Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03303:F13b'

416274

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 #

IGL03303

Quality Score

Status

Chromosome

Chromosomal Location

139501702-139523752 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 139513036 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 410 (D410V)

Ref Sequence

ENSEMBL: ENSMUSP00000027615 (fasta)

Gene Model

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

AlphaFold

Q07968

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027615
AA Change: D410V

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000027615
Gene: ENSMUSG00000026368
AA Change: D410V

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,870,077	E17G	possibly damaging	Het
A2m	T	A	6: 121,667,163	V940E	probably damaging	Het
Agap1	T	A	1: 89,665,152	V307D	probably damaging	Het
Amd1	A	G	10: 40,290,125	V286A	possibly damaging	Het
Chrne	T	C	11: 70,615,100	K453R	possibly damaging	Het
Ckm	T	A	7: 19,414,338		probably benign	Het
Ckmt1	A	G	2: 121,360,005	T138A	probably benign	Het
Cldn4	A	G	5: 134,946,249	V166A	possibly damaging	Het
Dclre1a	T	C	19: 56,546,766	T129A	possibly damaging	Het
Dlgap2	T	A	8: 14,727,812	D352E	probably damaging	Het
Dnmt1	A	G	9: 20,926,710	I236T	probably benign	Het
Enam	G	T	5: 88,504,591	V1320L	probably benign	Het
Ezh1	A	C	11: 101,195,671		probably null	Het
Fcrl6	A	T	1: 172,597,688	Y259N	probably damaging	Het
Fpr-rs7	A	T	17: 20,113,739	F163Y	possibly damaging	Het
Gpihbp1	C	T	15: 75,597,978	Q181*	probably null	Het
Htr2b	T	C	1: 86,099,339		probably benign	Het
Igkv1-35	A	G	6: 70,011,651	I8T	probably benign	Het
Kcnq2	T	C	2: 181,082,389	T584A	probably benign	Het
Khdrbs3	A	G	15: 69,024,823	T111A	probably benign	Het
Krtap29-1	A	T	11: 99,978,843	C71S	probably benign	Het
Lrrc4c	A	T	2: 97,629,592	I188F	probably damaging	Het
Med1	G	T	11: 98,158,352	N539K	probably damaging	Het
Mga	T	A	2: 119,903,452	D260E	probably damaging	Het
Mnd1	A	G	3: 84,104,937	I155T	probably benign	Het
Msrb3	T	C	10: 120,784,141	D91G	probably benign	Het
Mycbp2	A	T	14: 103,247,758	D1102E	probably damaging	Het
Nfx1	T	A	4: 41,004,323		probably benign	Het
Nrsn2	T	C	2: 152,374,211	D24G	possibly damaging	Het
Olfr1262	A	T	2: 90,002,466	K20I	possibly damaging	Het
Osmr	T	A	15: 6,842,808	R268S	probably benign	Het
Pelo	C	A	13: 115,088,661	V343L	probably damaging	Het
Rp1	T	A	1: 4,344,817	N2024I	probably damaging	Het
Rps6ka2	C	T	17: 7,228,012	Q33*	probably null	Het
Slfn2	G	A	11: 83,069,467	V91I	possibly damaging	Het
Socs6	G	T	18: 88,869,744	A349E	probably damaging	Het
Syt2	A	G	1: 134,741,911	N97D	probably benign	Het
Tas2r123	T	A	6: 132,847,438	H99Q	probably damaging	Het
Tmc3	A	G	7: 83,590,725		probably benign	Het
Ube2s	A	T	7: 4,810,477	V35D	probably damaging	Het
Usp32	A	T	11: 85,022,832	V891D	probably damaging	Het
Vmn1r169	A	T	7: 23,578,009	E275D	probably benign	Het
Vps13c	A	G	9: 67,934,504	H1936R	probably benign	Het
Wrap73	C	A	4: 154,146,543	A92E	probably damaging	Het
Zfhx4	C	T	3: 5,403,350	T2856M	probably damaging	Het
Zmym1	A	T	4: 127,049,134	I487N	probably damaging	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
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
R7960:F13b	UTSW	1	139503771	nonsense	probably null
R8007:F13b	UTSW	1	139506942	missense	probably benign	0.11
R8043:F13b	UTSW	1	139522448	missense	probably benign
R8281:F13b	UTSW	1	139510951	missense	probably benign	0.03
R9034:F13b	UTSW	1	139508223	missense	probably damaging	1.00
Z1088:F13b	UTSW	1	139508202	missense	probably benign	0.15

Posted On

2016-08-02