Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00937:F13b'

26663

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00937

Quality Score

Status

Chromosome

Chromosomal Location

139429440-139451490 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 139445098 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000027615 (fasta)

Gene Model

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

AlphaFold

Q07968

Predicted Effect

probably benign
Transcript: ENSMUST00000027615

SMART Domains

Protein: ENSMUSP00000027615
Gene: ENSMUSG00000026368

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cc2d2a	A	T	5: 43,845,464 (GRCm39)		probably null	Het
Cd34	A	G	1: 194,642,422 (GRCm39)	E381G	probably damaging	Het
Chka	A	G	19: 3,942,189 (GRCm39)	E381G	probably benign	Het
Dennd1b	T	A	1: 139,097,977 (GRCm39)	C673S	probably benign	Het
E130308A19Rik	G	A	4: 59,690,846 (GRCm39)	A227T	probably benign	Het
Hipk3	T	C	2: 104,263,517 (GRCm39)	N933D	possibly damaging	Het
Mmp27	T	C	9: 7,578,900 (GRCm39)		probably benign	Het
Nod1	C	T	6: 54,914,349 (GRCm39)	V815I	probably benign	Het
Or2a5	T	A	6: 42,873,568 (GRCm39)	F61Y	probably damaging	Het
Or2ag15	T	A	7: 106,340,364 (GRCm39)	Y259F	probably damaging	Het
Or3a1d	C	T	11: 74,238,255 (GRCm39)	V52I	probably benign	Het
Or51ab3	C	A	7: 103,201,064 (GRCm39)	A24E	probably damaging	Het
Or51h1	T	A	7: 102,308,555 (GRCm39)	S176T	probably damaging	Het
Or52k2	T	A	7: 102,253,564 (GRCm39)	M1K	probably null	Het
Pms1	T	A	1: 53,314,410 (GRCm39)	E45V	possibly damaging	Het
Prkcsh	T	C	9: 21,917,861 (GRCm39)	S126P	possibly damaging	Het
Pros1	A	T	16: 62,730,408 (GRCm39)	L299F	probably damaging	Het
Scrn1	A	G	6: 54,497,718 (GRCm39)	I291T	probably benign	Het
Slc15a2	A	T	16: 36,572,242 (GRCm39)	Y676*	probably null	Het
Tenm2	A	C	11: 35,915,450 (GRCm39)	V2028G	probably damaging	Het
Trpa1	T	C	1: 14,950,501 (GRCm39)		probably benign	Het

Other mutations in F13b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00436:F13b	APN	1	139,438,325 (GRCm39)	missense	probably benign	0.01
IGL01138:F13b	APN	1	139,444,950 (GRCm39)	missense	probably damaging	0.99
IGL01319:F13b	APN	1	139,434,531 (GRCm39)	missense	probably damaging	0.98
IGL01328:F13b	APN	1	139,435,820 (GRCm39)	splice site	probably benign
IGL01621:F13b	APN	1	139,431,589 (GRCm39)	missense	probably benign	0.00
IGL01843:F13b	APN	1	139,444,165 (GRCm39)	missense	probably damaging	1.00
IGL02153:F13b	APN	1	139,444,115 (GRCm39)	missense	probably damaging	1.00
IGL02192:F13b	APN	1	139,445,071 (GRCm39)	missense	probably damaging	1.00
IGL02555:F13b	APN	1	139,444,924 (GRCm39)	missense	probably damaging	1.00
IGL03036:F13b	APN	1	139,435,853 (GRCm39)	missense	possibly damaging	0.80
IGL03185:F13b	APN	1	139,444,124 (GRCm39)	missense	probably benign	0.03
IGL03303:F13b	APN	1	139,440,774 (GRCm39)	missense	possibly damaging	0.67
IGL03335:F13b	APN	1	139,450,124 (GRCm39)	missense	probably damaging	1.00
IGL03371:F13b	APN	1	139,434,674 (GRCm39)	missense	probably damaging	1.00
R0139:F13b	UTSW	1	139,435,941 (GRCm39)	missense	probably damaging	0.96
R0157:F13b	UTSW	1	139,431,585 (GRCm39)	missense	probably benign
R0381:F13b	UTSW	1	139,438,597 (GRCm39)	missense	probably damaging	0.98
R0492:F13b	UTSW	1	139,450,297 (GRCm39)	splice site	probably null
R0589:F13b	UTSW	1	139,434,671 (GRCm39)	missense	possibly damaging	0.94
R1462:F13b	UTSW	1	139,435,374 (GRCm39)	missense	probably damaging	1.00
R1462:F13b	UTSW	1	139,435,374 (GRCm39)	missense	probably damaging	1.00
R1515:F13b	UTSW	1	139,438,703 (GRCm39)	missense	probably damaging	1.00
R1869:F13b	UTSW	1	139,438,672 (GRCm39)	missense	probably benign	0.44
R2047:F13b	UTSW	1	139,435,961 (GRCm39)	missense	probably damaging	1.00
R2218:F13b	UTSW	1	139,434,582 (GRCm39)	missense	probably benign	0.42
R2878:F13b	UTSW	1	139,429,485 (GRCm39)	start codon destroyed	probably null
R3032:F13b	UTSW	1	139,445,071 (GRCm39)	missense	probably damaging	1.00
R4077:F13b	UTSW	1	139,429,508 (GRCm39)	missense	unknown
R4079:F13b	UTSW	1	139,429,508 (GRCm39)	missense	unknown
R4208:F13b	UTSW	1	139,444,079 (GRCm39)	missense	probably damaging	1.00
R4350:F13b	UTSW	1	139,444,036 (GRCm39)	missense	probably benign	0.00
R4674:F13b	UTSW	1	139,429,542 (GRCm39)	missense	unknown
R4675:F13b	UTSW	1	139,429,542 (GRCm39)	missense	unknown
R4972:F13b	UTSW	1	139,438,661 (GRCm39)	missense	probably damaging	1.00
R5212:F13b	UTSW	1	139,440,725 (GRCm39)	missense	probably benign
R5343:F13b	UTSW	1	139,438,282 (GRCm39)	missense	possibly damaging	0.61
R5503:F13b	UTSW	1	139,450,281 (GRCm39)	missense	probably benign	0.00
R5984:F13b	UTSW	1	139,435,950 (GRCm39)	missense	probably damaging	1.00
R7012:F13b	UTSW	1	139,444,096 (GRCm39)	missense	probably benign
R7155:F13b	UTSW	1	139,435,895 (GRCm39)	missense	probably damaging	1.00
R7250:F13b	UTSW	1	139,444,227 (GRCm39)	critical splice donor site	probably null
R7478:F13b	UTSW	1	139,435,433 (GRCm39)	missense	probably benign	0.01
R7779:F13b	UTSW	1	139,444,124 (GRCm39)	missense	probably benign	0.03
R7960:F13b	UTSW	1	139,431,509 (GRCm39)	nonsense	probably null
R8007:F13b	UTSW	1	139,434,680 (GRCm39)	missense	probably benign	0.11
R8043:F13b	UTSW	1	139,450,186 (GRCm39)	missense	probably benign
R8281:F13b	UTSW	1	139,438,689 (GRCm39)	missense	probably benign	0.03
R9034:F13b	UTSW	1	139,435,961 (GRCm39)	missense	probably damaging	1.00
Z1088:F13b	UTSW	1	139,435,940 (GRCm39)	missense	probably benign	0.15

Posted On

2013-04-17