	Het
Camk2a	G	A	18: 61,085,412 (GRCm39)	V132M	probably damaging	Het
Cdc40	A	T	10: 40,724,048 (GRCm39)	Y247N	probably benign	Het
Chd8	G	A	14: 52,474,534 (GRCm39)	P166S	probably benign	Het
Chl1	T	A	6: 103,706,086 (GRCm39)	S1140R	probably damaging	Het
Clstn3	G	T	6: 124,414,377 (GRCm39)	S783*	probably null	Het
Col6a1	A	G	10: 76,549,760 (GRCm39)	S562P	unknown	Het
Cpb2	G	A	14: 75,509,989 (GRCm39)	V250M	possibly damaging	Het
Cyp2c38	T	A	19: 39,451,368 (GRCm39)	Q44L	possibly damaging	Het
Dgat1	T	C	15: 76,387,395 (GRCm39)	M325V	possibly damaging	Het
Dnah11	T	A	12: 118,160,377 (GRCm39)	M118L	probably benign	Het
Dpy19l3	T	A	7: 35,452,106 (GRCm39)	I13L	probably benign	Het
Enkd1	A	G	8: 106,431,265 (GRCm39)		probably null	Het
Fam241b	A	G	10: 61,970,479 (GRCm39)		probably benign	Het
Gp6	T	C	7: 4,373,173 (GRCm39)	E250G	probably benign	Het
Hmgb1	T	C	5: 148,987,150 (GRCm39)	E84G	probably benign	Het
Hscb	T	A	5: 110,977,012 (GRCm39)	I227F	probably damaging	Het
Hspg2	T	A	4: 137,292,249 (GRCm39)	L4047Q	probably damaging	Het
Hsph1	A	G	5: 149,541,901 (GRCm39)	L775P	probably benign	Het
Hydin	A	T	8: 111,268,476 (GRCm39)	S2947C	probably benign	Het
Intu	T	C	3: 40,652,029 (GRCm39)	S829P	probably benign	Het
Kcnn3	C	A	3: 89,516,977 (GRCm39)	T462K	probably damaging	Het
Kndc1	G	A	7: 139,517,930 (GRCm39)	C1622Y	possibly damaging	Het
Lifr	T	C	15: 7,198,723 (GRCm39)	Y318H	probably damaging	Het
Mier2	A	G	10: 79,378,543 (GRCm39)	S332P	probably damaging	Het
Mindy4	T	C	6: 55,253,598 (GRCm39)	I489T	possibly damaging	Het
Mmp8	A	T	9: 7,566,218 (GRCm39)	Q358L	probably benign	Het
Ms4a4a	T	A	19: 11,367,728 (GRCm39)		probably null	Het
Nav1	G	C	1: 135,395,483 (GRCm39)	S962C	probably damaging	Het
Nfe2l1	G	A	11: 96,710,271 (GRCm39)	R653C	probably damaging	Het
Nherf4	A	T	9: 44,161,594 (GRCm39)	I95N	probably damaging	Het
Nod2	A	T	8: 89,391,906 (GRCm39)	I738F	probably damaging	Het
Nrf1	G	A	6: 30,116,230 (GRCm39)	V301I	probably benign	Het
Oog1	T	C	12: 87,655,082 (GRCm39)	F410S	probably benign	Het
Or52a33	A	G	7: 103,289,165 (GRCm39)	Y61H	probably damaging	Het
Or6k4	G	A	1: 173,964,733 (GRCm39)	C141Y	probably benign	Het
Pcdhga8	G	A	18: 37,859,954 (GRCm39)	V337I	probably benign	Het
Pelp1	G	T	11: 70,286,260 (GRCm39)	N572K	probably benign	Het
Pikfyve	T	C	1: 65,307,036 (GRCm39)	V1808A	possibly damaging	Het
Pirt	A	C	11: 66,816,769 (GRCm39)	S27R	probably damaging	Het
Pramel20	A	T	4: 143,298,821 (GRCm39)	I255L	probably benign	Het
Rgs17	A	T	10: 5,791,488 (GRCm39)	D96E	probably benign	Het
Senp1	A	G	15: 97,964,679 (GRCm39)	F206L	probably benign	Het
Sh3rf1	T	A	8: 61,825,756 (GRCm39)	S584T	probably benign	Het
Tex44	A	T	1: 86,354,459 (GRCm39)	K123*	probably null	Het
Tpst2	C	A	5: 112,455,887 (GRCm39)	T142K	probably damaging	Het
Ttc28	G	A	5: 111,433,085 (GRCm39)	G2040R	possibly damaging	Het
Uggt2	T	A	14: 119,263,905 (GRCm39)	I1042F	probably damaging	Het
Vmn2r91	T	C	17: 18,325,693 (GRCm39)	S104P	probably damaging	Het
Wdfy3	T	C	5: 102,003,252 (GRCm39)		probably null	Het
Zeb2	G	A	2: 44,892,584 (GRCm39)	A223V	probably damaging	Het
Zfp1002	T	C	2: 150,096,520 (GRCm39)	D303G	probably benign	Het
Zfp566	A	G	7: 29,777,930 (GRCm39)	S84P	probably benign	Het
Zfp994	T	A	17: 22,420,736 (GRCm39)	H71L	possibly 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
R6846:Fhit	UTSW	14	9,763,762 (GRCm38)	missense	possibly damaging	0.73
R7288:Fhit	UTSW	14	9,763,784 (GRCm38)	missense	probably damaging	1.00
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'- CAGTTGTGAACAATCTGTGAACTCAC -3'
(R):5'- AGTGCTGGTATCACTTTGCCC -3'

Sequencing Primer
(F):5'- CAATCTGTGAACTCACTTGCATGGAG -3'
(R):5'- TGTGTGTCAAGACATCTCCCTCAAAG -3'

Posted On

2019-10-24