Mutagenetix > Incidental Mutations

Incidental Mutation 'R1462:F13b'

186279

Institutional Source

Beutler Lab

Gene Symbol

F13b

Ensembl Gene

ENSMUSG00000026368

Gene Name

coagulation factor XIII, beta subunit

Synonyms

Cf-13b, Cf13b

MMRRC Submission

039516-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1462 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139501702-139523752 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 139507636 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 173 (V173E)

Ref Sequence

ENSEMBL: ENSMUSP00000027615 (fasta)

Gene Model

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

AlphaFold

Q07968

Predicted Effect

probably damaging
Transcript: ENSMUST00000027615
AA Change: V173E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000027615
Gene: ENSMUSG00000026368
AA Change: V173E

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

Meta Mutation Damage Score

0.3151

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.0%
20x: 92.0%

Validation Efficiency

99% (83/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	C	A	7: 40,992,946	S104*	probably null	Het
A430093F15Rik	A	T	19: 10,785,481		probably benign	Het
Abca13	T	A	11: 9,483,924		probably benign	Het
Abca9	T	C	11: 110,160,516	D118G	probably benign	Het
AC239677.1	T	A	5: 25,951,625	I119F	possibly damaging	Het
Adamts16	A	G	13: 70,836,134	F137L	probably benign	Het
Adamts3	T	C	5: 89,861,349	I152V	probably benign	Het
Adcy4	T	A	14: 55,778,308	E441D	possibly damaging	Het
Adgra1	T	A	7: 139,875,829	Y458N	probably damaging	Het
Atpaf1	C	T	4: 115,784,953		probably benign	Het
Bhlhe22	C	G	3: 18,055,782	S332C	probably damaging	Het
Card19	T	A	13: 49,205,284	Q71L	probably benign	Het
Ccdc12	T	C	9: 110,656,594	L11P	probably damaging	Het
Ccdc129	A	G	6: 55,975,664	H864R	probably damaging	Het
Cdadc1	A	G	14: 59,575,858	Y367H	probably damaging	Het
Cdc5l	G	T	17: 45,408,362	Q542K	possibly damaging	Het
Cep170	T	C	1: 176,756,645	K723E	possibly damaging	Het
Cep70	A	G	9: 99,263,720	I147V	probably benign	Het
Cfap58	A	T	19: 47,962,430	H410L	probably damaging	Het
Chat	T	C	14: 32,420,778	K418R	probably damaging	Het
Cic	T	G	7: 25,271,607	D254E	probably damaging	Het
Ckap4	T	C	10: 84,527,567	E544G	probably damaging	Het
Crnkl1	C	T	2: 145,921,819	A500T	probably damaging	Het
Cyp2c38	T	C	19: 39,392,188	N418D	probably damaging	Het
Daam1	A	T	12: 71,944,142	I177L	unknown	Het
Dnah1	T	C	14: 31,268,781		probably benign	Het
Ercc5	A	G	1: 44,180,624	T1019A	probably damaging	Het
Fam126a	A	G	5: 23,985,732		probably benign	Het
Fam135b	A	G	15: 71,621,996		probably benign	Het
Fam20a	A	C	11: 109,677,317	F316V	probably damaging	Het
Flrt2	T	C	12: 95,779,338	V150A	probably damaging	Het
Fnta	A	C	8: 25,999,571		probably null	Het
Ghsr	A	G	3: 27,371,876	D27G	probably benign	Het
Glis3	G	T	19: 28,262,518		probably benign	Het
Gm5155	T	G	7: 17,915,591		noncoding transcript	Het
Gtpbp1	A	G	15: 79,707,885	N96D	probably damaging	Het
H1fnt	A	T	15: 98,256,573	W232R	unknown	Het
Ibtk	A	T	9: 85,724,145	I443N	probably damaging	Het
Ifi207	T	C	1: 173,724,947	H968R	probably damaging	Het
Ifit2	A	G	19: 34,573,186	D42G	probably null	Het
Il17rc	A	T	6: 113,478,989	D265V	probably damaging	Het
Ints10	G	A	8: 68,807,644		probably benign	Het
Itfg2	T	C	6: 128,424,728	D29G	probably damaging	Het
Kcng3	A	T	17: 83,631,063	C186S	probably damaging	Het
Lrrc1	A	G	9: 77,442,265	F295L	probably benign	Het
Mrps28	T	A	3: 8,900,124	H85L	possibly damaging	Het
Mtpn	T	A	6: 35,522,758	K37M	possibly damaging	Het
Mug1	C	T	6: 121,882,629	H1196Y	probably benign	Het
Mup4	T	C	4: 59,960,084	H60R	possibly damaging	Het
Musk	A	G	4: 58,286,204		probably benign	Het
Mybl2	T	C	2: 163,072,708	S249P	probably benign	Het
Naip6	A	G	13: 100,300,240	Y592H	possibly damaging	Het
Nrp1	A	G	8: 128,502,798	N919S	probably benign	Het
Nudt9	C	T	5: 104,065,038	Q326*	probably null	Het
Olfr1136	A	T	2: 87,693,376	C169S	probably damaging	Het
Olfr813	A	G	10: 129,857,231	T238A	probably damaging	Het
Olfr827	T	A	10: 130,210,723	I136F	probably benign	Het
Olfr829	T	A	9: 18,857,111	M162K	probably benign	Het
Pcsk4	T	C	10: 80,325,981	E142G	probably damaging	Het
Pde3a	C	A	6: 141,459,834	P471T	probably benign	Het
Pign	A	T	1: 105,585,002	V652E	possibly damaging	Het
Prkcb	T	A	7: 122,582,449	M420K	probably damaging	Het
Prr14	T	A	7: 127,473,988		probably null	Het
Rchy1	T	A	5: 91,957,882	Q69L	probably damaging	Het
Sccpdh	A	C	1: 179,681,560		probably benign	Het
Sec23ip	T	G	7: 128,766,138	S625A	probably benign	Het
Smpdl3b	A	G	4: 132,746,614	S47P	probably damaging	Het
Stil	G	A	4: 115,023,964	M568I	probably benign	Het
Syt3	T	A	7: 44,396,010	V558E	probably damaging	Het
Sytl3	A	G	17: 6,706,031		probably benign	Het
Szt2	A	G	4: 118,373,967	V2533A	unknown	Het
Tenm4	A	G	7: 96,704,153	Y384C	probably damaging	Het
Tfam	T	C	10: 71,235,550	E94G	probably damaging	Het
Tmbim7	A	G	5: 3,664,304	T14A	probably damaging	Het
Tmtc2	A	T	10: 105,573,705	Y15*	probably null	Het
Uhrf1	C	T	17: 56,318,035	A526V	probably damaging	Het
Vmn2r67	T	C	7: 85,155,838	D22G	probably benign	Het
Vmn2r96	A	G	17: 18,597,398	I412M	possibly damaging	Het
Vmn2r-ps69	T	A	7: 85,310,352		noncoding transcript	Het
Wdr17	A	T	8: 54,670,328	I479K	probably damaging	Het
Wt1	T	C	2: 105,166,831	V371A	probably damaging	Het
Zfp536	G	T	7: 37,479,310	S226Y	probably damaging	Het
Zfp827	T	C	8: 79,076,479	V560A	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
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

Predicted Primers

PCR Primer
(F):5'- CGCAAAGGCAAAGTGGTCCTTTC -3'
(R):5'- ACGGAATGTTACTGGCAGAGCAATC -3'

Sequencing Primer
(F):5'- GGCAAAGTGGTCCTTTCAATTTTAC -3'
(R):5'- ACTGGCAGAGCAATCTATATGC -3'

Posted On

2014-05-09