Mutagenetix > Incidental Mutations

Incidental Mutation 'R3838:F13a1'

277014

Institutional Source

Beutler Lab

Gene Symbol

F13a1

Ensembl Gene

ENSMUSG00000039109

Gene Name

coagulation factor XIII, A1 subunit

Synonyms

Factor XIIIA, 1200014I03Rik

MMRRC Submission

040779-MU

Accession Numbers

Genbank: NM_028784; MGI: 1921395

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3838 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36867178-37050244 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37047424 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 21 (N21K)

Ref Sequence

ENSEMBL: ENSMUSP00000128316 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000037491
AA Change: N21K

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

SMART Domains

Protein: ENSMUSP00000048667
Gene: ENSMUSG00000039109
AA Change: N21K

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: N21K

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

SMART Domains

Protein: ENSMUSP00000128316
Gene: ENSMUSG00000039109
AA Change: N21K

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

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.8%
20x: 96.4%

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700042G07Rik	A	G	4: 116,173,521	T41A	probably benign	Het
4930486L24Rik	A	G	13: 60,845,227	Y213H	probably damaging	Het
Alg8	C	T	7: 97,388,545	H379Y	probably damaging	Het
Arhgef25	T	C	10: 127,189,736	T12A	probably benign	Het
Arid4a	A	G	12: 71,075,785	E980G	possibly damaging	Het
Aspm	C	T	1: 139,478,054	H1560Y	probably benign	Het
Atg10	A	T	13: 90,937,380	I150K	probably damaging	Het
Bud13	A	C	9: 46,290,192	Q387P	possibly damaging	Het
Champ1	A	G	8: 13,879,939	Y699C	probably damaging	Het
Clstn1	A	G	4: 149,638,333	E476G	probably damaging	Het
Col2a1	T	C	15: 97,988,976	D345G	unknown	Het
Col2a1	A	T	15: 98,000,581		probably benign	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
Dnajb2	G	A	1: 75,241,480		probably null	Het
Dock4	G	T	12: 40,794,624		probably null	Het
Epx	A	T	11: 87,874,830	L101Q	probably damaging	Het
Fam13c	C	T	10: 70,542,648	S336L	probably damaging	Het
Fam35a	T	C	14: 34,245,368	D77G	probably benign	Het
Foxj3	T	A	4: 119,616,624	H215Q	possibly damaging	Het
Gcnt4	A	T	13: 96,947,014	R273*	probably null	Het
Gpam	T	C	19: 55,080,458	N450S	probably benign	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Hmcn2	T	C	2: 31,413,407	L3020P	probably damaging	Het
Hmgcr	A	G	13: 96,659,089	I324T	probably benign	Het
Ighmbp2	T	C	19: 3,271,658	Y367C	probably benign	Het
Lrrc14b	A	G	13: 74,363,545	C139R	possibly damaging	Het
Lsamp	A	T	16: 42,134,312	E174V	possibly damaging	Het
Mid1ip1	T	C	X: 10,718,381	V51A	possibly damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Msn	C	A	X: 96,160,199	Q303K	probably damaging	Het
Myh7b	A	G	2: 155,632,989	K1816E	probably damaging	Het
Nap1l1	T	A	10: 111,495,322		probably null	Het
Nme2	T	A	11: 93,949,977	E252D	probably benign	Het
Ntpcr	G	A	8: 125,737,372	V79M	probably damaging	Het
Ogdh	C	T	11: 6,338,627	R235*	probably null	Het
Olfr1490	A	G	19: 13,654,957	D176G	probably benign	Het
Olfr825	C	A	10: 130,162,406	E307*	probably null	Het
Olfr959	A	G	9: 39,572,971	V96A	probably benign	Het
Pcdh20	T	C	14: 88,468,463	N467S	probably benign	Het
Pkhd1	G	A	1: 20,534,629	T1154I	possibly damaging	Het
Polq	G	T	16: 37,078,349	R2157I	probably damaging	Het
Reep6	C	A	10: 80,335,889	A533E	probably damaging	Het
Senp2	T	C	16: 22,009,735	S32P	probably damaging	Het
Sept11	T	A	5: 93,148,399	I52N	probably damaging	Het
Slc17a4	C	T	13: 23,901,769	R387H	probably benign	Het
Spdye4b	C	T	5: 143,192,329	T11I	probably benign	Het
Srrt	C	T	5: 137,302,125		probably null	Het
Sspo	T	A	6: 48,480,820	C3085S	probably damaging	Het
Stim1	C	T	7: 102,411,296	T182I	possibly damaging	Het
Thbs2	C	A	17: 14,687,851	V217L	probably benign	Het
Thpo	G	A	16: 20,728,748	R38C	probably damaging	Het
Tmem210	A	G	2: 25,288,432	E35G	possibly damaging	Het
Trim12c	T	A	7: 104,340,868		probably benign	Het
Tvp23b	A	G	11: 62,883,629	H33R	possibly damaging	Het
Usp14	A	G	18: 10,024,532		probably null	Het
Vmn2r73	A	G	7: 85,858,050	W685R	probably benign	Het
Zfp618	G	A	4: 63,133,564	A861T	probably benign	Het
Zfp715	A	G	7: 43,299,756	V260A	probably benign	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
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
Z1088:F13a1	UTSW	13	36989012	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTACAGCTTGGGTTTTGGAGAC -3'
(R):5'- GCCATGTACGGTTTGCATC -3'

Sequencing Primer
(F):5'- AGACTTTCTTAGGTGGGCAC -3'
(R):5'- GCATCTCTGCCTCTATTTTAGAATC -3'

Posted On

2015-04-06