Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02526:Slit2'

297110

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slit2

Ensembl Gene

ENSMUSG00000031558

Gene Name

slit guidance ligand 2

Synonyms

Drad-1, Slil3, E130320P19Rik, E030015M03Rik

Accession Numbers

Ncbi RefSeq: NM_178804.3; MGI: 1315205

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02526

Quality Score

Status

Chromosome

Chromosomal Location

47983138-48307733 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 48304223 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 1537 (C1537*)

Ref Sequence

ENSEMBL: ENSMUSP00000134263 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033967] [ENSMUST00000170109] [ENSMUST00000173107] [ENSMUST00000173686] [ENSMUST00000174313] [ENSMUST00000174421]

Predicted Effect

probably benign
Transcript: ENSMUST00000033967

SMART Domains

Protein: ENSMUSP00000033967
Gene: ENSMUSG00000031558

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
LRRNT	27	59	6.53e-9	SMART
LRR	53	77	1.41e2	SMART
LRR_TYP	78	101	1.79e-2	SMART
LRR	102	125	2.45e0	SMART
LRR	126	149	9.96e-1	SMART
LRR	154	173	1.29e2	SMART
LRR_TYP	174	197	2.05e-2	SMART
LRRCT	209	258	3.42e-9	SMART
LRRNT	272	304	4.55e-8	SMART
LRR	298	322	3e1	SMART
LRR_TYP	323	346	1.95e-3	SMART
LRR_TYP	347	370	2.24e-3	SMART
LRR	371	394	1.31e0	SMART
LRR	395	418	2.49e-1	SMART
LRRCT	430	479	1.88e-6	SMART
LRRNT	497	529	1.45e-6	SMART
LRR_TYP	549	572	1.38e-3	SMART
LRR	597	620	9.96e-1	SMART
LRR_TYP	621	644	2.71e-2	SMART
LRRCT	656	705	3.56e-7	SMART
LRRNT	718	750	3.69e-8	SMART
LRR	768	791	7.36e0	SMART
LRR_TYP	792	815	5.59e-4	SMART
LRR_TYP	816	839	7.9e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000170109
AA Change: C1528*

SMART Domains

Protein: ENSMUSP00000127615
Gene: ENSMUSG00000031558
AA Change: C1528*

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
LRRNT	27	59	6.53e-9	SMART
LRR	53	77	1.41e2	SMART
LRR_TYP	78	101	1.79e-2	SMART
LRR	102	125	2.45e0	SMART
LRR	126	149	9.96e-1	SMART
LRR	154	173	1.29e2	SMART
LRR_TYP	174	197	2.05e-2	SMART
LRRCT	209	258	3.42e-9	SMART
LRRNT	272	304	4.55e-8	SMART
LRR	298	322	3e1	SMART
LRR_TYP	323	346	1.95e-3	SMART
LRR_TYP	347	370	2.24e-3	SMART
LRR	371	394	1.31e0	SMART
LRR	395	418	2.49e-1	SMART
LRRCT	430	479	1.88e-6	SMART
LRRNT	497	529	1.45e-6	SMART
LRR_TYP	549	572	1.38e-3	SMART
LRR	597	620	9.96e-1	SMART
LRR_TYP	621	644	2.71e-2	SMART
LRRCT	656	705	3.56e-7	SMART
LRRNT	718	750	3.69e-8	SMART
LRR	768	791	7.36e0	SMART
LRR_TYP	792	815	5.59e-4	SMART
LRR_TYP	816	839	7.9e-4	SMART
LRRCT	851	900	3.9e-13	SMART
EGF	913	947	3.73e-5	SMART
EGF	952	988	4.35e-6	SMART
EGF_CA	990	1026	2.21e-7	SMART
FOLN	993	1015	5.84e1	SMART
EGF	1031	1066	1.07e-5	SMART
EGF_CA	1068	1104	3.97e-9	SMART
FOLN	1116	1138	2.22e0	SMART
EGF	1116	1149	1.62e-5	SMART
LamG	1172	1308	4.82e-39	SMART
EGF	1327	1360	3.68e-4	SMART
EGF	1366	1399	3.88e-3	SMART
FOLN	1407	1429	3.34e0	SMART
EGF	1407	1440	4.46e-3	SMART
CT	1451	1520	4.23e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000173107
AA Change: C1516*

SMART Domains

Protein: ENSMUSP00000133840
Gene: ENSMUSG00000031558
AA Change: C1516*

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
LRRNT	27	59	6.53e-9	SMART
LRR	53	77	1.41e2	SMART
LRR_TYP	78	101	1.79e-2	SMART
LRR	102	125	2.45e0	SMART
LRR	126	149	9.96e-1	SMART
LRR	154	173	1.29e2	SMART
LRR_TYP	174	197	2.05e-2	SMART
LRRCT	209	258	3.42e-9	SMART
LRRNT	272	304	4.55e-8	SMART
LRR	298	322	3e1	SMART
LRR_TYP	323	346	1.95e-3	SMART
LRR_TYP	347	370	2.24e-3	SMART
LRR	371	394	1.31e0	SMART
LRR	395	418	2.49e-1	SMART
LRRCT	430	479	1.88e-6	SMART
LRRNT	505	537	1.45e-6	SMART
LRR_TYP	557	580	1.38e-3	SMART
LRR	605	628	9.96e-1	SMART
LRR_TYP	629	652	2.71e-2	SMART
LRRCT	664	713	3.56e-7	SMART
LRRNT	726	758	3.69e-8	SMART
LRR	776	799	7.36e0	SMART
LRR_TYP	800	823	5.59e-4	SMART
LRR_TYP	824	847	7.9e-4	SMART
LRRCT	859	908	3.9e-13	SMART
EGF	921	955	3.73e-5	SMART
EGF	960	996	4.35e-6	SMART
EGF_CA	998	1034	2.21e-7	SMART
FOLN	1001	1023	5.84e1	SMART
EGF	1039	1074	1.07e-5	SMART
EGF_CA	1076	1112	3.97e-9	SMART
FOLN	1124	1146	2.22e0	SMART
EGF	1124	1157	1.62e-5	SMART
LamG	1180	1316	4.82e-39	SMART
EGF	1335	1368	3.68e-4	SMART
EGF	1374	1407	3.88e-3	SMART
FOLN	1415	1437	3.34e0	SMART
EGF	1415	1448	4.46e-3	SMART
CT	1459	1528	4.23e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173686

SMART Domains

Protein: ENSMUSP00000133382
Gene: ENSMUSG00000031558

Domain	Start	End	E-Value	Type
EGF	1	31	2.05e-2	SMART
EGF	43	76	1.62e-5	SMART
Pfam:Laminin_G_2	107	149	1.4e-6	PFAM
Pfam:Laminin_G_1	107	150	5e-8	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000174313
AA Change: C1520*

SMART Domains

Protein: ENSMUSP00000133912
Gene: ENSMUSG00000031558
AA Change: C1520*

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
LRRNT	27	59	6.53e-9	SMART
LRR	53	77	1.41e2	SMART
LRR_TYP	78	101	1.79e-2	SMART
LRR	102	125	2.45e0	SMART
LRR	126	149	9.96e-1	SMART
LRR	154	173	1.29e2	SMART
LRR_TYP	174	197	2.05e-2	SMART
LRRCT	209	258	3.42e-9	SMART
LRRNT	276	308	4.55e-8	SMART
LRR	302	326	3e1	SMART
LRR_TYP	327	350	1.95e-3	SMART
LRR_TYP	351	374	2.24e-3	SMART
LRR	375	398	1.31e0	SMART
LRR	399	422	2.49e-1	SMART
LRRCT	434	483	1.88e-6	SMART
LRRNT	501	533	1.45e-6	SMART
LRR_TYP	553	576	1.38e-3	SMART
LRR	601	624	9.96e-1	SMART
LRR_TYP	625	648	2.71e-2	SMART
LRRCT	660	709	3.56e-7	SMART
LRRNT	722	754	3.69e-8	SMART
LRR	772	795	7.36e0	SMART
LRR_TYP	796	819	5.59e-4	SMART
LRR_TYP	820	843	7.9e-4	SMART
LRRCT	855	904	3.9e-13	SMART
EGF	917	951	3.73e-5	SMART
EGF	956	992	4.35e-6	SMART
EGF_CA	994	1030	2.21e-7	SMART
FOLN	997	1019	5.84e1	SMART
EGF	1035	1070	1.07e-5	SMART
EGF_CA	1072	1108	3.97e-9	SMART
FOLN	1120	1142	2.22e0	SMART
EGF	1120	1153	1.62e-5	SMART
LamG	1176	1312	4.82e-39	SMART
EGF	1331	1364	3.68e-4	SMART
EGF	1370	1403	3.88e-3	SMART
FOLN	1411	1433	3.34e0	SMART
EGF	1411	1444	4.46e-3	SMART
CT	1455	1524	4.23e-4	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000174421
AA Change: C1537*

SMART Domains

Protein: ENSMUSP00000134263
Gene: ENSMUSG00000031558
AA Change: C1537*

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
LRRNT	27	59	6.53e-9	SMART
LRR	53	77	1.41e2	SMART
LRR_TYP	78	101	1.79e-2	SMART
LRR	102	125	2.45e0	SMART
LRR	126	149	9.96e-1	SMART
LRR	154	173	1.29e2	SMART
LRR_TYP	174	197	2.05e-2	SMART
LRRCT	209	258	3.42e-9	SMART
LRRNT	276	308	4.55e-8	SMART
LRR	302	326	3e1	SMART
LRR_TYP	327	350	1.95e-3	SMART
LRR_TYP	351	374	2.24e-3	SMART
LRR	375	398	1.31e0	SMART
LRR	399	422	2.49e-1	SMART
LRRCT	434	483	1.88e-6	SMART
LRRNT	509	541	1.45e-6	SMART
LRR_TYP	561	584	1.38e-3	SMART
LRR	609	632	9.96e-1	SMART
LRR_TYP	633	656	2.71e-2	SMART
LRRCT	668	717	3.56e-7	SMART
LRRNT	730	762	3.69e-8	SMART
LRR	780	803	7.36e0	SMART
LRR_TYP	804	827	5.59e-4	SMART
LRR_TYP	828	851	7.9e-4	SMART
LRRCT	863	912	3.9e-13	SMART
EGF	925	959	3.73e-5	SMART
EGF	964	1000	4.35e-6	SMART
EGF_CA	1002	1047	4.74e-7	SMART
FOLN	1005	1027	5.84e1	SMART
EGF	1052	1087	1.07e-5	SMART
EGF_CA	1089	1125	3.97e-9	SMART
FOLN	1137	1159	2.22e0	SMART
EGF	1137	1170	1.62e-5	SMART
LamG	1193	1329	4.82e-39	SMART
EGF	1348	1381	3.68e-4	SMART
EGF	1387	1420	3.88e-3	SMART
FOLN	1428	1450	3.34e0	SMART
EGF	1428	1461	4.46e-3	SMART
CT	1472	1541	4.23e-4	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

Strain: 2179460
FUNCTION: The protein encoded by this gene is a member of the Slit family of secreted glycoproteins, which function as ligands for the Robo family of immunoglobulin receptors. Slit proteins play highly conserved roles in axon guidance and neuronal migration and may also have functions during other cell migration processes including leukocyte migration. In mammals, members of the slit family are characterized by an N-terminal signal peptide, four leucine-rich repeats, nine epidermal growth factor repeats, and a C-terminal cysteine knot. Mice deficient for this gene exhibit abnormal axonal projections in the embryonic forebrain and develop supernumerary uretic buds that maintain improper connections to the nephric duct. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mutants display perinatal lethality, abnormal ureteric bud development, multiple fused kidneys, multiple ureters, and hydroureter. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	A	G	5: 121,646,860	V231A	probably damaging	Het
Aff4	T	C	11: 53,406,682		probably benign	Het
Ano2	G	A	6: 125,872,751		probably null	Het
Aspm	A	G	1: 139,489,719	E2818G	probably benign	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Caprin1	T	C	2: 103,775,603		probably benign	Het
Clca2	T	C	3: 145,088,018	H292R	probably benign	Het
Dnah11	G	A	12: 118,179,618	T430M	possibly damaging	Het
Fgd6	A	G	10: 94,100,511	N902S	probably benign	Het
Grm3	A	G	5: 9,589,847	I66T	probably damaging	Het
H13	T	A	2: 152,688,682	F158L	probably damaging	Het
Kcnb2	A	G	1: 15,710,755	E617G	probably damaging	Het
Kcnh7	T	C	2: 62,850,437	S269G	possibly damaging	Het
Krit1	T	A	5: 3,822,103	I376N	probably damaging	Het
Lonrf2	T	A	1: 38,800,710	M435L	probably benign	Het
Map2	A	T	1: 66,380,717	D69V	possibly damaging	Het
Mon1b	G	T	8: 113,638,823	R261L	possibly damaging	Het
Myh3	C	T	11: 67,087,545	P453S	probably benign	Het
Olfr557	T	A	7: 102,699,084	V282D	possibly damaging	Het
Pi4k2b	T	C	5: 52,767,739	F442L	probably damaging	Het
Pla2g12b	T	A	10: 59,416,453	C49S	probably damaging	Het
Polr2a	C	T	11: 69,739,467	R1258Q	probably benign	Het
Prmt8	A	C	6: 127,711,823	S195A	probably damaging	Het
Pwp1	T	A	10: 85,882,103		probably null	Het
Rxfp1	C	A	3: 79,670,846		probably null	Het
Skor1	A	T	9: 63,145,877	M270K	probably damaging	Het
Slc12a4	T	C	8: 105,949,806	N495D	possibly damaging	Het
Slc26a3	T	C	12: 31,457,096	V350A	probably damaging	Het
Slc44a4	T	A	17: 34,928,487	V430D	probably damaging	Het
Tas2r135	A	T	6: 42,406,280	H251L	probably damaging	Het
Tbr1	T	C	2: 61,811,698	F436L	probably benign	Het
Them6	A	T	15: 74,721,655	T121S	possibly damaging	Het
Tmem145	G	A	7: 25,308,232	M221I	probably benign	Het
Trrap	T	C	5: 144,824,550	V2300A	probably benign	Het
Usf3	C	A	16: 44,220,311	A1718D	possibly damaging	Het
Usp10	C	A	8: 119,948,775	S511Y	probably damaging	Het
Wdr38	A	T	2: 38,998,412	N7I	probably damaging	Het
Wnt9a	T	C	11: 59,328,505	F119S	probably damaging	Het
Zc3h7b	G	A	15: 81,793,137	G880S	probably benign	Het

Other mutations in Slit2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00791:Slit2	APN	5	48304032	missense	possibly damaging	0.86
IGL00809:Slit2	APN	5	47989151	missense	possibly damaging	0.88
IGL00811:Slit2	APN	5	47989151	missense	possibly damaging	0.88
IGL00813:Slit2	APN	5	47989151	missense	possibly damaging	0.88
IGL00815:Slit2	APN	5	47989151	missense	possibly damaging	0.88
IGL00816:Slit2	APN	5	47989151	missense	possibly damaging	0.88
IGL00817:Slit2	APN	5	47989151	missense	possibly damaging	0.88
IGL00819:Slit2	APN	5	47989151	missense	possibly damaging	0.88
IGL00820:Slit2	APN	5	47989151	missense	possibly damaging	0.88
IGL00822:Slit2	APN	5	47989151	missense	possibly damaging	0.88
IGL01077:Slit2	APN	5	48217443	splice site	probably null
IGL01375:Slit2	APN	5	48281714	splice site	probably benign
IGL01481:Slit2	APN	5	48302931	missense	probably benign	0.05
IGL01934:Slit2	APN	5	48238405	missense	possibly damaging	0.93
IGL01992:Slit2	APN	5	48238417	missense	probably benign	0.01
IGL02315:Slit2	APN	5	47987871	missense	probably damaging	0.98
IGL02328:Slit2	APN	5	48230304	missense	probably damaging	1.00
IGL02366:Slit2	APN	5	48304068	missense	possibly damaging	0.53
IGL02852:Slit2	APN	5	48244672	missense	probably damaging	1.00
IGL02887:Slit2	APN	5	48217474	missense	probably benign	0.44
IGL03123:Slit2	APN	5	48211339	missense	probably damaging	1.00
IGL03182:Slit2	APN	5	48220053	missense	possibly damaging	0.77
P0025:Slit2	UTSW	5	48304035	missense	probably damaging	0.96
R0032:Slit2	UTSW	5	48256856	missense	probably damaging	0.99
R0032:Slit2	UTSW	5	48256856	missense	probably damaging	0.99
R0055:Slit2	UTSW	5	48281726	nonsense	probably null
R0055:Slit2	UTSW	5	48281726	nonsense	probably null
R0267:Slit2	UTSW	5	48182331	splice site	probably benign
R0552:Slit2	UTSW	5	48238379	missense	probably damaging	1.00
R0610:Slit2	UTSW	5	48275674	missense	possibly damaging	0.77
R0883:Slit2	UTSW	5	48245573	splice site	probably benign
R1390:Slit2	UTSW	5	48217490	missense	probably benign	0.06
R1442:Slit2	UTSW	5	48238383	missense	probably damaging	0.96
R1453:Slit2	UTSW	5	48257051	missense	possibly damaging	0.88
R1508:Slit2	UTSW	5	48192249	missense	probably damaging	0.98
R1639:Slit2	UTSW	5	48259654	missense	probably damaging	1.00
R1705:Slit2	UTSW	5	48189472	missense	probably damaging	0.99
R1828:Slit2	UTSW	5	48304030	missense	probably damaging	1.00
R1897:Slit2	UTSW	5	48238423	missense	probably damaging	1.00
R1908:Slit2	UTSW	5	48281988	missense	probably damaging	1.00
R1919:Slit2	UTSW	5	48191016	unclassified	probably benign
R1982:Slit2	UTSW	5	48249836	missense	probably damaging	1.00
R2013:Slit2	UTSW	5	48302490	missense	probably damaging	1.00
R2136:Slit2	UTSW	5	48304225	missense	probably benign	0.03
R2655:Slit2	UTSW	5	48189575	missense	possibly damaging	0.88
R3402:Slit2	UTSW	5	48283421	missense	probably damaging	0.98
R3724:Slit2	UTSW	5	48256883	critical splice donor site	probably null
R4176:Slit2	UTSW	5	48237244	splice site	probably null
R4306:Slit2	UTSW	5	48302783	missense	possibly damaging	0.83
R4397:Slit2	UTSW	5	48220081	critical splice donor site	probably null
R4525:Slit2	UTSW	5	48249873	missense	probably damaging	1.00
R4688:Slit2	UTSW	5	48257003	splice site	probably null
R5026:Slit2	UTSW	5	48256805	missense	probably damaging	0.99
R5138:Slit2	UTSW	5	48281967	missense	probably damaging	1.00
R5465:Slit2	UTSW	5	48249912	missense	probably damaging	1.00
R5471:Slit2	UTSW	5	48189555	missense	probably damaging	1.00
R5699:Slit2	UTSW	5	48220991	critical splice donor site	probably null
R5735:Slit2	UTSW	5	48259616	missense	probably damaging	1.00
R5834:Slit2	UTSW	5	48259647	missense	probably damaging	1.00
R5967:Slit2	UTSW	5	47985164	missense	probably damaging	0.99
R6150:Slit2	UTSW	5	48304174	missense	probably damaging	1.00
R6219:Slit2	UTSW	5	48302428	missense	possibly damaging	0.53
R6344:Slit2	UTSW	5	48219681	missense	probably benign	0.07
R6408:Slit2	UTSW	5	47984986	unclassified	probably benign
R6479:Slit2	UTSW	5	48231989	missense	probably damaging	1.00
R6526:Slit2	UTSW	5	48304167	missense	probably damaging	0.99
R6959:Slit2	UTSW	5	48238385	missense	possibly damaging	0.83
R7139:Slit2	UTSW	5	48244683	missense	probably benign	0.19
R7201:Slit2	UTSW	5	48237285	missense	probably null	0.85
R7472:Slit2	UTSW	5	48256838	missense	probably damaging	0.97
R7491:Slit2	UTSW	5	48219994	missense	probably benign	0.18
R7566:Slit2	UTSW	5	48249897	missense	probably damaging	0.99
R7622:Slit2	UTSW	5	47985205	missense	probably damaging	0.98
R7831:Slit2	UTSW	5	48244683	missense	probably benign	0.19
R7870:Slit2	UTSW	5	48302307	missense	probably damaging	0.99
R7899:Slit2	UTSW	5	48247185	missense	possibly damaging	0.89
R7969:Slit2	UTSW	5	48304036	missense	possibly damaging	0.47
R7984:Slit2	UTSW	5	48176123	intron	probably benign
R8021:Slit2	UTSW	5	48302492	nonsense	probably null
R8253:Slit2	UTSW	5	48275671	missense	probably benign	0.00
R8321:Slit2	UTSW	5	48230267	missense	probably damaging	1.00
R8426:Slit2	UTSW	5	48224763	missense	probably benign	0.00
R8513:Slit2	UTSW	5	48224708	nonsense	probably null
R8756:Slit2	UTSW	5	48302487	nonsense	probably null
R8796:Slit2	UTSW	5	48302848	missense	probably benign	0.01
R8799:Slit2	UTSW	5	48304182	missense	possibly damaging	0.73
R8947:Slit2	UTSW	5	48249798	missense	probably damaging	1.00
Z1088:Slit2	UTSW	5	48302353	missense	probably damaging	1.00

Posted On

2015-04-16