Mutagenetix > Incidental Mutation

Incidental Mutation 'R7163:Fga'

557714

Institutional Source

Beutler Lab

Gene Symbol

Fga

Ensembl Gene

ENSMUSG00000028001

Gene Name

fibrinogen alpha chain

Synonyms

Fib, ENSMUSG00000059807

MMRRC Submission

045330-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.387) question?

Stock #

R7163 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

82933460-82940934 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82933571 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 17 (V17A)

Ref Sequence

ENSEMBL: ENSMUSP00000029630 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029630] [ENSMUST00000166581]

AlphaFold

E9PV24

Predicted Effect

probably benign
Transcript: ENSMUST00000029630
AA Change: V17A

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000029630
Gene: ENSMUSG00000028001
AA Change: V17A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	31	43	N/A	INTRINSIC
Fib_alpha	49	193	1.29e-69	SMART
low complexity region	264	286	N/A	INTRINSIC
low complexity region	311	340	N/A	INTRINSIC
Pfam:Fibrinogen_aC	392	458	1.6e-33	PFAM
low complexity region	500	522	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166581
AA Change: V17A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000133117
Gene: ENSMUSG00000028001
AA Change: V17A

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	31	43	N/A	INTRINSIC
Fib_alpha	49	193	1.29e-69	SMART
low complexity region	264	286	N/A	INTRINSIC
low complexity region	311	340	N/A	INTRINSIC
Pfam:Fibrinogen_aC	392	457	9.3e-34	PFAM
low complexity region	500	522	N/A	INTRINSIC
FBG	550	786	1.43e-128	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a subunit of the coagulation factor fibrinogen, which is a component of the blood clot. The encoded protein is proteolytically processed by thrombin during the conversion of fibrinogen to fibrin. Mice lacking the encoded protein display bleeding in the peritoneal cavity, skin and soft tissues around joints immediately after birth, and are predisposed to spontaneous fatal abdominal hemorrhage as they grow. Pregnant mice lacking the encoded protein succumb to uterine bleeding during gestation. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for disruptions of this gene have blood that is unable to clot. On some genetic backgrounds this can lead to fatal hemorrhaging. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	A	G	9: 53,319,372 (GRCm39)	K4R	possibly damaging	Het
A830018L16Rik	G	A	1: 11,484,848 (GRCm39)	G19D	probably damaging	Het
Abca3	A	T	17: 24,583,916 (GRCm39)	M102L	probably benign	Het
Adam19	A	T	11: 46,022,544 (GRCm39)	Y499F	probably benign	Het
Adck2	T	C	6: 39,560,797 (GRCm39)	V444A	probably damaging	Het
Adck5	T	C	15: 76,478,016 (GRCm39)	V214A	probably damaging	Het
Agrn	G	A	4: 156,262,966 (GRCm39)	T437M	probably damaging	Het
Aox3	A	T	1: 58,158,671 (GRCm39)	I81F	probably damaging	Het
Bcl6	G	A	16: 23,784,976 (GRCm39)	R675*	probably null	Het
Blmh	A	G	11: 76,836,987 (GRCm39)	Y23C	unknown	Het
Cacnb1	A	G	11: 97,903,726 (GRCm39)	V109A	probably benign	Het
Ccdc27	C	T	4: 154,117,282 (GRCm39)	R555H	not run	Het
Cep170	A	C	1: 176,602,031 (GRCm39)	S358R	probably damaging	Het
Cfap46	A	T	7: 139,197,994 (GRCm39)		probably null	Het
Dclk1	G	T	3: 55,163,549 (GRCm39)	E214*	probably null	Het
Dhrs1	A	G	14: 55,976,838 (GRCm39)	L282P	probably benign	Het
Dlgap5	A	G	14: 47,637,095 (GRCm39)	L461P	probably damaging	Het
Elp2	G	T	18: 24,747,503 (GRCm39)	C185F	probably benign	Het
Fbxw7	T	C	3: 84,832,892 (GRCm39)		probably benign	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gm43302	T	A	5: 105,441,493 (GRCm39)		probably null	Het
Gpatch8	TTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	11: 102,371,014 (GRCm39)		probably benign	Het
Hcn1	A	T	13: 118,062,083 (GRCm39)	I450L	unknown	Het
Hydin	T	A	8: 111,329,968 (GRCm39)	C4901S	probably benign	Het
Ino80	A	T	2: 119,223,356 (GRCm39)	I1186N	probably damaging	Het
Ints7	T	A	1: 191,349,949 (GRCm39)	I781N	possibly damaging	Het
Irf2	T	A	8: 47,290,712 (GRCm39)	V178E	possibly damaging	Het
Iws1	T	A	18: 32,226,277 (GRCm39)	S722T	possibly damaging	Het
Jak1	G	A	4: 101,032,385 (GRCm39)	S407F	probably damaging	Het
Kdm3a	G	T	6: 71,609,061 (GRCm39)	D55E	probably damaging	Het
Kdm5d	T	C	Y: 899,940 (GRCm39)	S169P	probably damaging	Het
Kif15	A	G	9: 122,846,722 (GRCm39)	N1348S	probably damaging	Het
Kpna7	G	A	5: 144,939,206 (GRCm39)	P187L	unknown	Het
Krt35	A	T	11: 99,986,984 (GRCm39)	F10Y	probably damaging	Het
Lemd1	G	T	1: 132,184,475 (GRCm39)	V131F	probably benign	Het
Mcf2l	G	A	8: 12,965,439 (GRCm39)	R4H	probably benign	Het
Megf6	C	T	4: 154,351,898 (GRCm39)	R1166C	probably damaging	Het
Mmp11	T	C	10: 75,762,410 (GRCm39)	I308V	possibly damaging	Het
Mrgpra4	A	G	7: 47,631,238 (GRCm39)	V121A	probably benign	Het
Myl2	T	A	5: 122,239,885 (GRCm39)	I26N	probably damaging	Het
Myo15a	A	G	11: 60,389,195 (GRCm39)	M862V		Het
Nckap5l	T	C	15: 99,331,354 (GRCm39)	H64R	probably damaging	Het
Nipsnap2	A	C	5: 129,821,774 (GRCm39)	E90A	probably benign	Het
Nup210	G	T	6: 91,050,313 (GRCm39)	N385K	probably damaging	Het
Or2h2	T	C	17: 37,396,937 (GRCm39)	N40S	probably damaging	Het
Or2t48	C	A	11: 58,419,994 (GRCm39)	E273*	probably null	Het
Or5m11b	T	A	2: 85,805,932 (GRCm39)	L115Q	probably damaging	Het
Or8c19-ps1	T	C	9: 38,220,345 (GRCm39)	F85L	probably damaging	Het
Or9e1	T	C	11: 58,732,012 (GRCm39)	V24A	probably benign	Het
Pcmt1	A	T	10: 7,513,922 (GRCm39)	M249K	probably benign	Het
Pde3a	T	C	6: 141,433,270 (GRCm39)	L767P	probably damaging	Het
Pde8a	T	C	7: 80,956,456 (GRCm39)	V285A	possibly damaging	Het
Pla2g4a	T	A	1: 149,716,416 (GRCm39)	K690*	probably null	Het
Plxna4	T	C	6: 32,473,691 (GRCm39)	H442R	probably benign	Het
Polr1b	A	G	2: 128,967,931 (GRCm39)	D1108G	probably benign	Het
Prkn	G	A	17: 12,280,434 (GRCm39)	C430Y	probably damaging	Het
Sec23ip	T	C	7: 128,364,257 (GRCm39)		probably null	Het
Slc24a3	A	G	2: 145,086,911 (GRCm39)	D57G	probably benign	Het
Sprtn	T	G	8: 125,625,044 (GRCm39)	F50V	probably damaging	Het
Srr	A	G	11: 74,803,828 (GRCm39)	F43S	probably damaging	Het
Szt2	A	G	4: 118,262,727 (GRCm39)	F17L	possibly damaging	Het
Taar1	G	T	10: 23,796,918 (GRCm39)	M205I	probably benign	Het
Tas2r143	A	G	6: 42,377,202 (GRCm39)	I11V	probably benign	Het
Tlx1	T	C	19: 45,139,655 (GRCm39)	S101P	probably damaging	Het
Tmeff2	T	C	1: 50,977,503 (GRCm39)		probably null	Het
Vhl	A	G	6: 113,606,451 (GRCm39)	D156G	possibly damaging	Het
Washc4	T	A	10: 83,426,897 (GRCm39)	D1068E	probably damaging	Het
Zfp513	A	G	5: 31,358,076 (GRCm39)	V101A	probably benign	Het
Zfp82	T	C	7: 29,761,669 (GRCm39)	R71G	probably benign	Het

Other mutations in Fga

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Fga	APN	3	82,938,981 (GRCm39)	missense	probably damaging	1.00
IGL00478:Fga	APN	3	82,935,951 (GRCm39)	missense	probably benign	0.00
IGL00587:Fga	APN	3	82,937,596 (GRCm39)	missense	possibly damaging	0.62
IGL01289:Fga	APN	3	82,938,552 (GRCm39)	missense	possibly damaging	0.85
IGL01323:Fga	APN	3	82,937,518 (GRCm39)	missense	probably damaging	0.99
IGL01369:Fga	APN	3	82,937,507 (GRCm39)	missense	probably benign	0.00
IGL01409:Fga	APN	3	82,940,059 (GRCm39)	missense	probably damaging	1.00
IGL01541:Fga	APN	3	82,940,014 (GRCm39)	missense	probably damaging	1.00
IGL01633:Fga	APN	3	82,937,606 (GRCm39)	missense	possibly damaging	0.89
IGL01966:Fga	APN	3	82,936,461 (GRCm39)	missense	probably damaging	0.97
IGL02651:Fga	APN	3	82,935,841 (GRCm39)	missense	probably benign	0.00
IGL02822:Fga	APN	3	82,938,789 (GRCm39)	missense	probably damaging	1.00
IGL03003:Fga	APN	3	82,940,037 (GRCm39)	missense	probably damaging	1.00
R0336:Fga	UTSW	3	82,938,164 (GRCm39)	missense	probably damaging	1.00
R0540:Fga	UTSW	3	82,935,869 (GRCm39)	missense	probably damaging	1.00
R0607:Fga	UTSW	3	82,935,869 (GRCm39)	missense	probably damaging	1.00
R1471:Fga	UTSW	3	82,935,925 (GRCm39)	missense	probably benign	0.16
R1517:Fga	UTSW	3	82,939,145 (GRCm39)	missense	probably benign	0.00
R1817:Fga	UTSW	3	82,939,082 (GRCm39)	missense	probably benign	0.00
R1874:Fga	UTSW	3	82,940,028 (GRCm39)	missense	probably damaging	1.00
R2014:Fga	UTSW	3	82,940,064 (GRCm39)	missense	probably damaging	0.99
R2267:Fga	UTSW	3	82,940,257 (GRCm39)	missense	probably damaging	1.00
R2332:Fga	UTSW	3	82,938,704 (GRCm39)	missense	probably damaging	1.00
R2420:Fga	UTSW	3	82,940,461 (GRCm39)	missense	possibly damaging	0.53
R2443:Fga	UTSW	3	82,935,848 (GRCm39)	missense	probably benign	0.03
R3978:Fga	UTSW	3	82,937,490 (GRCm39)	critical splice acceptor site	probably null
R4597:Fga	UTSW	3	82,938,542 (GRCm39)	nonsense	probably null
R4644:Fga	UTSW	3	82,937,573 (GRCm39)	missense	possibly damaging	0.81
R4760:Fga	UTSW	3	82,938,821 (GRCm39)	missense	probably benign
R4867:Fga	UTSW	3	82,935,951 (GRCm39)	missense	probably benign	0.00
R5449:Fga	UTSW	3	82,938,169 (GRCm39)	frame shift	probably null
R5507:Fga	UTSW	3	82,940,643 (GRCm39)	missense	probably damaging	1.00
R5712:Fga	UTSW	3	82,940,440 (GRCm39)	missense	possibly damaging	0.70
R6853:Fga	UTSW	3	82,938,219 (GRCm39)	missense	probably damaging	1.00
R6865:Fga	UTSW	3	82,938,848 (GRCm39)	missense	probably damaging	1.00
R7724:Fga	UTSW	3	82,936,432 (GRCm39)	missense	probably damaging	0.99
R8153:Fga	UTSW	3	82,938,164 (GRCm39)	missense	probably damaging	1.00
R8506:Fga	UTSW	3	82,940,623 (GRCm39)	missense	probably damaging	1.00
R8511:Fga	UTSW	3	82,939,064 (GRCm39)	nonsense	probably null
R8523:Fga	UTSW	3	82,938,158 (GRCm39)	missense	probably damaging	1.00
R8801:Fga	UTSW	3	82,938,188 (GRCm39)	missense	possibly damaging	0.89
R8906:Fga	UTSW	3	82,939,111 (GRCm39)	missense	probably benign	0.12
R9390:Fga	UTSW	3	82,940,610 (GRCm39)	missense	probably damaging	1.00
R9609:Fga	UTSW	3	82,940,064 (GRCm39)	missense	probably damaging	1.00
X0062:Fga	UTSW	3	82,937,578 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- ATTATGGTCAGAGCACAGGAC -3'
(R):5'- AGATCTCTCGTTATCCTAGGGC -3'

Sequencing Primer
(F):5'- CAGGACACACTGTGAGCTTTG -3'
(R):5'- GGCCTCCCTCTGGACATCAC -3'

Posted On

2019-06-26