Mutagenetix > Incidental Mutations

Incidental Mutation 'R5212:F13b'

403159

Institutional Source

Beutler Lab

Gene Symbol

F13b

Ensembl Gene

ENSMUSG00000026368

Gene Name

coagulation factor XIII, beta subunit

Synonyms

Cf-13b, Cf13b

MMRRC Submission

042786-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5212 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139501702-139523752 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 139512987 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 394 (I394F)

Ref Sequence

ENSEMBL: ENSMUSP00000027615 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027615]

Predicted Effect

probably benign
Transcript: ENSMUST00000027615
AA Change: I394F

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

SMART Domains

Protein: ENSMUSP00000027615
Gene: ENSMUSG00000026368
AA Change: I394F

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
CCP	26	88	1.26e-7	SMART
CCP	92	147	2.11e-9	SMART
CCP	154	209	9.83e-10	SMART
CCP	214	268	7.62e-16	SMART
CCP	275	328	8.62e-15	SMART
CCP	337	390	4.62e-15	SMART
CCP	397	451	3.5e-15	SMART
Blast:CCP	455	516	1e-28	BLAST
CCP	525	579	2.44e-14	SMART
Blast:CCP	583	647	1e-8	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141842

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (58/60)

MGI Phenotype

FUNCTION: This gene encodes subunit B of the coagulation factor XIII that catalyzes the final step of the blood coagulation pathway. The encoded protein associates with subunit A to form a heterotetrameric protein that circulates in the plasma. During the blood coagulation process, thrombin-mediated proteolytic cleavage of the subunit A results in the dissociation of the encoded protein from the heterotetramer. Male mice lacking the encoded protein exhibit mild fibrosis together with hemosiderin deposits in the heart. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a null mutation display increased bleeding time. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 138,065,850	S267T	possibly damaging	Het
Abca9	T	C	11: 110,107,226	D1514G	probably benign	Het
Adamtsl4	T	A	3: 95,677,670	D896V	probably damaging	Het
Amer2	A	G	14: 60,379,820	Y362C	probably damaging	Het
Arglu1	T	A	8: 8,683,843	R158W	probably damaging	Het
Arhgef7	A	G	8: 11,728,388	E46G	probably benign	Het
Atg2b	A	G	12: 105,646,796	V1172A	probably benign	Het
Bhlhe23	T	A	2: 180,776,093	K217N	probably damaging	Het
Birc6	A	C	17: 74,670,374	N4388T	probably damaging	Het
Ccp110	C	T	7: 118,729,696	A845V	probably damaging	Het
Cd63	A	G	10: 128,911,853	Y105C	probably damaging	Het
Cdk11b	T	C	4: 155,638,615		probably null	Het
Clip1	T	A	5: 123,630,681	R618S	probably benign	Het
Crybg1	A	T	10: 43,967,743	F1731L	possibly damaging	Het
Dock1	A	C	7: 134,789,194	K728Q	possibly damaging	Het
Emc2	A	G	15: 43,510,844	E180G	probably damaging	Het
Fnta	A	G	8: 26,009,707	I155T	probably benign	Het
Fshr	T	A	17: 88,986,256	E331D	probably benign	Het
Fshr	T	A	17: 88,986,257	E331V	probably benign	Het
Gas2l1	A	T	11: 5,061,108	C574S	probably benign	Het
Ggnbp2	T	A	11: 84,854,021		probably benign	Het
Gm3371	A	C	14: 44,403,654		probably benign	Het
Gm7489	T	A	15: 53,885,620		probably benign	Het
Hand1	A	C	11: 57,831,447	F114V	probably damaging	Het
Itga4	A	C	2: 79,280,595	H259P	probably damaging	Het
Jakmip1	A	T	5: 37,104,901	H183L	probably benign	Het
Kif1bp	A	T	10: 62,563,129		probably benign	Het
Krt8	G	T	15: 101,997,967	A369D	possibly damaging	Het
Krt82	T	C	15: 101,545,049	S301G	probably damaging	Het
Lig3	A	G	11: 82,787,678	T248A	probably benign	Het
Madcam1	C	G	10: 79,668,345	T255S	probably benign	Het
Med20	T	C	17: 47,618,850	Y71H	probably benign	Het
Mtss1l	A	G	8: 110,729,218	I107V	probably damaging	Het
Nans	T	C	4: 46,502,547	F328S	possibly damaging	Het
Ncbp3	A	G	11: 73,053,547		probably benign	Het
Nek8	T	C	11: 78,172,516	M1V	probably null	Het
Nufip1	A	T	14: 76,133,098	N413I	possibly damaging	Het
Pbx3	T	C	2: 34,288,781		probably benign	Het
Plppr3	C	T	10: 79,862,445	G419R	probably benign	Het
Rfx1	G	T	8: 84,066,592		probably benign	Het
Rnpepl1	C	T	1: 92,911,323	A68V	probably benign	Het
Rsbn1l	A	T	5: 20,896,214	M776K	probably benign	Het
Setd7	A	T	3: 51,542,817	Y63N	probably damaging	Het
Slc45a2	C	T	15: 11,027,785	T480I	probably damaging	Het
Snap47	T	C	11: 59,428,352	E320G	probably damaging	Het
Spaca6	C	A	17: 17,838,394	P68Q	probably benign	Het
Tdrd3	G	C	14: 87,506,215	R527P	probably damaging	Het
Tmprss2	G	T	16: 97,576,292	Q202K	probably benign	Het
Tmprss6	A	G	15: 78,446,260	V69A	probably damaging	Het
Trav6-1	A	T	14: 52,638,704	Q27L	probably benign	Het
Ttn	T	C	2: 76,789,601	I15908V	probably benign	Het
Ttn	T	A	2: 76,797,675	D12931V	probably damaging	Het
Ttn	C	T	2: 76,901,613		probably benign	Het
Ush2a	T	A	1: 188,444,705		probably null	Het
Wls	A	G	3: 159,873,008	N69S	probably benign	Het

Other mutations in F13b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00436:F13b	APN	1	139510587	missense	probably benign	0.01
IGL00937:F13b	APN	1	139517360	splice site	probably benign
IGL01138:F13b	APN	1	139517212	missense	probably damaging	0.99
IGL01319:F13b	APN	1	139506793	missense	probably damaging	0.98
IGL01328:F13b	APN	1	139508082	splice site	probably benign
IGL01621:F13b	APN	1	139503851	missense	probably benign	0.00
IGL01843:F13b	APN	1	139516427	missense	probably damaging	1.00
IGL02153:F13b	APN	1	139516377	missense	probably damaging	1.00
IGL02192:F13b	APN	1	139517333	missense	probably damaging	1.00
IGL02555:F13b	APN	1	139517186	missense	probably damaging	1.00
IGL03036:F13b	APN	1	139508115	missense	possibly damaging	0.80
IGL03185:F13b	APN	1	139516386	missense	probably benign	0.03
IGL03303:F13b	APN	1	139513036	missense	possibly damaging	0.67
IGL03335:F13b	APN	1	139522386	missense	probably damaging	1.00
IGL03371:F13b	APN	1	139506936	missense	probably damaging	1.00
R0139:F13b	UTSW	1	139508203	missense	probably damaging	0.96
R0157:F13b	UTSW	1	139503847	missense	probably benign
R0381:F13b	UTSW	1	139510859	missense	probably damaging	0.98
R0492:F13b	UTSW	1	139522559	splice site	probably null
R0589:F13b	UTSW	1	139506933	missense	possibly damaging	0.94
R1462:F13b	UTSW	1	139507636	missense	probably damaging	1.00
R1462:F13b	UTSW	1	139507636	missense	probably damaging	1.00
R1515:F13b	UTSW	1	139510965	missense	probably damaging	1.00
R1869:F13b	UTSW	1	139510934	missense	probably benign	0.44
R2047:F13b	UTSW	1	139508223	missense	probably damaging	1.00
R2218:F13b	UTSW	1	139506844	missense	probably benign	0.42
R2878:F13b	UTSW	1	139501747	start codon destroyed	probably null
R3032:F13b	UTSW	1	139517333	missense	probably damaging	1.00
R4077:F13b	UTSW	1	139501770	missense	unknown
R4079:F13b	UTSW	1	139501770	missense	unknown
R4208:F13b	UTSW	1	139516341	missense	probably damaging	1.00
R4350:F13b	UTSW	1	139516298	missense	probably benign	0.00
R4674:F13b	UTSW	1	139501804	missense	unknown
R4675:F13b	UTSW	1	139501804	missense	unknown
R4972:F13b	UTSW	1	139510923	missense	probably damaging	1.00
R5343:F13b	UTSW	1	139510544	missense	possibly damaging	0.61
R5503:F13b	UTSW	1	139522543	missense	probably benign	0.00
R5984:F13b	UTSW	1	139508212	missense	probably damaging	1.00
R7012:F13b	UTSW	1	139516358	missense	probably benign
R7155:F13b	UTSW	1	139508157	missense	probably damaging	1.00
R7250:F13b	UTSW	1	139516489	critical splice donor site	probably null
R7478:F13b	UTSW	1	139507695	missense	probably benign	0.01
R7779:F13b	UTSW	1	139516386	missense	probably benign	0.03
R8007:F13b	UTSW	1	139506942	missense	not run
R8043:F13b	UTSW	1	139522448	missense	not run
Z1088:F13b	UTSW	1	139508202	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- GAACCTCTTTATCACTGTTGGC -3'
(R):5'- TTCTTACCCAAGCAGACAGG -3'

Sequencing Primer
(F):5'- TGGCTTTACCATCAAGAAAAGAAG -3'
(R):5'- CTTACCCAAGCAGACAGGTGGAG -3'

Posted On

2016-07-22