Mutagenetix > Incidental Mutation

Incidental Mutation 'R7197:F13a1'

560035

Institutional Source

Beutler Lab

Gene Symbol

F13a1

Ensembl Gene

ENSMUSG00000039109

Gene Name

coagulation factor XIII, A1 subunit

Synonyms

Factor XIIIA, 1200014I03Rik

MMRRC Submission

045276-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7197 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37051152-37234220 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37100860 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 428 (D428G)

Ref Sequence

ENSEMBL: ENSMUSP00000048667 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037491] [ENSMUST00000164727]

AlphaFold

Q8BH61

Predicted Effect

probably damaging
Transcript: ENSMUST00000037491
AA Change: D428G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000048667
Gene: ENSMUSG00000039109
AA Change: D428G

Domain	Start	End	E-Value	Type
Pfam:Transglut_N	47	165	9e-34	PFAM
TGc	307	400	2.01e-45	SMART
Pfam:Transglut_C	519	623	2e-26	PFAM
Pfam:Transglut_C	631	728	1.3e-21	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000164727
AA Change: D428G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128316
Gene: ENSMUSG00000039109
AA Change: D428G

Domain	Start	End	E-Value	Type
Pfam:Transglut_N	46	167	3e-38	PFAM
TGc	307	400	2.01e-45	SMART
Pfam:Transglut_C	519	623	2.2e-23	PFAM
Pfam:Transglut_C	631	728	1.1e-22	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (77/79)

MGI Phenotype

FUNCTION: This gene encodes subunit A of the coagulation factor XIII that catalyzes the final step of the blood coagulation pathway. The encoded protein associates with subunit B to form a heterotetrameric proenzyme that undergoes thrombin-mediated proteolysis to generate active factor XIIIa. The transglutaminase activity of factor XIIIa is required for the calcium-dependent crosslinking of fibrin, leading to the formation of a clot. Mice lacking the encoded protein display impaired reproduction and reduced survival due to bleeding episodes, hematothorax, hematoperitoneum and subcutaneous hemorrhage. Additionally, mice lacking the encoded protein exhibit impaired wound healing and inadequate healing of myocardial infarction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mutant mice exhibit bleeding symptoms, increased lethality, and impaired fertility. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted, knock-out(2)

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	AGCTTCCCTGCTT	AGCTT	9: 57,165,505 (GRCm39)		probably null	Het
Aars2	T	C	17: 45,819,885 (GRCm39)	Y221H	probably damaging	Het
Abca8b	G	A	11: 109,836,648 (GRCm39)	R1216*	probably null	Het
Acad8	A	T	9: 26,888,967 (GRCm39)		probably null	Het
Acer2	A	G	4: 86,805,287 (GRCm39)	T84A	probably null	Het
Adgrb2	A	G	4: 129,903,315 (GRCm39)	N613S	probably damaging	Het
Arap2	T	C	5: 62,798,729 (GRCm39)	D1300G	possibly damaging	Het
Castor1	T	C	11: 4,168,949 (GRCm39)	C39R	probably damaging	Het
Ccl11	A	T	11: 81,948,665 (GRCm39)		probably benign	Het
Cfh	A	T	1: 140,016,505 (GRCm39)	Y1151*	probably null	Het
Cobll1	A	G	2: 64,928,882 (GRCm39)	S815P	probably benign	Het
Cryz	T	C	3: 154,327,205 (GRCm39)	S240P	probably damaging	Het
Csmd2	A	G	4: 128,404,826 (GRCm39)	Y2404C		Het
Fbxo42	A	G	4: 140,927,396 (GRCm39)	S559G	probably benign	Het
Fry	A	G	5: 150,393,232 (GRCm39)	S263G		Het
Fshr	C	T	17: 89,292,897 (GRCm39)	A594T	probably damaging	Het
Gm1527	A	G	3: 28,980,690 (GRCm39)	M597V	probably null	Het
Gpr158	A	T	2: 21,815,412 (GRCm39)	T602S	probably damaging	Het
Hmgxb4	C	A	8: 75,756,624 (GRCm39)	T583K	probably damaging	Het
Igkv8-30	C	T	6: 70,094,069 (GRCm39)	C114Y	probably damaging	Het
Igsf5	T	A	16: 96,204,546 (GRCm39)	N366K	probably damaging	Het
Kif15	T	C	9: 122,838,991 (GRCm39)		probably null	Het
Klk1b26	T	A	7: 43,665,821 (GRCm39)		probably null	Het
Lama1	G	T	17: 68,044,700 (GRCm39)	E200*	probably null	Het
Lpar5	C	T	6: 125,059,347 (GRCm39)	T356I	probably benign	Het
Lrch3	A	T	16: 32,810,665 (GRCm39)	T538S	probably damaging	Het
Mansc4	A	G	6: 146,977,203 (GRCm39)	S138P	probably damaging	Het
Mief1	T	C	15: 80,134,061 (GRCm39)	S373P	possibly damaging	Het
Nbas	G	T	12: 13,570,751 (GRCm39)	V2053F	possibly damaging	Het
Nek11	T	C	9: 105,121,614 (GRCm39)	E435G	probably damaging	Het
Nynrin	A	T	14: 56,109,380 (GRCm39)	I1496F	probably benign	Het
Odf1	A	T	15: 38,219,794 (GRCm39)	M41L	probably benign	Het
Or10a5	A	G	7: 106,635,364 (GRCm39)	M8V	probably benign	Het
Or4c115	A	G	2: 88,927,626 (GRCm39)	V215A	probably benign	Het
Or4c29	A	T	2: 88,740,708 (GRCm39)	F10I	probably benign	Het
Or7h8	T	G	9: 20,123,851 (GRCm39)	S69A	probably benign	Het
Oxnad1	T	C	14: 31,818,473 (GRCm39)	V106A	possibly damaging	Het
Padi4	C	A	4: 140,488,969 (GRCm39)	E157*	probably null	Het
Parp10	A	T	15: 76,126,616 (GRCm39)	F217L	probably damaging	Het
Pcdhb18	T	A	18: 37,623,436 (GRCm39)	S255R	probably benign	Het
Pde4c	G	T	8: 71,197,978 (GRCm39)	G102W	probably damaging	Het
Pde6a	T	C	18: 61,391,295 (GRCm39)	Y547H	probably damaging	Het
Phf11b	A	T	14: 59,563,507 (GRCm39)	L137I	probably benign	Het
Pigh	A	C	12: 79,130,463 (GRCm39)	I134S	probably damaging	Het
Pigt	G	A	2: 164,344,436 (GRCm39)	V362M	probably damaging	Het
Pld1	A	G	3: 28,078,401 (GRCm39)	D20G	probably damaging	Het
Pou3f2	T	C	4: 22,487,288 (GRCm39)	R282G	probably damaging	Het
Ppp2r5d	A	G	17: 46,996,527 (GRCm39)	V382A	probably damaging	Het
Prdm16	T	C	4: 154,425,967 (GRCm39)	E606G	probably damaging	Het
Psg28	A	G	7: 18,164,509 (GRCm39)	Y68H	probably damaging	Het
Qpctl	C	A	7: 18,882,944 (GRCm39)	W56L	probably damaging	Het
Rab11fip5	G	A	6: 85,319,137 (GRCm39)	P584L	probably damaging	Het
Sde2	C	T	1: 180,678,843 (GRCm39)	H36Y	probably benign	Het
Sema4d	T	C	13: 51,856,872 (GRCm39)	S787G	probably benign	Het
Sgca	C	T	11: 94,864,014 (GRCm39)		probably null	Het
Shroom3	A	G	5: 93,090,463 (GRCm39)	E1071G	probably damaging	Het
Skint5	A	G	4: 113,437,679 (GRCm39)		probably null	Het
Slc44a3	T	A	3: 121,319,411 (GRCm39)	D110V	probably benign	Het
Slc4a4	A	C	5: 89,082,433 (GRCm39)		probably benign	Het
Slc4a8	A	G	15: 100,688,857 (GRCm39)	D389G	probably damaging	Het
Sp3	C	G	2: 72,809,953 (GRCm39)	E11Q	probably benign	Het
Srrm2	A	G	17: 24,037,198 (GRCm39)	S1281G	unknown	Het
Tat	A	T	8: 110,723,459 (GRCm39)	I316F	probably benign	Het
Thoc5	A	G	11: 4,865,563 (GRCm39)	T381A	probably benign	Het
Tiam1	T	C	16: 89,681,826 (GRCm39)	Y384C	probably damaging	Het
Tmem45a	A	T	16: 56,632,026 (GRCm39)	F197L	probably damaging	Het
Trav8d-1	A	G	14: 53,016,435 (GRCm39)	Y107C	probably damaging	Het
Trim10	T	A	17: 37,187,846 (GRCm39)	V354D	probably damaging	Het
Unc45b	A	T	11: 82,831,013 (GRCm39)		probably null	Het
Unc79	A	G	12: 103,078,765 (GRCm39)	I1643M	probably benign	Het
Unc80	G	T	1: 66,560,725 (GRCm39)	G818*	probably null	Het
Usp15	A	T	10: 122,966,910 (GRCm39)	M470K	possibly damaging	Het
Vldlr	T	C	19: 27,212,241 (GRCm39)	V85A	probably benign	Het
Vma21-ps	A	G	4: 52,496,994 (GRCm39)	V84A	probably benign	Het
Vmn2r67	C	T	7: 84,785,774 (GRCm39)	V744I	possibly damaging	Het
Wdr73	A	G	7: 80,542,946 (GRCm39)	C221R	probably benign	Het
Zxdc	C	T	6: 90,355,819 (GRCm39)	H443Y	probably damaging	Het

Other mutations in F13a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01304:F13a1	APN	13	37,172,852 (GRCm39)	missense	probably benign	0.11
IGL01444:F13a1	APN	13	37,102,551 (GRCm39)	missense	probably null	1.00
IGL02188:F13a1	APN	13	37,090,035 (GRCm39)	splice site	probably benign
IGL02591:F13a1	APN	13	37,082,031 (GRCm39)	missense	probably damaging	1.00
IGL02660:F13a1	APN	13	37,127,868 (GRCm39)	missense	possibly damaging	0.92
IGL03244:F13a1	APN	13	37,172,870 (GRCm39)	missense	possibly damaging	0.82
IGL03401:F13a1	APN	13	37,082,054 (GRCm39)	missense	probably benign	0.00
F6893:F13a1	UTSW	13	37,155,999 (GRCm39)	missense	probably damaging	1.00
R0082:F13a1	UTSW	13	37,172,927 (GRCm39)	missense	probably damaging	0.99
R0657:F13a1	UTSW	13	37,152,079 (GRCm39)	missense	probably damaging	0.96
R1225:F13a1	UTSW	13	37,209,825 (GRCm39)	missense	probably benign
R1430:F13a1	UTSW	13	37,082,105 (GRCm39)	missense	probably damaging	1.00
R1608:F13a1	UTSW	13	37,052,785 (GRCm39)	missense	probably damaging	1.00
R1883:F13a1	UTSW	13	37,172,981 (GRCm39)	missense	probably benign	0.01
R2115:F13a1	UTSW	13	37,172,831 (GRCm39)	missense	probably damaging	1.00
R2121:F13a1	UTSW	13	37,209,653 (GRCm39)	missense	probably benign	0.01
R2122:F13a1	UTSW	13	37,209,653 (GRCm39)	missense	probably benign	0.01
R2125:F13a1	UTSW	13	37,076,815 (GRCm39)	missense	probably benign	0.15
R2392:F13a1	UTSW	13	37,127,971 (GRCm39)	missense	possibly damaging	0.65
R3618:F13a1	UTSW	13	37,127,967 (GRCm39)	missense	probably damaging	1.00
R3625:F13a1	UTSW	13	37,082,067 (GRCm39)	missense	probably benign	0.31
R3772:F13a1	UTSW	13	37,082,108 (GRCm39)	missense	probably benign
R3838:F13a1	UTSW	13	37,231,398 (GRCm39)	missense	probably damaging	1.00
R3857:F13a1	UTSW	13	37,209,668 (GRCm39)	missense	probably benign	0.32
R3937:F13a1	UTSW	13	37,100,875 (GRCm39)	missense	probably damaging	1.00
R4934:F13a1	UTSW	13	37,061,736 (GRCm39)	missense	probably benign	0.00
R4974:F13a1	UTSW	13	37,100,837 (GRCm39)	critical splice donor site	probably null
R5033:F13a1	UTSW	13	37,172,830 (GRCm39)	missense	probably damaging	1.00
R5194:F13a1	UTSW	13	37,156,037 (GRCm39)	missense	probably damaging	1.00
R5740:F13a1	UTSW	13	37,082,178 (GRCm39)	missense	probably benign	0.02
R5753:F13a1	UTSW	13	37,082,082 (GRCm39)	nonsense	probably null
R6188:F13a1	UTSW	13	37,209,752 (GRCm39)	missense	probably benign	0.12
R7048:F13a1	UTSW	13	37,082,117 (GRCm39)	missense	probably benign	0.02
R7816:F13a1	UTSW	13	37,209,745 (GRCm39)	missense	probably benign	0.00
R7843:F13a1	UTSW	13	37,209,745 (GRCm39)	missense	probably benign	0.00
R7902:F13a1	UTSW	13	37,172,913 (GRCm39)	missense	probably damaging	1.00
R8124:F13a1	UTSW	13	37,209,779 (GRCm39)	missense	probably damaging	1.00
R8443:F13a1	UTSW	13	37,209,692 (GRCm39)	missense	probably damaging	1.00
R8856:F13a1	UTSW	13	37,100,859 (GRCm39)	missense	probably damaging	1.00
R8864:F13a1	UTSW	13	37,061,753 (GRCm39)	missense	probably damaging	1.00
R9026:F13a1	UTSW	13	37,102,506 (GRCm39)	missense	probably null	1.00
R9092:F13a1	UTSW	13	37,089,993 (GRCm39)	missense	probably benign	0.17
R9268:F13a1	UTSW	13	37,076,910 (GRCm39)	missense	probably benign	0.00
R9274:F13a1	UTSW	13	37,052,761 (GRCm39)	missense	probably damaging	1.00
R9497:F13a1	UTSW	13	37,082,118 (GRCm39)	missense	probably benign	0.05
R9645:F13a1	UTSW	13	37,082,154 (GRCm39)	missense	probably benign
Z1088:F13a1	UTSW	13	37,172,986 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGCGTTAAGTAGGAATTGCGTTTAG -3'
(R):5'- GCATTTAGGCAAAGTCAGTGG -3'

Sequencing Primer
(F):5'- AGCAACCTGGTGTCTAAC -3'
(R):5'- TTTAGGCAAAGTCAGTGGTGAAGC -3'

Posted On

2019-06-26