Mutagenetix > Incidental Mutation

Incidental Mutation 'R5033:F13a1'

389397

Institutional Source

Beutler Lab

Gene Symbol

F13a1

Ensembl Gene

ENSMUSG00000039109

Gene Name

coagulation factor XIII, A1 subunit

Synonyms

Factor XIIIA, 1200014I03Rik

MMRRC Submission

042624-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5033 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37051152-37234220 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 37172830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 183 (I183M)

Ref Sequence

ENSEMBL: ENSMUSP00000128316 (fasta)

Gene Model

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

AlphaFold

Q8BH61

Predicted Effect

probably damaging
Transcript: ENSMUST00000037491
AA Change: I183M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000048667
Gene: ENSMUSG00000039109
AA Change: I183M

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: I183M

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000128316
Gene: ENSMUSG00000039109
AA Change: I183M

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: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
9930111J21Rik1	G	A	11: 48,838,533 (GRCm39)	R685W	probably damaging	Het
Arhgap10	A	T	8: 78,109,386 (GRCm39)	L399H	probably damaging	Het
Arih2	AGCCG	AG	9: 108,488,859 (GRCm39)		probably benign	Het
Atp13a2	A	G	4: 140,728,132 (GRCm39)	H575R	possibly damaging	Het
Bbof1	G	A	12: 84,458,044 (GRCm39)		probably null	Het
Bltp3a	A	G	17: 28,105,838 (GRCm39)	E788G	probably damaging	Het
Catsperg2	A	C	7: 29,409,559 (GRCm39)	Y545D	possibly damaging	Het
Cdc42bpa	T	A	1: 179,892,580 (GRCm39)	I248N	probably damaging	Het
Cdk11b	A	T	4: 155,733,282 (GRCm39)		probably benign	Het
Cfap46	C	A	7: 139,183,776 (GRCm39)	L90F	probably benign	Het
Cndp2	A	G	18: 84,688,954 (GRCm39)	L276P	possibly damaging	Het
Col3a1	A	C	1: 45,385,270 (GRCm39)	D129A	probably damaging	Het
Daam1	C	A	12: 71,993,294 (GRCm39)	H354Q	unknown	Het
Dnah5	T	A	15: 28,421,824 (GRCm39)	F3892Y	probably damaging	Het
Dnajb3	A	G	1: 88,132,745 (GRCm39)	V219A	possibly damaging	Het
Drd5	A	G	5: 38,477,544 (GRCm39)	H179R	probably damaging	Het
Dym	A	G	18: 75,252,232 (GRCm39)	N333D	possibly damaging	Het
Eif2b3	A	G	4: 116,909,933 (GRCm39)	D156G	probably damaging	Het
Emc1	A	G	4: 139,099,007 (GRCm39)	D830G	probably damaging	Het
Fam136b-ps	T	A	15: 31,277,043 (GRCm39)		probably benign	Het
Fdft1	C	A	14: 63,400,853 (GRCm39)	K93N	probably damaging	Het
Garre1	C	T	7: 33,945,237 (GRCm39)	G336S	probably benign	Het
Gcc2	A	G	10: 58,114,628 (GRCm39)	D959G	probably damaging	Het
Gp2	A	G	7: 119,053,514 (GRCm39)	V149A	probably damaging	Het
Gpc1	G	A	1: 92,784,751 (GRCm39)	G308D	probably damaging	Het
Hdac9	A	T	12: 34,423,906 (GRCm39)	C587S	probably benign	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Iars2	A	G	1: 185,050,125 (GRCm39)	V453A	possibly damaging	Het
Il1r1	T	G	1: 40,332,684 (GRCm39)	C121W	probably damaging	Het
Inhca	A	G	9: 103,156,613 (GRCm39)	V149A	probably benign	Het
Jazf1	A	G	6: 52,754,525 (GRCm39)	Y184H	probably damaging	Het
Kel	A	T	6: 41,675,989 (GRCm39)	Y234N	probably damaging	Het
Khk	G	A	5: 31,087,004 (GRCm39)	G186D	probably damaging	Het
Klf4	A	T	4: 55,530,301 (GRCm39)	M270K	probably benign	Het
Kmt2c	G	A	5: 25,519,706 (GRCm39)	L2135F	probably benign	Het
Krtap15-1	A	G	16: 88,626,044 (GRCm39)	Y37C	probably damaging	Het
Lars1	A	G	18: 42,347,841 (GRCm39)	F994S	possibly damaging	Het
Ldc1	C	T	4: 130,115,408 (GRCm39)		probably null	Het
Lrp8	T	C	4: 107,691,952 (GRCm39)		probably null	Het
Lrrc2	A	T	9: 110,809,987 (GRCm39)	D341V	probably damaging	Het
Map4k4	A	G	1: 40,046,662 (GRCm39)	K646R	probably damaging	Het
Mrps9	T	A	1: 42,934,491 (GRCm39)		probably null	Het
Or10ag60	T	A	2: 87,438,055 (GRCm39)	C108S	probably damaging	Het
Or11h6	T	A	14: 50,880,619 (GRCm39)	Y288N	probably damaging	Het
Or8c20	C	T	9: 38,260,924 (GRCm39)	H176Y	probably damaging	Het
Pcnt	A	T	10: 76,235,779 (GRCm39)	C1401S	possibly damaging	Het
Pdgfrb	A	T	18: 61,210,740 (GRCm39)	K749M	probably damaging	Het
Pigo	A	T	4: 43,019,412 (GRCm39)	W969R	probably null	Het
Pigr	A	T	1: 130,772,436 (GRCm39)	Y218F	probably damaging	Het
Pih1d1	A	G	7: 44,804,278 (GRCm39)		probably benign	Het
Pik3cg	A	T	12: 32,249,195 (GRCm39)		probably null	Het
Pik3r6	A	T	11: 68,424,294 (GRCm39)	K300*	probably null	Het
Pip5k1c	A	G	10: 81,141,084 (GRCm39)	D64G	probably damaging	Het
Piwil2	A	T	14: 70,659,042 (GRCm39)	I161K	possibly damaging	Het
Pou3f1	A	G	4: 124,552,449 (GRCm39)	E317G	probably damaging	Het
Prdm8	C	T	5: 98,333,071 (GRCm39)	Q213*	probably null	Het
Prpf6	T	A	2: 181,291,899 (GRCm39)	C739S	possibly damaging	Het
Psmc3	T	A	2: 90,884,953 (GRCm39)	S40T	probably benign	Het
Psmd3	A	T	11: 98,573,650 (GRCm39)	D32V	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rapgef6	A	T	11: 54,582,207 (GRCm39)	H1373L	possibly damaging	Het
Rnf207	A	C	4: 152,397,666 (GRCm39)	S328A	probably benign	Het
Ros1	C	T	10: 52,004,512 (GRCm39)		probably null	Het
Ryr2	T	A	13: 11,602,140 (GRCm39)	I4581F	possibly damaging	Het
Sacm1l	C	T	9: 123,415,464 (GRCm39)	R480W	probably damaging	Het
Sec16a	A	G	2: 26,309,661 (GRCm39)	V664A	probably benign	Het
Selenoo	T	A	15: 88,976,969 (GRCm39)	M207K	probably damaging	Het
Sh3tc2	G	A	18: 62,147,962 (GRCm39)		probably null	Het
Slc28a2b	T	A	2: 122,353,395 (GRCm39)		probably null	Het
Slco2b1	G	T	7: 99,309,256 (GRCm39)	Q692K	probably benign	Het
Slfn4	A	T	11: 83,077,623 (GRCm39)	D137V	probably damaging	Het
Srrm2	G	A	17: 24,039,592 (GRCm39)	A2175T	probably damaging	Het
Stard9	T	A	2: 120,523,880 (GRCm39)	C692S	probably benign	Het
Sulf2	T	A	2: 165,923,542 (GRCm39)	D559V	probably benign	Het
Tbpl2	T	C	2: 23,977,170 (GRCm39)	I283V	probably benign	Het
Tmem19	A	G	10: 115,195,666 (GRCm39)	F46S	probably benign	Het
Trp63	T	A	16: 25,582,056 (GRCm39)	Y35N	probably damaging	Het
Ttn	T	A	2: 76,716,786 (GRCm39)		probably benign	Het
Ube2z	A	T	11: 95,941,148 (GRCm39)	H331Q	probably benign	Het
Ubr1	C	T	2: 120,742,478 (GRCm39)		probably null	Het
Vmn1r235	A	T	17: 21,482,550 (GRCm39)	I292F	possibly damaging	Het
Vmn2r1	T	A	3: 64,012,501 (GRCm39)	D787E	probably damaging	Het
Vmn2r3	A	G	3: 64,167,220 (GRCm39)	V637A	probably benign	Het
Xpnpep1	C	A	19: 52,994,606 (GRCm39)	V341L	probably benign	Het
Yme1l1	A	G	2: 23,084,759 (GRCm39)	D619G	probably damaging	Het
Zfp597	G	A	16: 3,684,502 (GRCm39)	P85S	probably damaging	Het
Zscan20	A	G	4: 128,479,921 (GRCm39)	S857P	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
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
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'- GTCTTGAGAAAACAGTGTACGTCAG -3'
(R):5'- GCCTGTAGTGAAAGAGCTGC -3'

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

Posted On

2016-06-06