Mutagenetix > Incidental Mutation

Incidental Mutation 'R5503:F13b'

430711

Institutional Source

Beutler Lab

Gene Symbol

F13b

Ensembl Gene

ENSMUSG00000026368

Gene Name

coagulation factor XIII, beta subunit

Synonyms

Cf-13b, Cf13b

MMRRC Submission

043064-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5503 (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 139450281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 648 (T648A)

Ref Sequence

ENSEMBL: ENSMUSP00000027615 (fasta)

Gene Model

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

AlphaFold

Q07968

Predicted Effect

probably benign
Transcript: ENSMUST00000027615
AA Change: T648A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000027615
Gene: ENSMUSG00000026368
AA Change: T648A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.3%
3x: 97.4%
10x: 95.4%
20x: 91.5%

Validation Efficiency

96% (103/107)

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
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
Abca6	A	G	11: 110,109,083 (GRCm39)	S696P	probably damaging	Het
Abca9	G	A	11: 110,032,436 (GRCm39)	T727M	probably damaging	Het
Alpk2	T	C	18: 65,439,312 (GRCm39)	R1161G	probably benign	Het
Amy1	T	C	3: 113,349,709 (GRCm39)	D487G	probably benign	Het
Arap2	G	A	5: 62,787,529 (GRCm39)	A1409V	probably damaging	Het
B4galt6	C	A	18: 20,878,409 (GRCm39)		probably null	Het
Cacna1s	G	A	1: 136,014,480 (GRCm39)	G382D	probably damaging	Het
Camk2a	A	G	18: 61,111,072 (GRCm39)	D87G	probably damaging	Het
Cdh18	A	G	15: 23,436,620 (GRCm39)	Y492C	probably damaging	Het
Cert1	C	T	13: 96,679,747 (GRCm39)	R26C	possibly damaging	Het
Col18a1	C	T	10: 76,907,454 (GRCm39)	G861D	probably damaging	Het
Crybg1	C	A	10: 43,874,762 (GRCm39)	S782I	probably benign	Het
Csgalnact1	G	A	8: 68,914,125 (GRCm39)	L27F	probably damaging	Het
Dab1	T	A	4: 104,369,461 (GRCm39)	C3S	probably benign	Het
Dapk1	T	C	13: 60,873,126 (GRCm39)	F343L	probably benign	Het
Dgat1	A	T	15: 76,386,394 (GRCm39)		probably benign	Het
Dnah11	C	A	12: 117,844,186 (GRCm39)		probably null	Het
Dsg2	T	A	18: 20,713,708 (GRCm39)	Y226*	probably null	Het
Epg5	T	A	18: 77,994,422 (GRCm39)	M351K	possibly damaging	Het
Fgf17	T	C	14: 70,874,408 (GRCm39)	Y127C	probably damaging	Het
Fkbp15	G	A	4: 62,246,124 (GRCm39)	P435S	probably benign	Het
Gfm1	G	A	3: 67,361,060 (GRCm39)		probably null	Het
Gigyf1	T	C	5: 137,521,729 (GRCm39)		probably benign	Het
Gm12830	A	T	4: 114,678,936 (GRCm39)	T6S	unknown	Het
Gm6465	A	T	5: 11,898,150 (GRCm39)	N88I	probably damaging	Het
Gpr18	C	T	14: 122,149,159 (GRCm39)	V289I	probably damaging	Het
Ipp	G	T	4: 116,395,135 (GRCm39)	E557*	probably null	Het
Klhl12	T	A	1: 134,413,653 (GRCm39)		probably null	Het
Klhl38	A	G	15: 58,185,745 (GRCm39)	V328A	possibly damaging	Het
Kndc1	A	G	7: 139,511,802 (GRCm39)	T1470A	probably damaging	Het
Kntc1	T	A	5: 123,957,939 (GRCm39)	D2173E	possibly damaging	Het
Lipi	T	C	16: 75,370,864 (GRCm39)	K118E	probably benign	Het
Marf1	A	C	16: 13,970,095 (GRCm39)	L208R	probably damaging	Het
Misp	G	A	10: 79,662,552 (GRCm39)	R323K	probably damaging	Het
Mlxip	T	A	5: 123,533,390 (GRCm39)	M133K	probably damaging	Het
Mon2	A	T	10: 122,868,550 (GRCm39)	M501K	possibly damaging	Het
Myh2	A	G	11: 67,064,275 (GRCm39)	I77V	probably benign	Het
Napa	C	A	7: 15,849,549 (GRCm39)	Q254K	probably benign	Het
Nckap5l	C	A	15: 99,323,503 (GRCm39)	G1000V	probably damaging	Het
Neo1	A	T	9: 58,892,933 (GRCm39)	S236R	possibly damaging	Het
Neurl4	T	A	11: 69,797,194 (GRCm39)	Y594N	probably damaging	Het
Nmral1	G	A	16: 4,533,493 (GRCm39)	P94L	probably benign	Het
Notch3	A	T	17: 32,366,029 (GRCm39)	I1024N	probably benign	Het
Nsd1	T	A	13: 55,393,752 (GRCm39)	I451K	probably damaging	Het
Nt5c3b	T	C	11: 100,323,883 (GRCm39)	D143G	probably benign	Het
Oplah	A	G	15: 76,189,646 (GRCm39)		probably null	Het
Or13a17	A	C	7: 140,271,309 (GRCm39)	M164L	probably benign	Het
Or2ak4	T	A	11: 58,649,154 (GRCm39)	V221E	probably damaging	Het
Or6b2b	C	A	1: 92,418,918 (GRCm39)	K186N	probably benign	Het
Or7d10	A	G	9: 19,831,675 (GRCm39)	T57A	probably benign	Het
Or8b48	T	C	9: 38,493,368 (GRCm39)	V265A	probably benign	Het
Or8g19	A	G	9: 39,055,780 (GRCm39)	N128S	probably benign	Het
Phb2	T	A	6: 124,689,985 (GRCm39)		probably benign	Het
Plcl2	A	G	17: 50,816,957 (GRCm39)	I108V	probably benign	Het
Plpp6	T	A	19: 28,942,146 (GRCm39)	M249K	probably damaging	Het
Pnpt1	G	A	11: 29,088,156 (GRCm39)	G189E	probably damaging	Het
Pramel17	A	T	4: 101,692,999 (GRCm39)	Y334N	probably benign	Het
Ptprn	C	T	1: 75,228,519 (GRCm39)	V853M	probably damaging	Het
Ptprq	T	C	10: 107,524,189 (GRCm39)		probably null	Het
Rai1	G	A	11: 60,077,279 (GRCm39)	V448I	probably benign	Het
Rbm20	T	A	19: 53,839,785 (GRCm39)	C925S	possibly damaging	Het
Rin3	C	A	12: 102,279,314 (GRCm39)	P41Q	probably benign	Het
Rpl31-ps21	T	C	5: 21,324,505 (GRCm39)		noncoding transcript	Het
Rpl39-ps	A	T	15: 102,543,561 (GRCm39)		noncoding transcript	Het
Rtn4ip1	T	A	10: 43,783,879 (GRCm39)	D133E	probably benign	Het
Ryr1	T	C	7: 28,768,453 (GRCm39)	K2839E	possibly damaging	Het
Septin5	T	C	16: 18,442,118 (GRCm39)	K268R	probably benign	Het
Serpinb6b	T	A	13: 33,161,642 (GRCm39)	D238E	possibly damaging	Het
Slc15a2	C	T	16: 36,582,747 (GRCm39)	V214M	probably damaging	Het
Smarca2	T	C	19: 26,601,336 (GRCm39)	M18T	probably damaging	Het
Smarca2	C	A	19: 26,659,446 (GRCm39)	T912K	possibly damaging	Het
Smdt1	A	T	15: 82,232,101 (GRCm39)	R46S	possibly damaging	Het
Spa17	A	C	9: 37,523,273 (GRCm39)	F5V	probably damaging	Het
Spag17	A	G	3: 99,934,560 (GRCm39)	E614G	possibly damaging	Het
Sstr4	CGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	2: 148,237,471 (GRCm39)		probably benign	Het
Tlr1	A	T	5: 65,083,635 (GRCm39)	V314D	probably damaging	Het
Trappc8	A	T	18: 20,969,957 (GRCm39)	L1011Q	probably benign	Het
Tsga10	A	G	1: 37,800,028 (GRCm39)	*691Q	probably null	Het
Vav1	A	T	17: 57,610,079 (GRCm39)	K420*	probably null	Het
Vmn1r174	C	G	7: 23,453,562 (GRCm39)	T76R	probably benign	Het
Vmn2r116	A	G	17: 23,605,778 (GRCm39)	E230G	probably benign	Het
Vps13b	A	G	15: 35,452,312 (GRCm39)	T637A	probably damaging	Het
Zbtb7a	A	G	10: 80,980,631 (GRCm39)	E275G	probably damaging	Het
Zfp280b	A	G	10: 75,875,296 (GRCm39)		probably null	Het
Zfp763	A	G	17: 33,238,507 (GRCm39)	Y213H	possibly damaging	Het
Zfp78	T	A	7: 6,381,528 (GRCm39)	W161R	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
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
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'- CCAGAGCCTTGCACATTATCATTTG -3'
(R):5'- GCAATTGGACTCCAGGAAACTC -3'

Sequencing Primer
(F):5'- TGCACATTATCATTTGTTGAAATGG -3'
(R):5'- CTCAAAAACTTCCAGTGTTTAGTTG -3'

Posted On

2016-10-05