Mutagenetix > Incidental Mutation

Incidental Mutation 'R0415:Habp2'

40289

Institutional Source

Beutler Lab

Gene Symbol

Habp2

Ensembl Gene

ENSMUSG00000025075

Gene Name

hyaluronic acid binding protein 2

Synonyms

FSAP

MMRRC Submission

038617-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R0415 (G1)

Quality Score

191

Status

Validated

Chromosome

Chromosomal Location

56287137-56320822 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 56317717 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126235 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040711] [ENSMUST00000073536] [ENSMUST00000078284] [ENSMUST00000095947] [ENSMUST00000095948] [ENSMUST00000163502] [ENSMUST00000165522] [ENSMUST00000166049] [ENSMUST00000166203] [ENSMUST00000167239] [ENSMUST00000171341]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000040711

SMART Domains

Protein: ENSMUSP00000048364
Gene: ENSMUSG00000049134

Domain	Start	End	E-Value	Type
LIM	5	57	5.39e-11	SMART
NEBU	64	94	2.17e1	SMART
NEBU	168	197	1.94e-4	SMART
NEBU	202	232	1.39e-5	SMART
NEBU	239	268	2.23e-4	SMART
NEBU	308	337	2.83e-6	SMART
NEBU	346	376	3.82e-3	SMART
NEBU	382	412	1.18e-3	SMART
NEBU	450	480	8.97e-9	SMART
NEBU	485	515	1.73e-10	SMART
NEBU	521	551	8.12e-7	SMART
NEBU	555	585	1.73e-1	SMART
NEBU	590	620	2.33e-7	SMART
NEBU	621	651	1.49e-5	SMART
NEBU	655	686	5.12e-4	SMART
NEBU	689	719	8.12e-7	SMART
NEBU	724	754	2.64e-6	SMART
NEBU	760	790	3.48e-6	SMART
NEBU	798	828	2.35e-3	SMART
NEBU	833	863	6.11e-2	SMART
NEBU	864	894	1.69e-4	SMART
NEBU	899	929	3.88e-4	SMART
NEBU	932	962	4e-6	SMART
NEBU	967	997	4.22e-5	SMART
NEBU	1003	1033	2.64e-6	SMART
NEBU	1041	1071	3.68e-5	SMART
NEBU	1076	1106	4.16e-4	SMART
NEBU	1107	1137	1.1e-3	SMART
NEBU	1142	1172	1.68e1	SMART
NEBU	1175	1205	4.59e-6	SMART
NEBU	1210	1240	4.06e-7	SMART
NEBU	1246	1276	1.99e-1	SMART
NEBU	1284	1314	1.85e-1	SMART
NEBU	1319	1349	1.39e-5	SMART
NEBU	1350	1380	4.03e-2	SMART
NEBU	1385	1415	1.76e-2	SMART
NEBU	1418	1448	2.09e0	SMART
NEBU	1453	1483	6.4e-5	SMART
NEBU	1489	1519	8.63e-1	SMART
NEBU	1527	1557	1.33e-2	SMART
NEBU	1562	1592	1.84e-5	SMART
NEBU	1593	1623	7.24e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000073536

SMART Domains

Protein: ENSMUSP00000073228
Gene: ENSMUSG00000049134

Domain	Start	End	E-Value	Type
LIM	5	57	5.39e-11	SMART
NEBU	64	94	2.17e1	SMART
NEBU	168	197	1.94e-4	SMART
NEBU	202	232	1.39e-5	SMART
NEBU	239	268	2.23e-4	SMART
NEBU	308	337	2.83e-6	SMART
NEBU	346	376	7.24e-4	SMART
NEBU	381	411	3.46e-1	SMART
NEBU	417	447	1.18e-3	SMART
NEBU	485	515	8.97e-9	SMART
NEBU	520	550	1.73e-10	SMART
NEBU	556	586	8.12e-7	SMART
NEBU	590	620	1.73e-1	SMART
NEBU	625	655	2.33e-7	SMART
NEBU	656	686	1.49e-5	SMART
NEBU	690	721	5.12e-4	SMART
NEBU	724	754	8.12e-7	SMART
NEBU	759	789	2.64e-6	SMART
NEBU	795	825	3.48e-6	SMART
NEBU	833	863	2.35e-3	SMART
NEBU	868	898	6.11e-2	SMART
NEBU	899	929	1.69e-4	SMART
NEBU	934	964	3.88e-4	SMART
NEBU	967	997	4e-6	SMART
NEBU	1002	1032	4.22e-5	SMART
NEBU	1038	1068	2.64e-6	SMART
NEBU	1076	1106	3.68e-5	SMART
NEBU	1111	1141	4.16e-4	SMART
NEBU	1142	1172	1.1e-3	SMART
NEBU	1177	1207	1.68e1	SMART
NEBU	1210	1240	4.59e-6	SMART
NEBU	1245	1275	4.06e-7	SMART
NEBU	1281	1311	1.99e-1	SMART
NEBU	1319	1349	1.85e-1	SMART
NEBU	1354	1384	1.39e-5	SMART
NEBU	1385	1415	4.03e-2	SMART
NEBU	1420	1450	1.76e-2	SMART
NEBU	1453	1483	2.09e0	SMART
NEBU	1488	1518	6.4e-5	SMART
NEBU	1524	1554	8.63e-1	SMART
NEBU	1562	1592	1.33e-2	SMART
NEBU	1597	1627	1.84e-5	SMART
NEBU	1628	1658	7.24e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000078284

SMART Domains

Protein: ENSMUSP00000077402
Gene: ENSMUSG00000025075

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	28	42	N/A	INTRINSIC
EGF	70	103	4.66e-6	SMART
EGF	108	142	3.97e0	SMART
EGF	147	182	2.26e-4	SMART
KR	186	272	2.72e-39	SMART
Tryp_SPc	307	544	1.47e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095947

SMART Domains

Protein: ENSMUSP00000093640
Gene: ENSMUSG00000049134

Domain	Start	End	E-Value	Type
NEBU	86	115	1.2e-6	SMART
NEBU	120	150	9.1e-8	SMART
NEBU	157	186	1.4e-6	SMART
NEBU	226	255	1.8e-8	SMART
NEBU	264	294	2.5e-5	SMART
NEBU	300	330	7.8e-6	SMART
NEBU	368	398	6e-11	SMART
NEBU	403	433	1.1e-12	SMART
NEBU	439	469	5.2e-9	SMART
NEBU	473	503	1.1e-3	SMART
NEBU	508	538	1.5e-9	SMART
NEBU	539	569	1e-7	SMART
NEBU	573	604	3.3e-6	SMART
NEBU	607	637	5.4e-9	SMART
NEBU	642	672	1.7e-8	SMART
NEBU	678	708	2.3e-8	SMART
NEBU	716	746	1.5e-5	SMART
NEBU	751	781	4.1e-4	SMART
NEBU	782	812	1.1e-6	SMART
NEBU	817	847	2.6e-6	SMART
NEBU	850	880	2.6e-8	SMART
NEBU	885	915	2.7e-7	SMART
NEBU	921	951	1.7e-8	SMART
NEBU	959	989	2.4e-7	SMART
NEBU	994	1024	2.7e-6	SMART
NEBU	1025	1055	7.2e-6	SMART
NEBU	1060	1090	1.1e-1	SMART
NEBU	1093	1123	3e-8	SMART
NEBU	1128	1158	2.6e-9	SMART
NEBU	1164	1194	1.3e-3	SMART
NEBU	1202	1232	1.2e-3	SMART
NEBU	1237	1267	8.8e-8	SMART
NEBU	1268	1298	2.7e-4	SMART
NEBU	1303	1333	1.2e-4	SMART
NEBU	1336	1366	1.4e-2	SMART
NEBU	1371	1401	4.3e-7	SMART
NEBU	1407	1437	5.6e-3	SMART
NEBU	1445	1475	8.8e-5	SMART
NEBU	1480	1510	1.2e-7	SMART
NEBU	1511	1541	4.8e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095948

SMART Domains

Protein: ENSMUSP00000093641
Gene: ENSMUSG00000025075

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
EGF	33	66	4.66e-6	SMART
EGF	71	105	3.97e0	SMART
EGF	110	145	2.26e-4	SMART
KR	149	235	2.72e-39	SMART
Tryp_SPc	270	507	1.47e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163502

SMART Domains

Protein: ENSMUSP00000128964
Gene: ENSMUSG00000025075

Domain	Start	End	E-Value	Type
KR	1	41	5.87e-6	SMART
Tryp_SPc	76	220	5.6e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165522

SMART Domains

Protein: ENSMUSP00000130809
Gene: ENSMUSG00000025075

Domain	Start	End	E-Value	Type
Pfam:Trypsin	41	106	6.4e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166049

SMART Domains

Protein: ENSMUSP00000132444
Gene: ENSMUSG00000025075

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	28	42	N/A	INTRINSIC
EGF	70	103	4.66e-6	SMART
EGF	108	142	3.97e0	SMART
EGF	147	182	2.26e-4	SMART
KR	186	272	2.72e-39	SMART
Tryp_SPc	302	539	1.47e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166203

SMART Domains

Protein: ENSMUSP00000132582
Gene: ENSMUSG00000049134

Domain	Start	End	E-Value	Type
LIM	5	57	5.39e-11	SMART
NEBU	64	94	2.17e1	SMART
NEBU	168	197	1.94e-4	SMART
NEBU	202	232	1.39e-5	SMART
NEBU	239	268	2.23e-4	SMART
NEBU	308	337	2.83e-6	SMART
NEBU	346	376	7.24e-4	SMART
NEBU	381	411	3.46e-1	SMART
NEBU	417	447	1.18e-3	SMART
NEBU	485	515	8.97e-9	SMART
NEBU	520	550	1.06e-10	SMART
NEBU	554	584	1.73e-1	SMART
NEBU	589	619	2.33e-7	SMART
NEBU	620	650	1.49e-5	SMART
NEBU	654	685	5.12e-4	SMART
NEBU	688	718	8.12e-7	SMART
NEBU	723	753	2.64e-6	SMART
NEBU	759	789	3.48e-6	SMART
NEBU	797	827	2.35e-3	SMART
NEBU	832	862	6.11e-2	SMART
NEBU	863	893	1.69e-4	SMART
NEBU	898	928	3.88e-4	SMART
NEBU	931	961	4e-6	SMART
NEBU	966	996	4.22e-5	SMART
NEBU	1002	1032	2.64e-6	SMART
NEBU	1040	1070	3.68e-5	SMART
NEBU	1075	1105	4.16e-4	SMART
NEBU	1106	1136	1.1e-3	SMART
NEBU	1141	1171	1.68e1	SMART
NEBU	1174	1204	4.59e-6	SMART
NEBU	1209	1239	4.06e-7	SMART
NEBU	1245	1275	1.99e-1	SMART
NEBU	1283	1313	1.85e-1	SMART
NEBU	1318	1348	1.39e-5	SMART
NEBU	1349	1379	4.03e-2	SMART
NEBU	1384	1414	1.76e-2	SMART
NEBU	1417	1447	2.09e0	SMART
NEBU	1452	1482	6.4e-5	SMART
NEBU	1488	1518	8.63e-1	SMART
NEBU	1526	1556	1.33e-2	SMART
NEBU	1561	1591	1.84e-5	SMART
NEBU	1592	1622	7.24e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167239

SMART Domains

Protein: ENSMUSP00000128196
Gene: ENSMUSG00000049134

Domain	Start	End	E-Value	Type
LIM	5	57	5.39e-11	SMART
NEBU	64	94	2.17e1	SMART
NEBU	168	197	1.94e-4	SMART
NEBU	202	232	1.39e-5	SMART
NEBU	239	268	2.23e-4	SMART
NEBU	308	337	2.83e-6	SMART
NEBU	346	376	3.82e-3	SMART
NEBU	382	412	1.18e-3	SMART
NEBU	450	480	8.97e-9	SMART
NEBU	485	515	1.73e-10	SMART
NEBU	521	551	8.12e-7	SMART
NEBU	555	585	1.73e-1	SMART
NEBU	590	620	2.33e-7	SMART
NEBU	621	651	1.49e-5	SMART
NEBU	655	686	5.12e-4	SMART
NEBU	689	719	8.12e-7	SMART
NEBU	724	754	2.64e-6	SMART
NEBU	760	790	3.48e-6	SMART
NEBU	798	828	2.35e-3	SMART
NEBU	833	863	6.11e-2	SMART
NEBU	864	894	1.69e-4	SMART
NEBU	899	929	3.88e-4	SMART
NEBU	932	962	4e-6	SMART
NEBU	967	997	4.22e-5	SMART
NEBU	1003	1033	2.64e-6	SMART
NEBU	1041	1071	3.68e-5	SMART
NEBU	1076	1106	4.16e-4	SMART
NEBU	1107	1137	1.1e-3	SMART
NEBU	1142	1172	1.68e1	SMART
NEBU	1175	1205	4.59e-6	SMART
NEBU	1210	1240	4.06e-7	SMART
NEBU	1246	1276	1.99e-1	SMART
NEBU	1284	1314	1.85e-1	SMART
NEBU	1319	1349	1.39e-5	SMART
NEBU	1350	1380	4.03e-2	SMART
NEBU	1385	1415	3.06e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169099

SMART Domains

Protein: ENSMUSP00000125889
Gene: ENSMUSG00000049134

Domain	Start	End	E-Value	Type
NEBU	32	61	2.83e-6	SMART
NEBU	70	100	7.24e-4	SMART
NEBU	105	135	3.46e-1	SMART
NEBU	141	171	1.18e-3	SMART
NEBU	209	239	8.97e-9	SMART
NEBU	244	274	1.73e-10	SMART
NEBU	280	310	8.12e-7	SMART
NEBU	314	344	1.73e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171341

SMART Domains

Protein: ENSMUSP00000126235
Gene: ENSMUSG00000025075

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
low complexity region	28	42	N/A	INTRINSIC
EGF	70	103	4.66e-6	SMART
EGF	108	142	3.97e0	SMART
EGF	147	182	2.26e-4	SMART
KR	186	272	2.72e-39	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (99/102)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the peptidase S1 family of serine proteases. The encoded preproprotein is secreted by hepatocytes and proteolytically processed to generate heavy and light chains that form the mature heterodimer. Further autoproteolysis leads to smaller, inactive peptides. This extracellular protease binds hyaluronic acid and may play a role in the coagulation and fibrinolysis systems. Mutations in this gene are associated with nonmedullary thyroid cancer and susceptibility to venous thromboembolism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased lethality but increased liver fibrosis, inflammation and injury following bile duct ligation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427G23Rik	A	T	5: 23,831,050 (GRCm38)		noncoding transcript	Het
Acox2	A	G	14: 8,243,835 (GRCm38)		probably benign	Het
Adgb	T	C	10: 10,431,067 (GRCm38)		probably null	Het
Adgra3	C	A	5: 49,961,757 (GRCm38)		probably benign	Het
Adgre4	G	A	17: 55,852,288 (GRCm38)	V658I	probably benign	Het
Ahnak	A	G	19: 9,012,871 (GRCm38)		probably benign	Het
Anapc2	A	G	2: 25,278,325 (GRCm38)	T159A	probably damaging	Het
Arfgef3	A	G	10: 18,613,127 (GRCm38)		probably benign	Het
Atf7ip	C	T	6: 136,560,012 (GRCm38)	S81L	possibly damaging	Het
Cacna1i	A	G	15: 80,368,830 (GRCm38)		probably benign	Het
Camk1	A	T	6: 113,341,891 (GRCm38)	Y20*	probably null	Het
Ccdc40	T	C	11: 119,232,118 (GRCm38)	Y249H	possibly damaging	Het
Cd109	T	A	9: 78,712,615 (GRCm38)	S1380T	probably benign	Het
Cfap57	A	T	4: 118,569,431 (GRCm38)	L1107Q	possibly damaging	Het
Col6a4	C	T	9: 106,075,080 (GRCm38)	V540I	probably damaging	Het
Cst9	T	A	2: 148,838,442 (GRCm38)		probably benign	Het
Cul5	C	T	9: 53,667,070 (GRCm38)	V73I	probably benign	Het
Cxcl16	T	A	11: 70,458,748 (GRCm38)	K84*	probably null	Het
Cyp2c29	T	C	19: 39,329,095 (GRCm38)		probably benign	Het
D6Ertd527e	C	G	6: 87,111,524 (GRCm38)	T223S	unknown	Het
Dip2c	C	T	13: 9,568,289 (GRCm38)		probably benign	Het
Dis3	A	T	14: 99,087,456 (GRCm38)	I513N	probably damaging	Het
Dnajc16	A	T	4: 141,789,048 (GRCm38)	L3*	probably null	Het
Dopey1	T	A	9: 86,506,502 (GRCm38)	L480M	probably damaging	Het
Eml6	A	G	11: 29,749,392 (GRCm38)	V1787A	possibly damaging	Het
Etnk1	A	G	6: 143,180,774 (GRCm38)	N115S	probably damaging	Het
Fryl	T	C	5: 73,098,414 (GRCm38)	Y758C	probably damaging	Het
Gbp4	G	A	5: 105,121,106 (GRCm38)	R394C	possibly damaging	Het
Ggnbp2	A	C	11: 84,833,225 (GRCm38)		probably benign	Het
Gm7137	A	G	10: 77,788,173 (GRCm38)		probably benign	Het
Gstm2	T	A	3: 107,984,006 (GRCm38)	Q132L	probably benign	Het
Hectd2	T	C	19: 36,584,884 (GRCm38)		probably benign	Het
Htr6	A	G	4: 139,062,081 (GRCm38)	I291T	possibly damaging	Het
Ighg2c	T	C	12: 113,287,910 (GRCm38)	D199G	unknown	Het
Itih2	A	G	2: 10,105,615 (GRCm38)		probably benign	Het
Kcnab2	A	G	4: 152,395,136 (GRCm38)	F248S	probably benign	Het
Kcnc4	T	C	3: 107,445,433 (GRCm38)	K610E	probably damaging	Het
Kcnk16	T	A	14: 20,262,975 (GRCm38)		probably null	Het
Kndc1	C	T	7: 139,930,124 (GRCm38)	T1293I	probably damaging	Het
Lcp1	A	T	14: 75,227,006 (GRCm38)	I556F	possibly damaging	Het
Lrrc8d	T	C	5: 105,811,865 (GRCm38)	L47P	probably damaging	Het
Lyst	T	C	13: 13,711,610 (GRCm38)		probably benign	Het
Macrod2	G	A	2: 142,210,145 (GRCm38)		probably null	Het
Micalcl	C	T	7: 112,381,028 (GRCm38)	R70C	probably damaging	Het
Mllt3	ACTGCTGCTGCTGCTGCTGCT	ACTGCTGCTGCTGCTGCT	4: 87,841,339 (GRCm38)		probably benign	Het
Msh3	A	G	13: 92,346,786 (GRCm38)	V283A	possibly damaging	Het
Nup205	T	C	6: 35,214,634 (GRCm38)		probably benign	Het
Nxpe2	T	C	9: 48,326,614 (GRCm38)	T114A	probably damaging	Het
Olfr1023	A	T	2: 85,887,438 (GRCm38)	I213F	possibly damaging	Het
Olfr1034	A	T	2: 86,047,055 (GRCm38)	H191L	probably benign	Het
Olfr229	A	G	9: 39,909,983 (GRCm38)	Y60C	probably damaging	Het
Olfr78	C	T	7: 102,742,087 (GRCm38)	M305I	probably benign	Het
Olfr893	A	T	9: 38,209,973 (GRCm38)	M305L	probably benign	Het
Pard3	G	A	8: 127,610,566 (GRCm38)	G1221D	probably damaging	Het
Pax5	G	A	4: 44,691,886 (GRCm38)	A120V	probably damaging	Het
Pcsk6	C	T	7: 66,033,874 (GRCm38)	R746C	probably damaging	Het
Pif1	G	A	9: 65,588,051 (GRCm38)	C81Y	probably benign	Het
Plcb1	A	G	2: 135,337,499 (GRCm38)	Y609C	probably damaging	Het
Plcd4	C	A	1: 74,552,097 (GRCm38)	S217Y	probably damaging	Het
Plxna1	G	A	6: 89,357,336 (GRCm38)	H104Y	probably benign	Het
Polr2k	A	G	15: 36,175,456 (GRCm38)	Y45C	probably damaging	Het
Pqlc3	C	A	12: 16,997,710 (GRCm38)		probably benign	Het
Prex1	A	G	2: 166,586,699 (GRCm38)		probably benign	Het
Pth2r	A	G	1: 65,388,439 (GRCm38)	M424V	probably benign	Het
Pygm	A	G	19: 6,391,366 (GRCm38)	R464G	probably benign	Het
Rad51c	A	G	11: 87,397,655 (GRCm38)	L234P	probably damaging	Het
Rnf145	A	G	11: 44,525,138 (GRCm38)	Y60C	probably damaging	Het
Rnf167	T	C	11: 70,649,699 (GRCm38)	I135T	probably damaging	Het
Rnf213	A	T	11: 119,414,469 (GRCm38)	I509F	probably damaging	Het
Ryr2	T	C	13: 11,869,156 (GRCm38)	S213G	probably damaging	Het
Selenbp1	T	C	3: 94,936,913 (GRCm38)	V27A	possibly damaging	Het
Selenof	T	G	3: 144,577,692 (GRCm38)	L14R	probably damaging	Het
Sfswap	A	T	5: 129,504,126 (GRCm38)	D121V	probably damaging	Het
Slc25a34	C	A	4: 141,620,469 (GRCm38)	M300I	possibly damaging	Het
Slc34a3	T	G	2: 25,229,110 (GRCm38)	T583P	probably benign	Het
Smg1	C	A	7: 118,182,468 (GRCm38)	A1199S	probably benign	Het
Spint1	A	G	2: 119,245,615 (GRCm38)	T231A	probably damaging	Het
Sptbn1	A	C	11: 30,149,576 (GRCm38)	N229K	probably damaging	Het
Sult2b1	A	G	7: 45,730,092 (GRCm38)		probably benign	Het
Tas2r123	A	T	6: 132,847,838 (GRCm38)	M233L	probably damaging	Het
Tbcel	C	A	9: 42,444,500 (GRCm38)	C139F	probably benign	Het
Thbs2	A	C	17: 14,679,973 (GRCm38)	S573A	probably benign	Het
Tmem132c	A	G	5: 127,563,705 (GRCm38)	E980G	probably damaging	Het
Tmem247	G	T	17: 86,922,322 (GRCm38)	C197F	probably damaging	Het
Tmem251	T	A	12: 102,744,876 (GRCm38)	Y119*	probably null	Het
Tmem43	C	A	6: 91,482,318 (GRCm38)	P257Q	probably benign	Het
Tmprss13	A	G	9: 45,337,132 (GRCm38)		probably null	Het
Trove2	G	T	1: 143,760,075 (GRCm38)	N444K	probably benign	Het
Ubr5	T	C	15: 37,972,980 (GRCm38)	T2626A	probably damaging	Het
Vmn1r196	T	A	13: 22,293,836 (GRCm38)	V215D	probably damaging	Het
Vmn1r22	G	T	6: 57,900,332 (GRCm38)	T220K	probably benign	Het
Vmn2r116	G	A	17: 23,387,279 (GRCm38)	M388I	possibly damaging	Het
Vmn2r74	A	C	7: 85,961,410 (GRCm38)	C25G	probably damaging	Het
Xndc1	T	C	7: 102,080,616 (GRCm38)		probably benign	Het
Zfp282	T	A	6: 47,905,053 (GRCm38)	I558N	possibly damaging	Het
Zfp282	A	G	6: 47,897,881 (GRCm38)	D340G	probably damaging	Het
Zfp316	T	A	5: 143,264,491 (GRCm38)	T56S	unknown	Het
Zfp345	A	G	2: 150,474,559 (GRCm38)		probably benign	Het

Other mutations in Habp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00272:Habp2	APN	19	56,317,832 (GRCm38)	missense	probably damaging	1.00
IGL01113:Habp2	APN	19	56,310,116 (GRCm38)	missense	probably benign	0.13
IGL01737:Habp2	APN	19	56,316,307 (GRCm38)	missense	probably benign	0.00
IGL02174:Habp2	APN	19	56,311,737 (GRCm38)	missense	probably damaging	0.96
IGL02250:Habp2	APN	19	56,308,929 (GRCm38)	missense	probably benign	0.00
IGL02706:Habp2	APN	19	56,310,138 (GRCm38)	critical splice donor site	probably null
IGL02953:Habp2	APN	19	56,314,232 (GRCm38)	critical splice donor site	probably null
IGL02986:Habp2	APN	19	56,311,192 (GRCm38)	missense	probably benign	0.25
IGL03010:Habp2	APN	19	56,311,223 (GRCm38)	critical splice donor site	probably null
R0483:Habp2	UTSW	19	56,316,432 (GRCm38)	unclassified	probably benign
R0627:Habp2	UTSW	19	56,314,046 (GRCm38)	missense	probably damaging	1.00
R1188:Habp2	UTSW	19	56,311,722 (GRCm38)	missense	probably benign	0.39
R1880:Habp2	UTSW	19	56,317,828 (GRCm38)	missense	possibly damaging	0.83
R2214:Habp2	UTSW	19	56,317,817 (GRCm38)	missense	possibly damaging	0.88
R2473:Habp2	UTSW	19	56,288,032 (GRCm38)	missense	possibly damaging	0.92
R2869:Habp2	UTSW	19	56,287,991 (GRCm38)	unclassified	probably benign
R2871:Habp2	UTSW	19	56,287,991 (GRCm38)	unclassified	probably benign
R3917:Habp2	UTSW	19	56,311,179 (GRCm38)	missense	probably damaging	1.00
R3969:Habp2	UTSW	19	56,311,701 (GRCm38)	missense	probably damaging	1.00
R4014:Habp2	UTSW	19	56,319,622 (GRCm38)	missense	probably benign	0.04
R4853:Habp2	UTSW	19	56,311,191 (GRCm38)	splice site	probably null
R5835:Habp2	UTSW	19	56,306,786 (GRCm38)	missense	probably benign	0.16
R6270:Habp2	UTSW	19	56,306,863 (GRCm38)	missense	possibly damaging	0.93
R6390:Habp2	UTSW	19	56,306,823 (GRCm38)	missense	possibly damaging	0.63
R7110:Habp2	UTSW	19	56,311,164 (GRCm38)	nonsense	probably null
R7268:Habp2	UTSW	19	56,314,086 (GRCm38)	missense	probably damaging	1.00
R7456:Habp2	UTSW	19	56,319,525 (GRCm38)	missense	probably damaging	1.00
R7583:Habp2	UTSW	19	56,311,804 (GRCm38)	missense	probably benign	0.03
R8021:Habp2	UTSW	19	56,314,053 (GRCm38)	missense	probably benign	0.04
R8354:Habp2	UTSW	19	56,312,956 (GRCm38)	nonsense	probably null
R8383:Habp2	UTSW	19	56,316,336 (GRCm38)	missense	probably damaging	1.00
R8813:Habp2	UTSW	19	56,306,784 (GRCm38)	missense	probably benign	0.08
R9140:Habp2	UTSW	19	56,319,502 (GRCm38)	missense	probably benign	0.03
R9367:Habp2	UTSW	19	56,316,349 (GRCm38)	missense	probably damaging	1.00
R9515:Habp2	UTSW	19	56,306,821 (GRCm38)	missense	probably benign	0.00
Z1176:Habp2	UTSW	19	56,317,760 (GRCm38)	missense	probably damaging	1.00
Z1177:Habp2	UTSW	19	56,319,553 (GRCm38)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AGAACGACTTTGAAAACGCACATGC -3'
(R):5'- TGACCCATCTTGATGTAGCCCACC -3'

Sequencing Primer
(F):5'- CGTGGAGTGAGAAGGATGC -3'
(R):5'- AGCTGGATCTTCAGTGAGCC -3'

Posted On

2013-05-23