Mutagenetix > Incidental Mutation

Incidental Mutation 'R4972:F13b'

384486

Institutional Source

Beutler Lab

Gene Symbol

F13b

Ensembl Gene

ENSMUSG00000026368

Gene Name

coagulation factor XIII, beta subunit

Synonyms

Cf-13b, Cf13b

MMRRC Submission

042567-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4972 (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 139438661 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 355 (Y355C)

Ref Sequence

ENSEMBL: ENSMUSP00000027615 (fasta)

Gene Model

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

AlphaFold

Q07968

Predicted Effect

probably damaging
Transcript: ENSMUST00000027615
AA Change: Y355C

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

SMART Domains

Protein: ENSMUSP00000027615
Gene: ENSMUSG00000026368
AA Change: Y355C

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

0.6346

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.2%

Validation Efficiency

93% (82/88)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,383,361 (GRCm39)	I868N	possibly damaging	Het
A730013G03Rik	C	G	1: 192,516,081 (GRCm39)		noncoding transcript	Het
Actl11	A	G	9: 107,807,155 (GRCm39)	T493A	probably benign	Het
Actn1	T	C	12: 80,219,813 (GRCm39)	D686G	probably benign	Het
Adamts1	G	A	16: 85,592,833 (GRCm39)	T525I	probably damaging	Het
Adcy10	T	A	1: 165,384,431 (GRCm39)	L1064H	probably damaging	Het
AI661453	A	T	17: 47,777,324 (GRCm39)		probably benign	Het
Apba1	T	A	19: 23,889,900 (GRCm39)	S433T	probably benign	Het
Arid4b	T	A	13: 14,334,857 (GRCm39)	N355K	probably benign	Het
Bsn	A	T	9: 107,992,377 (GRCm39)	M1125K	probably damaging	Het
C2cd5	A	T	6: 142,958,950 (GRCm39)	M1003K	probably damaging	Het
Ccdc18	A	G	5: 108,339,869 (GRCm39)	M805V	probably benign	Het
Cep89	T	G	7: 35,131,977 (GRCm39)	L637R	probably damaging	Het
Col24a1	A	T	3: 145,215,439 (GRCm39)	I1444F	probably benign	Het
Commd4	A	T	9: 57,062,732 (GRCm39)	S175T	probably benign	Het
Coq7	A	G	7: 118,109,340 (GRCm39)	V236A	unknown	Het
Dctn2	C	T	10: 127,112,572 (GRCm39)	R176C	probably damaging	Het
Ddx31	T	C	2: 28,750,782 (GRCm39)	F389L	probably damaging	Het
Dgkz	C	T	2: 91,776,047 (GRCm39)	R72H	probably benign	Het
Dpysl4	A	G	7: 138,670,206 (GRCm39)	D24G	probably damaging	Het
Dydc1	A	G	14: 40,804,295 (GRCm39)	T106A	probably benign	Het
Fcrl5	A	G	3: 87,361,957 (GRCm39)	M407V	probably benign	Het
Fzd5	C	A	1: 64,775,171 (GRCm39)	V197L	probably benign	Het
Galnt16	G	T	12: 80,619,103 (GRCm39)	E70*	probably null	Het
Gpr171	A	T	3: 59,005,386 (GRCm39)	F130I	probably damaging	Het
Grin3a	T	C	4: 49,770,484 (GRCm39)	N763D	probably damaging	Het
Gsta2	A	T	9: 78,244,961 (GRCm39)	M51K	probably damaging	Het
Gvin-ps3	T	C	7: 105,682,521 (GRCm39)		noncoding transcript	Het
Hacd3	A	T	9: 64,897,718 (GRCm39)	I298N	probably damaging	Het
Il18r1	C	T	1: 40,530,224 (GRCm39)	P317L	probably benign	Het
Iscu	T	A	5: 113,915,037 (GRCm39)		probably benign	Het
Kif6	A	G	17: 50,014,647 (GRCm39)	D250G	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lcn6	T	A	2: 25,570,079 (GRCm39)	C82S	probably damaging	Het
Mob4	C	G	1: 55,190,161 (GRCm39)	L135V	possibly damaging	Het
Mpzl3	T	A	9: 44,973,554 (GRCm39)		probably benign	Het
Mvp	T	C	7: 126,588,970 (GRCm39)	D599G	probably damaging	Het
Myo1a	T	C	10: 127,552,178 (GRCm39)	Y766H	probably benign	Het
Myo5b	A	G	18: 74,760,264 (GRCm39)	H260R	probably damaging	Het
Nbea	C	T	3: 55,992,667 (GRCm39)	R313H	probably damaging	Het
Necab1	T	A	4: 14,978,216 (GRCm39)	D211V	probably damaging	Het
Nefl	G	T	14: 68,324,212 (GRCm39)		probably benign	Het
Nfx1	T	A	4: 40,976,375 (GRCm39)	D16E	probably benign	Het
Nlrp9a	G	T	7: 26,269,964 (GRCm39)	C797F	probably damaging	Het
Or4k36	T	A	2: 111,146,163 (GRCm39)	V113E	probably damaging	Het
Or5p5	A	G	7: 107,413,953 (GRCm39)	Q56R	probably benign	Het
Pde6b	A	G	5: 108,573,130 (GRCm39)	D500G	probably benign	Het
Pgs1	T	C	11: 117,896,719 (GRCm39)		probably null	Het
Polr3b	T	A	10: 84,473,988 (GRCm39)	I189N	probably damaging	Het
Ppwd1	A	T	13: 104,356,616 (GRCm39)	S300T	probably benign	Het
Prl2c2	A	C	13: 13,176,755 (GRCm39)	N55K	possibly damaging	Het
Prpf19	C	T	19: 10,876,709 (GRCm39)		probably benign	Het
Prph2	G	T	17: 47,221,733 (GRCm39)	L37F	possibly damaging	Het
Ptprg	G	T	14: 12,226,427 (GRCm38)	R565L	possibly damaging	Het
Rab8a	C	T	8: 72,925,119 (GRCm39)	T74M	probably damaging	Het
Rexo1	A	T	10: 80,385,527 (GRCm39)	F510L	probably damaging	Het
Rexo2	G	T	9: 48,390,689 (GRCm39)	T51K	probably damaging	Het
Sh3d21	T	C	4: 126,046,209 (GRCm39)	K147R	possibly damaging	Het
Skint6	A	G	4: 112,692,265 (GRCm39)	I1062T	probably benign	Het
Spag16	C	T	1: 70,764,087 (GRCm39)	R636W	probably damaging	Het
Spata16	T	C	3: 26,894,872 (GRCm39)	I307T	possibly damaging	Het
Speer4f2	T	G	5: 17,579,423 (GRCm39)	I74S	probably benign	Het
Svep1	T	A	4: 58,087,778 (GRCm39)	Y1767F	possibly damaging	Het
Swt1	T	C	1: 151,299,293 (GRCm39)	S7G	probably benign	Het
Tex9	A	G	9: 72,385,620 (GRCm39)		probably null	Het
Thsd7b	C	A	1: 130,116,309 (GRCm39)	P1354H	probably damaging	Het
Ticrr	A	G	7: 79,319,416 (GRCm39)	D467G	probably damaging	Het
Tmco5b	A	C	2: 113,127,338 (GRCm39)	D303A	probably damaging	Het
Trpm7	A	G	2: 126,665,978 (GRCm39)	V876A	probably damaging	Het
Ttc21a	G	A	9: 119,774,027 (GRCm39)	E245K	probably benign	Het
Vezt	C	T	10: 93,836,212 (GRCm39)		probably null	Het
Zscan20	G	A	4: 128,486,152 (GRCm39)	P183S	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
R4675:F13b	UTSW	1	139,429,542 (GRCm39)	missense	unknown
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'- CAGACATGTTTATTGTTGTCCTTGC -3'
(R):5'- AGCATTAGTGTCTGTCCATGAATAG -3'

Sequencing Primer
(F):5'- GCTCTCATTCACAATCCTCCCATG -3'
(R):5'- TGTCCATGAATAGACAGACTGAAAAC -3'

Posted On

2016-04-27