Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02709:Pros1'

304482

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pros1

Ensembl Gene

ENSMUSG00000022912

Gene Name

protein S (alpha)

Synonyms

protein S

Accession Numbers

Genbank: NM_011173; MGI: 1095733

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02709

Quality Score

Status

Chromosome

Chromosomal Location

62854307-62929346 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62898945 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 110 (L110P)

Ref Sequence

ENSEMBL: ENSMUSP00000023629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023629]

AlphaFold

Q08761

Predicted Effect

probably damaging
Transcript: ENSMUST00000023629
AA Change: L110P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023629
Gene: ENSMUSG00000022912
AA Change: L110P

Domain	Start	End	E-Value	Type
GLA	23	86	3.63e-31	SMART
EGF	120	155	4.39e-2	SMART
EGF_CA	157	200	6.91e-9	SMART
EGF_CA	201	242	5.23e-9	SMART
EGF_CA	243	283	1.1e-7	SMART
LamG	321	458	8.55e-22	SMART
LamG	506	646	1.57e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155940

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a vitamin K-dependent protein with key roles in multiple biological processes including coagulation, apoptosis and vasculogenesis. The encoded protein undergoes proteolytic processing to generate a mature protein which is secreted into the plasma. Mice lacking the encoded protein die in utero from a fulminant coagulopathy and associated hemorrhages. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit neonatal lethality associated with thrombosis, hemorrhage, and thrombocytopenia. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(2)

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	G	A	4: 40,180,199	V367M	possibly damaging	Het
Acsm5	G	A	7: 119,534,818	W274*	probably null	Het
Ago1	G	A	4: 126,453,640	Q135*	probably null	Het
AI314180	A	G	4: 58,872,699	S201P	possibly damaging	Het
Bmpr1b	A	T	3: 141,856,553	L291Q	probably damaging	Het
Cdcp1	A	G	9: 123,173,814	Y731H	probably damaging	Het
Clrn2	A	G	5: 45,460,153	N122S	probably damaging	Het
Col4a3	G	T	1: 82,679,112	G751W	unknown	Het
Ctsc	C	T	7: 88,308,139	A294V	probably damaging	Het
Cyp26a1	T	C	19: 37,699,978	L316P	probably damaging	Het
Dennd6b	A	T	15: 89,190,922		probably benign	Het
Dnah10	T	A	5: 124,773,745	Y1659*	probably null	Het
Dspp	A	C	5: 104,177,250	D493A	unknown	Het
Dyrk1a	C	T	16: 94,685,243	A445V	probably benign	Het
E030025P04Rik	C	A	11: 109,139,498		probably benign	Het
Foxd4	T	C	19: 24,899,609	H409R	probably damaging	Het
Fubp3	A	G	2: 31,595,331		probably benign	Het
Gm5538	A	G	3: 59,747,198	Y151C	probably damaging	Het
Herc1	A	G	9: 66,497,680	K4511E	probably damaging	Het
Ifna1	A	G	4: 88,850,286	D67G	probably benign	Het
Map1lc3b	T	A	8: 121,596,029	L82Q	probably damaging	Het
Mcc	A	T	18: 44,445,810	S844T	possibly damaging	Het
Mccc1	A	T	3: 35,990,739	*85K	probably null	Het
Memo1	G	A	17: 74,245,032	L90F	probably damaging	Het
Mfrp	A	G	9: 44,103,264	H236R	probably benign	Het
Mmrn1	G	A	6: 60,973,046	D327N	probably damaging	Het
Mycbp2	T	C	14: 103,155,261	E3178G	probably damaging	Het
Pcsk9	A	G	4: 106,447,689		probably benign	Het
Reck	A	G	4: 43,913,791	Y215C	probably damaging	Het
Ripk4	T	C	16: 97,743,566	D627G	probably damaging	Het
Rnf144a	G	T	12: 26,321,010	H151N	probably damaging	Het
Slc39a9	T	A	12: 80,666,647	H106Q	probably damaging	Het
Stab2	A	G	10: 86,846,165		probably benign	Het
Sympk	T	G	7: 19,047,538	H806Q	probably benign	Het
Tars2	C	A	3: 95,742,071		probably benign	Het
Thap3	T	A	4: 151,985,712	H75L	probably damaging	Het
Trappc8	T	C	18: 20,837,178	I918M	possibly damaging	Het
Ube2j2	T	C	4: 155,957,331	V249A	probably damaging	Het
Ubqln3	T	G	7: 104,141,336	T516P	probably benign	Het
Unc13c	A	G	9: 73,558,956	S1810P	probably benign	Het
Vmn1r4	T	A	6: 56,956,539	Y9*	probably null	Het
Vmn1r89	T	A	7: 13,220,204	M221K	probably damaging	Het
Vmn2r1	G	T	3: 64,104,934	V739F	probably benign	Het
Vmn2r25	C	T	6: 123,839,764	R286Q	possibly damaging	Het
Vmn2r91	T	A	17: 18,105,449	Y110N	possibly damaging	Het
Zbtb48	T	C	4: 152,021,394	H418R	probably damaging	Het

Other mutations in Pros1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00937:Pros1	APN	16	62910045	missense	probably damaging	0.99
IGL01300:Pros1	APN	16	62913811	missense	possibly damaging	0.85
IGL03080:Pros1	APN	16	62918143	missense	probably damaging	0.98
IGL03095:Pros1	APN	16	62907769	nonsense	probably null
F6893:Pros1	UTSW	16	62924639	missense	probably damaging	0.98
R0124:Pros1	UTSW	16	62913946	missense	possibly damaging	0.95
R0517:Pros1	UTSW	16	62903518	missense	probably benign	0.03
R1113:Pros1	UTSW	16	62913865	missense	probably damaging	0.99
R1308:Pros1	UTSW	16	62913865	missense	probably damaging	0.99
R1355:Pros1	UTSW	16	62919558	missense	probably benign	0.23
R1370:Pros1	UTSW	16	62919558	missense	probably benign	0.23
R1517:Pros1	UTSW	16	62885512	missense	probably damaging	0.98
R1866:Pros1	UTSW	16	62928135	missense	possibly damaging	0.86
R1876:Pros1	UTSW	16	62903518	missense	probably damaging	0.96
R2255:Pros1	UTSW	16	62903572	missense	possibly damaging	0.86
R2364:Pros1	UTSW	16	62913848	missense	probably damaging	0.99
R2369:Pros1	UTSW	16	62928069	missense	probably damaging	1.00
R2979:Pros1	UTSW	16	62913866	missense	probably damaging	0.99
R3724:Pros1	UTSW	16	62900329	missense	possibly damaging	0.86
R4056:Pros1	UTSW	16	62900645	nonsense	probably null
R4556:Pros1	UTSW	16	62900673	missense	possibly damaging	0.95
R4688:Pros1	UTSW	16	62889007	critical splice donor site	probably null
R4850:Pros1	UTSW	16	62885524	missense	probably damaging	0.98
R4923:Pros1	UTSW	16	62903572	missense	possibly damaging	0.86
R5008:Pros1	UTSW	16	62928185	missense	possibly damaging	0.53
R5370:Pros1	UTSW	16	62913976	missense	probably benign	0.01
R5580:Pros1	UTSW	16	62926326	critical splice acceptor site	probably null
R5930:Pros1	UTSW	16	62928061	missense	probably damaging	0.96
R5974:Pros1	UTSW	16	62900667	missense	probably damaging	0.98
R6233:Pros1	UTSW	16	62898921	missense	possibly damaging	0.47
R6949:Pros1	UTSW	16	62924575	missense	probably benign	0.01
R7055:Pros1	UTSW	16	62928102	missense	possibly damaging	0.85
R7347:Pros1	UTSW	16	62919523	missense	probably damaging	0.97
R7375:Pros1	UTSW	16	62924550	missense	probably damaging	0.96
R7419:Pros1	UTSW	16	62928070	nonsense	probably null
R7980:Pros1	UTSW	16	62928153	missense	possibly damaging	0.86
R8234:Pros1	UTSW	16	62928177	missense	possibly damaging	0.73
R8479:Pros1	UTSW	16	62907739	missense	probably damaging	1.00
R8514:Pros1	UTSW	16	62910109	missense	probably benign	0.03
R8827:Pros1	UTSW	16	62926464	missense	probably benign	0.13
R9131:Pros1	UTSW	16	62928034	missense	probably damaging	0.96
R9484:Pros1	UTSW	16	62924524	missense	possibly damaging	0.91

Posted On

2015-04-16