Mutagenetix > Incidental Mutation

Incidental Mutation 'R4675:F13b'

349462

Institutional Source

Beutler Lab

Gene Symbol

F13b

Ensembl Gene

ENSMUSG00000026368

Gene Name

coagulation factor XIII, beta subunit

Synonyms

Cf-13b, Cf13b

MMRRC Submission

041930-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4675 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139429440-139451490 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139429542 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 20 (Y20C)

Ref Sequence

ENSEMBL: ENSMUSP00000027615 (fasta)

Gene Model

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

AlphaFold

Q07968

Predicted Effect

unknown
Transcript: ENSMUST00000027615
AA Change: Y20C

SMART Domains

Protein: ENSMUSP00000027615
Gene: ENSMUSG00000026368
AA Change: Y20C

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

0.2104

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

95% (89/94)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	A	17: 36,203,820 (GRCm39)	K291N	probably damaging	Het
Adgra1	A	G	7: 139,456,102 (GRCm39)	T577A	probably damaging	Het
Akip1	T	A	7: 109,308,188 (GRCm39)	I152N	possibly damaging	Het
Armc9	A	G	1: 86,130,240 (GRCm39)	Y8C	probably damaging	Het
Atp1a4	A	T	1: 172,085,223 (GRCm39)	V66E	possibly damaging	Het
Atp2a3	A	T	11: 72,872,623 (GRCm39)	T724S	probably damaging	Het
Bmp1	C	A	14: 70,730,284 (GRCm39)	R416L	probably damaging	Het
Bmt2	G	T	6: 13,663,300 (GRCm39)	A66E	probably benign	Het
Bscl2	A	T	19: 8,825,523 (GRCm39)	D403V	possibly damaging	Het
Cbx2	T	A	11: 118,919,935 (GRCm39)	I500N	probably damaging	Het
Cd84	A	T	1: 171,700,887 (GRCm39)	H216L	possibly damaging	Het
Cdhr18	A	T	14: 13,856,724 (GRCm38)	D462E	probably benign	Het
Ceacam15	T	C	7: 16,407,410 (GRCm39)	T36A	probably benign	Het
Cebpd	A	G	16: 15,705,385 (GRCm39)	D66G	probably damaging	Het
Cntnap4	A	G	8: 113,512,468 (GRCm39)	Y610C	probably damaging	Het
Col11a2	T	C	17: 34,283,267 (GRCm39)		probably null	Het
Col17a1	T	C	19: 47,651,497 (GRCm39)		probably null	Het
Cracr2b	A	G	7: 141,043,451 (GRCm39)	D43G	probably damaging	Het
Dgkz	T	A	2: 91,768,691 (GRCm39)	K697*	probably null	Het
Dnah7b	T	A	1: 46,256,317 (GRCm39)	D1873E	possibly damaging	Het
Dst	G	A	1: 34,314,784 (GRCm39)	E6472K	possibly damaging	Het
Duox2	T	C	2: 122,111,414 (GRCm39)	D1428G	probably damaging	Het
Elmod2	T	C	8: 84,043,537 (GRCm39)	N210S	probably damaging	Het
Ephx1	A	G	1: 180,822,256 (GRCm39)	F220S	probably damaging	Het
Fbn2	T	A	18: 58,173,265 (GRCm39)	N2051I	possibly damaging	Het
Gabrg2	G	A	11: 41,859,650 (GRCm39)	H201Y	probably damaging	Het
Gbgt1	T	C	2: 28,388,453 (GRCm39)	F46S	possibly damaging	Het
Gjd4	A	G	18: 9,280,578 (GRCm39)	S167P	probably damaging	Het
Heatr5a	T	C	12: 51,924,130 (GRCm39)	N2028D	probably benign	Het
Heca	T	C	10: 17,791,057 (GRCm39)	H333R	probably benign	Het
Herc1	T	C	9: 66,298,740 (GRCm39)	S625P	probably damaging	Het
Ighv1-55	T	C	12: 115,172,175 (GRCm39)		probably benign	Het
Ighv5-8	G	A	12: 113,618,777 (GRCm39)	S64N	probably benign	Het
Itga1	G	T	13: 115,138,227 (GRCm39)		probably null	Het
Kif21a	C	A	15: 90,824,748 (GRCm39)	R1342L	possibly damaging	Het
Ksr1	G	A	11: 78,965,186 (GRCm39)	P118S	possibly damaging	Het
Lat2	T	C	5: 134,634,911 (GRCm39)	N100S	probably damaging	Het
Lrit3	T	A	3: 129,582,121 (GRCm39)	D501V	probably damaging	Het
Lrrfip1	T	A	1: 91,031,042 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,809,968 (GRCm39)	R546H	probably damaging	Het
Med21	T	A	6: 146,551,691 (GRCm39)	L114H	probably damaging	Het
Mfap4	A	T	11: 61,376,336 (GRCm39)		probably benign	Het
Mpdz	G	A	4: 81,302,049 (GRCm39)	R233W	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Ncapd3	T	C	9: 27,006,038 (GRCm39)		probably benign	Het
Neto2	T	G	8: 86,396,333 (GRCm39)	H104P	probably damaging	Het
Nr1h2	T	C	7: 44,201,979 (GRCm39)	T36A	possibly damaging	Het
Nudt16l2	T	C	9: 105,021,647 (GRCm39)	D133G	probably benign	Het
Or13a20	A	T	7: 140,232,074 (GRCm39)	M61L	probably damaging	Het
Or4a79	T	C	2: 89,551,838 (GRCm39)	I206V	probably benign	Het
Or51ab3	T	G	7: 103,201,183 (GRCm39)	L64V	probably damaging	Het
Or51g2	A	G	7: 102,623,013 (GRCm39)	M62T	probably damaging	Het
Or52p1	T	A	7: 104,267,631 (GRCm39)	C248*	probably null	Het
Or5p52	A	G	7: 107,502,567 (GRCm39)	I214M	probably damaging	Het
Or5p72	T	C	7: 108,022,309 (GRCm39)	V177A	possibly damaging	Het
Or8b4	T	C	9: 37,830,882 (GRCm39)	*310R	probably null	Het
Pcbp3	A	G	10: 76,606,869 (GRCm39)	L241S	possibly damaging	Het
Pcf11	G	A	7: 92,308,985 (GRCm39)		probably benign	Het
Podxl	G	A	6: 31,503,579 (GRCm39)	T254M	possibly damaging	Het
Prr27	A	C	5: 87,991,100 (GRCm39)	E237D	possibly damaging	Het
Rdh16	G	T	10: 127,637,316 (GRCm39)	V84F	probably damaging	Het
Rnf26	A	T	9: 44,023,428 (GRCm39)	D273E	probably benign	Het
Rpl13a	A	T	7: 44,776,242 (GRCm39)		probably benign	Het
Rpl3l	A	G	17: 24,952,584 (GRCm39)	K239E	probably benign	Het
Rsf1	G	A	7: 97,229,117 (GRCm39)		probably benign	Het
Rsf1	A	AGGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Ryk	A	G	9: 102,768,415 (GRCm39)	D352G	possibly damaging	Het
Setd1b	T	A	5: 123,299,061 (GRCm39)		probably benign	Het
Sh2b1	G	A	7: 126,070,618 (GRCm39)	A361V	possibly damaging	Het
Slc35f3	A	T	8: 127,047,935 (GRCm39)	K92*	probably null	Het
Slc39a10	A	G	1: 46,857,144 (GRCm39)		probably benign	Het
Slc47a1	G	A	11: 61,253,857 (GRCm39)	T194I	probably benign	Het
Slc6a3	C	A	13: 73,692,936 (GRCm39)	N185K	probably damaging	Het
Stag1	T	C	9: 100,730,758 (GRCm39)	V391A	probably damaging	Het
Syne2	A	C	12: 75,996,075 (GRCm39)	N2206T	probably damaging	Het
Tbc1d23	C	A	16: 57,003,325 (GRCm39)	R481I	possibly damaging	Het
Tcstv7b	T	C	13: 120,702,362 (GRCm39)	W53R	probably damaging	Het
Tfam	A	G	10: 71,069,225 (GRCm39)	S166P	probably benign	Het
Tmem63a	A	G	1: 180,784,056 (GRCm39)	H212R	probably benign	Het
Txndc11	T	A	16: 10,902,745 (GRCm39)	Q634L	possibly damaging	Het
Usp31	T	C	7: 121,306,548 (GRCm39)		probably benign	Het
Vmn1r204	A	T	13: 22,740,962 (GRCm39)	M198L	probably damaging	Het
Vmn2r17	A	T	5: 109,575,049 (GRCm39)	T119S	probably benign	Het
Vsig1	A	G	X: 139,833,861 (GRCm39)	D227G	probably damaging	Het
Zfhx2	G	A	14: 55,304,678 (GRCm39)	P1102L	probably benign	Het
Zfp715	T	C	7: 42,949,444 (GRCm39)	Q172R	probably benign	Het
Zfp872	A	G	9: 22,108,701 (GRCm39)	D53G	probably damaging	Het
Zswim8	G	A	14: 20,764,681 (GRCm39)	D684N	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
IGL00937:F13b	APN	1	139,445,098 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- ATGTTACCTCGTTCCAAAGGTAC -3'
(R):5'- GCTCCCAAATCTAGAGAAATAAAGG -3'

Sequencing Primer
(F):5'- GAGATCCTGGGTGCTTTA -3'
(R):5'- AACTGGCATGTGAAAGTG -3'

Posted On

2015-10-08