Mutagenetix > Incidental Mutation

Incidental Mutation 'R8864:F13a1'

675822

Institutional Source

Beutler Lab

Gene Symbol

F13a1

Ensembl Gene

ENSMUSG00000039109

Gene Name

coagulation factor XIII, A1 subunit

Synonyms

Factor XIIIA, 1200014I03Rik

MMRRC Submission

Accession Numbers

Genbank: NM_028784; MGI: 1921395

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8864 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36867178-37050244 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36877779 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 670 (G670D)

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: G670D

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

SMART Domains

Protein: ENSMUSP00000048667
Gene: ENSMUSG00000039109
AA Change: G670D

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: G670D

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

SMART Domains

Protein: ENSMUSP00000128316
Gene: ENSMUSG00000039109
AA Change: G670D

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: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (41/41)

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	A	18: 58,890,425	C297*	probably null	Het
Adamts3	T	C	5: 89,707,122		probably benign	Het
Best2	T	A	8: 85,009,313	M331L	probably benign	Het
Cachd1	T	A	4: 100,994,829	S1207R	probably damaging	Het
Cacna2d3	G	T	14: 29,333,778	N298K	probably damaging	Het
Cyp2j12	T	C	4: 96,121,513	Y203C	probably damaging	Het
Dnah8	T	C	17: 30,762,642	I3046T	possibly damaging	Het
Eif3b	T	C	5: 140,426,532	V252A	probably benign	Het
Ergic2	A	G	6: 148,181,895	V355A	probably benign	Het
Gfpt1	T	A	6: 87,054,623	D82E	probably benign	Het
Ggnbp2	G	A	11: 84,840,076	R376C	probably damaging	Het
Gm30302	T	C	13: 49,787,512	N241D	probably benign	Het
Grn	T	C	11: 102,436,385	F191L	unknown	Het
Ighv1-16	C	T	12: 114,665,999	G56D	probably benign	Het
Jrkl	T	C	9: 13,244,321	D445G	probably benign	Het
Loxl3	A	G	6: 83,035,758	T93A	probably damaging	Het
Lrp1b	C	T	2: 41,112,706	A2094T		Het
Lrriq3	T	A	3: 155,187,938	D425E	probably damaging	Het
Majin	T	C	19: 6,211,620	V55A	possibly damaging	Het
Mapk8ip3	A	T	17: 24,899,518	V1192E	probably damaging	Het
Mdga1	T	C	17: 29,931,321	S106G	unknown	Het
Mtch2	C	T	2: 90,854,930	R135*	probably null	Het
Naip1	T	C	13: 100,426,320	N779S	possibly damaging	Het
Nfia	T	C	4: 98,063,145	V403A	possibly damaging	Het
Npas4	C	A	19: 4,988,528	D121Y	probably damaging	Het
Rab3gap1	C	T	1: 127,909,893	R231W	probably damaging	Het
Rangap1	C	G	15: 81,726,069		probably benign	Het
Rgs5	T	A	1: 169,690,421	F75I	probably benign	Het
Rnf19a	T	C	15: 36,265,306	D215G	possibly damaging	Het
Rwdd4a	A	T	8: 47,547,841		probably benign	Het
Setd5	G	A	6: 113,111,508	R199H	probably damaging	Het
Spef2	T	C	15: 9,599,747	Q2004R	unknown	Het
Syne1	T	C	10: 5,420,473	K236E	probably benign	Het
Tas2r104	A	G	6: 131,685,669	F26L	possibly damaging	Het
Tbc1d32	T	A	10: 56,087,559	E954D	probably benign	Het
Tenm2	A	C	11: 36,027,195	S1914A	possibly damaging	Het
Tln2	G	T	9: 67,330,552	Y32*	probably null	Het
Tnc	C	T	4: 63,993,059	R1425H	probably damaging	Het
Unc13b	T	C	4: 43,174,724	C1851R	unknown	Het
Wapl	T	A	14: 34,692,202	D340E	probably benign	Het
Zfp74	T	C	7: 29,934,810	E491G	probably damaging	Het

Other mutations in F13a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01304:F13a1	APN	13	36988878	missense	probably benign	0.11
IGL01444:F13a1	APN	13	36918577	missense	probably null	1.00
IGL02188:F13a1	APN	13	36906061	splice site	probably benign
IGL02591:F13a1	APN	13	36898057	missense	probably damaging	1.00
IGL02660:F13a1	APN	13	36943894	missense	possibly damaging	0.92
IGL03244:F13a1	APN	13	36988896	missense	possibly damaging	0.82
IGL03401:F13a1	APN	13	36898080	missense	probably benign	0.00
F6893:F13a1	UTSW	13	36972025	missense	probably damaging	1.00
R0082:F13a1	UTSW	13	36988953	missense	probably damaging	0.99
R0657:F13a1	UTSW	13	36968105	missense	probably damaging	0.96
R1225:F13a1	UTSW	13	37025851	missense	probably benign
R1430:F13a1	UTSW	13	36898131	missense	probably damaging	1.00
R1608:F13a1	UTSW	13	36868811	missense	probably damaging	1.00
R1883:F13a1	UTSW	13	36989007	missense	probably benign	0.01
R2115:F13a1	UTSW	13	36988857	missense	probably damaging	1.00
R2121:F13a1	UTSW	13	37025679	missense	probably benign	0.01
R2122:F13a1	UTSW	13	37025679	missense	probably benign	0.01
R2125:F13a1	UTSW	13	36892841	missense	probably benign	0.15
R2392:F13a1	UTSW	13	36943997	missense	possibly damaging	0.65
R3618:F13a1	UTSW	13	36943993	missense	probably damaging	1.00
R3625:F13a1	UTSW	13	36898093	missense	probably benign	0.31
R3772:F13a1	UTSW	13	36898134	missense	probably benign
R3838:F13a1	UTSW	13	37047424	missense	probably damaging	1.00
R3857:F13a1	UTSW	13	37025694	missense	probably benign	0.32
R3937:F13a1	UTSW	13	36916901	missense	probably damaging	1.00
R4934:F13a1	UTSW	13	36877762	missense	probably benign	0.00
R4974:F13a1	UTSW	13	36916863	critical splice donor site	probably null
R5033:F13a1	UTSW	13	36988856	missense	probably damaging	1.00
R5194:F13a1	UTSW	13	36972063	missense	probably damaging	1.00
R5740:F13a1	UTSW	13	36898204	missense	probably benign	0.02
R5753:F13a1	UTSW	13	36898108	nonsense	probably null
R6188:F13a1	UTSW	13	37025778	missense	probably benign	0.12
R7048:F13a1	UTSW	13	36898143	missense	probably benign	0.02
R7197:F13a1	UTSW	13	36916886	missense	probably damaging	1.00
R7816:F13a1	UTSW	13	37025771	missense	probably benign	0.00
R7843:F13a1	UTSW	13	37025771	missense	probably benign	0.00
R7902:F13a1	UTSW	13	36988939	missense	probably damaging	1.00
R8124:F13a1	UTSW	13	37025805	missense	probably damaging	1.00
R8443:F13a1	UTSW	13	37025718	missense	probably damaging	1.00
R8856:F13a1	UTSW	13	36916885	missense	probably damaging	1.00
R9026:F13a1	UTSW	13	36918532	missense	probably null	1.00
R9092:F13a1	UTSW	13	36906019	missense	probably benign	0.17
R9268:F13a1	UTSW	13	36892936	missense	probably benign	0.00
R9274:F13a1	UTSW	13	36868787	missense	probably damaging	1.00
R9497:F13a1	UTSW	13	36898144	missense	probably benign	0.05
R9645:F13a1	UTSW	13	36898180	missense	probably benign
Z1088:F13a1	UTSW	13	36989012	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGTGTTAGACCCACCCTGTTTC -3'
(R):5'- TTGCTGAGAAGTAACCACACTG -3'

Sequencing Primer
(F):5'- CTATCTATCGATGTAAGAGATAGGCG -3'
(R):5'- GCTGAGAAGTAACCACACTGTAAAAC -3'

Posted On

2021-07-15