Mutagenetix > Incidental Mutations

Incidental Mutation 'R2115:F13a1'

233060

Institutional Source

Beutler Lab

Gene Symbol

F13a1

Ensembl Gene

ENSMUSG00000039109

Gene Name

coagulation factor XIII, A1 subunit

Synonyms

Factor XIIIA, 1200014I03Rik

MMRRC Submission

040119-MU

Accession Numbers

Genbank: NM_028784; MGI: 1921395

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2115 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36867178-37050244 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36988857 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 183 (I183N)

Ref Sequence

ENSEMBL: ENSMUSP00000128316 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000037491
AA Change: I183N

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

SMART Domains

Protein: ENSMUSP00000048667
Gene: ENSMUSG00000039109
AA Change: I183N

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: I183N

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

SMART Domains

Protein: ENSMUSP00000128316
Gene: ENSMUSG00000039109
AA Change: I183N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224446

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224783

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225168

Meta Mutation Damage Score

0.4701

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (95/97)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030462N17Rik	T	C	18: 77,674,472	D48G	possibly damaging	Het
Aatk	T	C	11: 120,009,736	T1195A	probably benign	Het
Abca12	A	T	1: 71,244,771	N2547K	probably benign	Het
Abca16	A	C	7: 120,540,645	E1510A	probably damaging	Het
Adam5	A	G	8: 24,744,145		probably benign	Het
Akna	G	A	4: 63,395,160	P242L	probably benign	Het
Akr1b7	G	A	6: 34,418,994	A144T	possibly damaging	Het
Ankhd1	T	A	18: 36,634,308	S1167T	probably damaging	Het
Arf5	C	T	6: 28,424,784	Q71*	probably null	Het
Arl15	C	T	13: 113,967,660	S111F	probably damaging	Het
Atxn1l	C	T	8: 109,732,608	A341T	probably benign	Het
Birc7	C	A	2: 180,930,849	Q138K	possibly damaging	Het
Blvra	G	T	2: 127,086,069	E80*	probably null	Het
Ccdc148	T	C	2: 59,002,116	E188G	probably damaging	Het
Chad	C	T	11: 94,568,226	A318V	probably benign	Het
Cntfr	A	G	4: 41,663,534		probably null	Het
Dirc2	T	C	16: 35,697,939	D468G	probably benign	Het
Dnah17	C	T	11: 118,119,802	C230Y	probably benign	Het
Dnmt3l	C	A	10: 78,063,296	L110I	probably damaging	Het
Dusp11	T	C	6: 85,958,669	D74G	probably damaging	Het
Eif3m	T	C	2: 105,006,796	T61A	probably damaging	Het
Esyt1	T	A	10: 128,522,104	D212V	probably damaging	Het
Exoc4	T	A	6: 33,347,825	N351K	possibly damaging	Het
Fam83f	T	G	15: 80,692,267	V373G	possibly damaging	Het
Fam83h	A	T	15: 76,002,297	Y1064N	probably damaging	Het
Flrt3	G	T	2: 140,661,503	N68K	probably damaging	Het
Fut7	C	A	2: 25,425,331	Y153*	probably null	Het
Gm10277	TC	T	11: 77,786,002		probably null	Het
Gm1527	T	C	3: 28,917,949	L405P	probably benign	Het
Gm4981	T	C	10: 58,236,251	D47G	possibly damaging	Het
Heatr6	T	A	11: 83,757,455		probably benign	Het
Herc2	T	C	7: 56,185,828		probably benign	Het
Ints14	T	G	9: 64,979,795	L336R	probably damaging	Het
Irak1	G	T	X: 74,022,612	P197Q	possibly damaging	Het
Kat7	C	T	11: 95,303,294	R60Q	probably benign	Het
Katnal2	T	C	18: 76,980,091	R385G	probably damaging	Het
Kcnt2	G	T	1: 140,552,963	L755F	probably damaging	Het
Kif4	A	G	X: 100,665,717	S315G	probably benign	Het
Kifc3	A	G	8: 95,108,713	Y178H	probably damaging	Het
Krit1	A	T	5: 3,822,108	R378*	probably null	Het
L3mbtl1	T	A	2: 162,960,070		probably null	Het
Lama3	C	A	18: 12,402,849	T204N	possibly damaging	Het
Lama5	A	G	2: 180,186,885	C2090R	probably damaging	Het
Mb	G	T	15: 77,022,559	Q9K	probably benign	Het
Mipep	T	C	14: 60,787,380	V90A	probably damaging	Het
Myo3a	A	T	2: 22,245,531	I70F	probably damaging	Het
Napa	A	G	7: 16,114,209	D217G	possibly damaging	Het
Nectin2	T	C	7: 19,717,564	D515G	probably damaging	Het
Nkx2-6	T	A	14: 69,171,839	V13E	probably damaging	Het
Nmi	T	C	2: 51,948,707	T272A	probably benign	Het
Nptx2	G	C	5: 144,555,406	G331A	probably damaging	Het
Olfr1228	T	C	2: 89,249,530	I55V	probably damaging	Het
Olfr183	T	C	16: 59,000,420	L245P	possibly damaging	Het
Olfr450	A	G	6: 42,817,497	T9A	possibly damaging	Het
Olfr854	T	C	9: 19,567,322	T18A	probably benign	Het
Parp14	T	C	16: 35,858,534	T355A	probably benign	Het
Pcdh12	T	C	18: 38,283,986	T29A	probably damaging	Het
Pced1b	T	A	15: 97,384,624	C181*	probably null	Het
Phka1	C	T	X: 102,610,201	R290H	probably damaging	Het
Pick1	T	A	15: 79,255,581		probably benign	Het
Pitrm1	A	T	13: 6,557,773	Y268F	probably damaging	Het
Polr2h	T	C	16: 20,718,987		probably benign	Het
Ppfia2	A	T	10: 106,762,111	K178N	probably damaging	Het
Prkag1	T	C	15: 98,814,552	Y133C	probably damaging	Het
Ptk2	A	G	15: 73,242,406	V701A	possibly damaging	Het
Ptpra	G	T	2: 130,539,735	R372L	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Qrich2	A	G	11: 116,447,156	V1887A	probably damaging	Het
Ralgapa1	T	C	12: 55,786,349		probably null	Het
Rassf9	A	G	10: 102,544,945	T63A	probably benign	Het
Rdh11	G	T	12: 79,176,222	Q292K	probably benign	Het
Rere	C	A	4: 150,612,561		probably benign	Het
Rgs18	G	T	1: 144,753,891	T210K	possibly damaging	Het
Rnf213	A	G	11: 119,428,013	N1099S	probably benign	Het
Ros1	T	C	10: 52,128,555	I969V	probably benign	Het
Rrh	T	C	3: 129,810,687	I288M	probably damaging	Het
Rrp12	C	T	19: 41,891,094	V174I	probably benign	Het
Rtf1	T	A	2: 119,705,518	H184Q	probably benign	Het
Sbk3	A	G	7: 4,967,416	L318S	possibly damaging	Het
Scn9a	T	C	2: 66,484,052	E1774G	probably damaging	Het
Sec11c	A	T	18: 65,800,649	T9S	probably benign	Het
Sec23ip	G	A	7: 128,762,461	V488I	probably benign	Het
Serpine3	T	C	14: 62,673,010	L184P	probably damaging	Het
Slc26a2	T	C	18: 61,198,824	T512A	possibly damaging	Het
Smpd4	T	C	16: 17,626,865	Y118H	probably benign	Het
Tcof1	T	C	18: 60,832,785	E415G	possibly damaging	Het
Ttc33	G	A	15: 5,212,053	V120I	probably benign	Het
Usp20	T	A	2: 31,016,305	C562S	probably damaging	Het
Utp20	T	C	10: 88,786,003	D1136G	probably benign	Het
Vgll1	A	C	X: 57,092,430	K53T	probably damaging	Het
Yars	T	G	4: 129,207,923		probably null	Het
Zfp472	A	G	17: 32,978,014	I354M	possibly damaging	Het
Zfp786	A	G	6: 47,826,997	V37A	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
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
Z1088:F13a1	UTSW	13	36989012	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTTGAGAAAACAGTGTACGTCAG -3'
(R):5'- GCCTGTAGTGAAAGAGCTGC -3'

Sequencing Primer
(F):5'- TCCAAATGAGCTCTGGCATG -3'
(R):5'- CCTGTAGTGAAAGAGCTGCAAAGC -3'

Posted On

2014-09-18