Mutagenetix > Incidental Mutation

Incidental Mutation 'R3772:F13a1'

273379

Institutional Source

Beutler Lab

Gene Symbol

F13a1

Ensembl Gene

ENSMUSG00000039109

Gene Name

coagulation factor XIII, A1 subunit

Synonyms

Factor XIIIA, 1200014I03Rik

MMRRC Submission

040748-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3772 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37051152-37234220 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37082108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 532 (K532R)

Ref Sequence

ENSEMBL: ENSMUSP00000128316 (fasta)

Gene Model

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

AlphaFold

Q8BH61

Predicted Effect

probably benign
Transcript: ENSMUST00000037491
AA Change: K532R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000048667
Gene: ENSMUSG00000039109
AA Change: K532R

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 benign
Transcript: ENSMUST00000164727
AA Change: K532R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000128316
Gene: ENSMUSG00000039109
AA Change: K532R

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

Meta Mutation Damage Score

0.1156

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (77/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	A	2: 69,159,720 (GRCm39)		probably benign	Het
Adgrl1	A	G	8: 84,649,633 (GRCm39)	N97S	possibly damaging	Het
Aldh1a2	A	G	9: 71,160,202 (GRCm39)	D76G	probably damaging	Het
Aldh3a1	A	G	11: 61,105,431 (GRCm39)	E179G	possibly damaging	Het
Ap1g1	A	G	8: 110,564,418 (GRCm39)	D324G	probably damaging	Het
Arfgap2	A	G	2: 91,095,711 (GRCm39)	T12A	probably benign	Het
Aurka	A	G	2: 172,208,880 (GRCm39)	L85P	probably benign	Het
Birc6	T	A	17: 74,925,424 (GRCm39)		probably benign	Het
Bmp7	A	T	2: 172,712,015 (GRCm39)	I403N	probably damaging	Het
Carns1	A	G	19: 4,220,915 (GRCm39)		probably benign	Het
Ccdc88c	G	A	12: 100,932,359 (GRCm39)		probably benign	Het
Ccl2	C	T	11: 81,927,784 (GRCm39)	A76V	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Clstn2	A	G	9: 97,464,615 (GRCm39)	I180T	probably damaging	Het
Col24a1	T	C	3: 145,251,041 (GRCm39)	L1680P	probably damaging	Het
Col4a6	C	A	X: 139,955,196 (GRCm39)	G1416C	probably damaging	Het
Ctnna2	T	G	6: 76,950,752 (GRCm39)	N573T	probably damaging	Het
Cts8	G	A	13: 61,398,715 (GRCm39)		probably benign	Het
Cxcl17	A	G	7: 25,099,754 (GRCm39)		probably benign	Het
Defb18	T	C	1: 18,306,845 (GRCm39)	H37R	possibly damaging	Het
Dis3l2	T	C	1: 86,782,130 (GRCm39)	I229T	probably benign	Het
Dysf	G	A	6: 84,129,333 (GRCm39)	S1474N	possibly damaging	Het
Elf1	T	C	14: 79,804,650 (GRCm39)	V105A	possibly damaging	Het
Fmn1	T	G	2: 113,412,463 (GRCm39)	S996A	probably damaging	Het
Focad	A	C	4: 88,254,398 (GRCm39)		probably benign	Het
Frmd4a	A	T	2: 4,595,433 (GRCm39)	E109D	probably damaging	Het
Frrs1	T	G	3: 116,672,036 (GRCm39)	S45A	possibly damaging	Het
Gm5422	T	A	10: 31,124,510 (GRCm39)		noncoding transcript	Het
Gm5866	T	C	5: 52,740,088 (GRCm39)		noncoding transcript	Het
Hmcn2	C	T	2: 31,250,908 (GRCm39)	T790M	probably damaging	Het
Iglon5	A	T	7: 43,130,037 (GRCm39)	Y42*	probably null	Het
Khdrbs2	C	T	1: 32,283,157 (GRCm39)	Q90*	probably null	Het
Krt74	T	C	15: 101,670,630 (GRCm39)		noncoding transcript	Het
Lamc2	T	A	1: 152,999,997 (GRCm39)	M1121L	probably benign	Het
Lrig1	A	G	6: 94,582,798 (GRCm39)	L1073P	probably benign	Het
Lrp5	G	A	19: 3,662,330 (GRCm39)	R173C	probably damaging	Het
Man2c1	C	A	9: 57,047,661 (GRCm39)		probably benign	Het
Megf10	G	A	18: 57,416,934 (GRCm39)	D768N	probably benign	Het
Mycbp2	T	C	14: 103,371,224 (GRCm39)	N4108S	possibly damaging	Het
Nid1	A	G	13: 13,651,003 (GRCm39)		probably benign	Het
Nnt	A	G	13: 119,533,488 (GRCm39)	V59A	probably damaging	Het
Nsd1	G	A	13: 55,394,486 (GRCm39)	V696I	probably benign	Het
Or1o4	T	C	17: 37,590,745 (GRCm39)	T189A	probably benign	Het
Pag1	G	A	3: 9,764,688 (GRCm39)	T155M	probably benign	Het
Pgam5	T	C	5: 110,413,459 (GRCm39)	H176R	probably damaging	Het
Pid1	T	C	1: 84,015,918 (GRCm39)	D149G	probably damaging	Het
Pkp3	G	A	7: 140,662,259 (GRCm39)	M1I	probably null	Het
Pld2	C	T	11: 70,434,949 (GRCm39)		probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ptprs	T	C	17: 56,735,978 (GRCm39)	T152A	possibly damaging	Het
Rab9b	T	A	X: 135,762,198 (GRCm39)	E67D	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnf214	T	C	9: 45,777,932 (GRCm39)	M625V	possibly damaging	Het
Rwdd2a	A	C	9: 86,456,214 (GRCm39)	N130T	possibly damaging	Het
Scn9a	T	C	2: 66,313,992 (GRCm39)	N1909D	probably benign	Het
Septin10	A	T	10: 59,012,709 (GRCm39)	M303K	probably damaging	Het
Sez6l2	A	G	7: 126,558,375 (GRCm39)	E339G	probably damaging	Het
Sf3b1	C	A	1: 55,039,150 (GRCm39)		probably benign	Het
Shisal1	A	T	15: 84,290,886 (GRCm39)	Y120*	probably null	Het
Ska3	C	T	14: 58,047,534 (GRCm39)	V334I	probably benign	Het
Srebf2	A	G	15: 82,066,309 (GRCm39)	K579R	probably benign	Het
St18	A	T	1: 6,914,553 (GRCm39)	K799I	probably damaging	Het
Strada	C	T	11: 106,055,648 (GRCm39)	R333Q	probably damaging	Het
Stradb	A	T	1: 59,024,544 (GRCm39)	I64L	probably benign	Het
Sun1	A	G	5: 139,224,575 (GRCm39)		probably benign	Het
Tecta	T	C	9: 42,242,292 (GRCm39)	T2094A	probably damaging	Het
Tenm4	A	T	7: 96,344,087 (GRCm39)	R227W	probably damaging	Het
Tnk2	A	G	16: 32,498,640 (GRCm39)	D651G	probably damaging	Het
Trim43c	A	T	9: 88,729,810 (GRCm39)	D417V	probably damaging	Het
Tsc22d4	T	C	5: 137,757,495 (GRCm39)	L374P	possibly damaging	Het
Ttn	T	C	2: 76,601,711 (GRCm39)	T16872A	probably benign	Het
Ubr4	T	C	4: 139,180,011 (GRCm39)	V262A	possibly damaging	Het
Vmn2r60	A	T	7: 41,765,980 (GRCm39)	N29I	probably benign	Het
Xrn2	T	C	2: 146,903,207 (GRCm39)	V765A	probably benign	Het
Zbed4	C	T	15: 88,664,990 (GRCm39)	P353S	probably benign	Het
Zfp251	A	G	15: 76,737,836 (GRCm39)	I414T	possibly damaging	Het
Zfp426	A	T	9: 20,384,413 (GRCm39)		probably null	Het
Zwilch	A	T	9: 64,063,316 (GRCm39)	F286I	probably benign	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
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
R7197:F13a1	UTSW	13	37,100,860 (GRCm39)	missense	probably damaging	1.00
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'- ATAGAACCAGGCGACAAGTC -3'
(R):5'- GCATTTCAGGTCAGTGTCTTCC -3'

Sequencing Primer
(F):5'- CTGGAGAGACCCACACATTAGTTAG -3'
(R):5'- AGGTCAGTGTCTTCCCCATGG -3'

Posted On

2015-03-25