Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02153:F13b'

282140

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

F13b

Ensembl Gene

ENSMUSG00000026368

Gene Name

coagulation factor XIII, beta subunit

Synonyms

Cf-13b, Cf13b

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02153

Quality Score

Status

Chromosome

Chromosomal Location

139501702-139523752 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139516377 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 483 (I483T)

Ref Sequence

ENSEMBL: ENSMUSP00000027615 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000027615
AA Change: I483T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027615
Gene: ENSMUSG00000026368
AA Change: I483T

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

Coding Region Coverage

Validation Efficiency

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	T	C	2: 152,441,241	I275T	probably benign	Het
BC005561	A	G	5: 104,521,083	E1157G	probably benign	Het
Chd9	A	T	8: 90,956,494	K521*	probably null	Het
Csn3	A	T	5: 87,930,097	N154I	possibly damaging	Het
Dock2	A	G	11: 34,230,670	S1716P	probably benign	Het
Dock7	A	T	4: 98,958,067	S18T	probably benign	Het
Esrra	G	A	19: 6,913,822	T190I	probably benign	Het
Foxb1	T	A	9: 69,759,703	M182L	probably benign	Het
Fsip2	T	C	2: 82,978,721	F1795L	probably benign	Het
Gkn2	G	A	6: 87,373,408		probably null	Het
Gm8439	G	A	4: 120,609,590	A93T	unknown	Het
Ift22	T	C	5: 136,911,696	S72P	probably benign	Het
Kcnmb2	A	G	3: 32,178,844	K24E	probably damaging	Het
Kcnq3	C	A	15: 66,025,191	V287L	probably damaging	Het
Lrriq1	T	A	10: 103,170,479	M1262L	probably benign	Het
Mb21d2	A	G	16: 28,929,488	I59T	probably benign	Het
Mogat2	A	T	7: 99,223,554	M141K	possibly damaging	Het
Mtdh	C	T	15: 34,131,250	L409F	possibly damaging	Het
Muc5ac	C	T	7: 141,818,800	Q2724*	probably null	Het
Myo15	T	G	11: 60,498,397	L2040R	probably damaging	Het
Nodal	C	T	10: 61,424,545	T325I	probably damaging	Het
Pappa	A	T	4: 65,297,437	T1194S	probably damaging	Het
Pcdhb13	A	C	18: 37,443,685	D372A	probably damaging	Het
Phf14	T	A	6: 11,934,016	N292K	probably damaging	Het
Pigr	T	A	1: 130,849,056		probably null	Het
Plcb1	T	C	2: 135,387,853	I1131T	probably benign	Het
Plch1	T	A	3: 63,781,351	D132V	probably damaging	Het
Plxnb2	C	A	15: 89,165,813	E502*	probably null	Het
Prox2	T	C	12: 85,087,929	N526S	probably damaging	Het
Rdm1	T	A	11: 101,628,454		probably null	Het
Rxfp1	C	T	3: 79,660,120	E308K	probably benign	Het
Sgca	T	C	11: 94,963,284	T120A	probably damaging	Het
Sh3tc1	G	A	5: 35,703,352	R1054W	probably damaging	Het
Smarcal1	C	T	1: 72,633,055		probably benign	Het
Spata45	T	A	1: 191,039,761	M60K	probably benign	Het
St8sia6	T	C	2: 13,656,905	M372V	probably damaging	Het
Tas2r126	T	G	6: 42,434,664	S44A	probably benign	Het
Tcea3	T	A	4: 136,273,634		probably benign	Het
Tln1	T	C	4: 43,546,857	I840V	possibly damaging	Het
Ttn	T	C	2: 76,898,341		probably benign	Het
Ubr4	T	A	4: 139,460,160	Y3846*	probably null	Het
Usp47	G	A	7: 112,104,049	D1171N	probably benign	Het
Vmn2r114	G	A	17: 23,291,808	T566I	probably benign	Het
Wdr35	G	A	12: 9,008,535	R575Q	probably null	Het
Xkr5	A	T	8: 18,933,667	C454S	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
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
R5212:F13b	UTSW	1	139512987	missense	probably benign
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
Z1088:F13b	UTSW	1	139508202	missense	probably benign	0.15

Posted On

2015-04-16