Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00162:Slit1'

701

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slit1

Ensembl Gene

ENSMUSG00000025020

Gene Name

slit guidance ligand 1

Synonyms

Slil1

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00162

Quality Score

Status

Chromosome

Chromosomal Location

41600257-41743665 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41650835 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 212 (L212P)

Ref Sequence

ENSEMBL: ENSMUSP00000129034 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025993] [ENSMUST00000166496] [ENSMUST00000169141] [ENSMUST00000171586]

Predicted Effect

probably damaging
Transcript: ENSMUST00000025993
AA Change: L212P

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

SMART Domains

Protein: ENSMUSP00000025993
Gene: ENSMUSG00000025020
AA Change: L212P

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
LRRNT	33	65	5.68e-9	SMART
LRR	59	83	4.58e1	SMART
LRR	84	107	4.7e0	SMART
LRR_TYP	108	131	1.95e-3	SMART
LRR	133	155	6.05e0	SMART
LRR	157	179	3.98e1	SMART
LRR_TYP	180	203	3.44e-4	SMART
LRRCT	215	264	3.51e-6	SMART
LRRNT	281	313	3e-8	SMART
LRR	307	331	6.41e1	SMART
LRR_TYP	332	355	8.22e-2	SMART
LRR_TYP	356	379	9.08e-4	SMART
LRR	380	403	2.82e0	SMART
LRR_TYP	404	427	5.42e-2	SMART
LRRCT	439	488	5.78e-7	SMART
LRRNT	512	544	1.04e-7	SMART
LRR_TYP	564	587	3.39e-3	SMART
LRR	589	611	2.08e1	SMART
LRR_TYP	612	635	1.56e-2	SMART
LRR_TYP	636	659	4.11e-2	SMART
LRRCT	671	720	2.89e-7	SMART
LRRNT	733	765	4.87e-8	SMART
LRR	783	806	1.22e1	SMART
LRR_TYP	807	830	9.73e-4	SMART
LRR_TYP	831	854	9.58e-3	SMART
LRRCT	866	915	5.6e-14	SMART
EGF	928	962	5.08e-7	SMART
EGF	967	1003	1.74e-5	SMART
EGF_CA	1005	1041	1.05e-8	SMART
EGF	1046	1081	1.21e-4	SMART
EGF_CA	1083	1119	3.64e-8	SMART
FOLN	1086	1108	8.44e0	SMART
FOLN	1127	1149	1.4e0	SMART
EGF	1127	1160	1.78e-2	SMART
LamG	1183	1319	4.43e-38	SMART
EGF	1338	1371	6.76e-3	SMART
EGF	1377	1410	3.38e-3	SMART
FOLN	1418	1440	2.25e1	SMART
EGF	1418	1451	1.28e-3	SMART
CT	1462	1531	3.15e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000166496
AA Change: L212P

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

SMART Domains

Protein: ENSMUSP00000128381
Gene: ENSMUSG00000025020
AA Change: L212P

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
LRRNT	33	65	5.68e-9	SMART
LRR	59	83	4.58e1	SMART
LRR	84	107	4.7e0	SMART
LRR_TYP	108	131	1.95e-3	SMART
LRR	133	155	6.05e0	SMART
LRR	157	179	3.98e1	SMART
LRR_TYP	180	203	3.44e-4	SMART
LRRCT	215	264	3.51e-6	SMART
LRRNT	281	313	3e-8	SMART
LRR	307	331	6.41e1	SMART
LRR_TYP	332	355	8.22e-2	SMART
LRR_TYP	356	379	9.08e-4	SMART
LRR	380	403	2.82e0	SMART
LRR_TYP	404	427	5.42e-2	SMART
LRRCT	439	488	5.78e-7	SMART
LRRNT	512	544	1.04e-7	SMART
LRR_TYP	564	587	3.39e-3	SMART
LRR	589	611	2.08e1	SMART
LRR_TYP	612	635	1.56e-2	SMART
LRR_TYP	636	659	4.11e-2	SMART
LRRCT	671	720	2.89e-7	SMART
LRRNT	733	765	4.87e-8	SMART
LRR	783	806	1.22e1	SMART
LRR_TYP	807	830	9.73e-4	SMART
LRR_TYP	831	854	9.58e-3	SMART
LRRCT	866	915	5.6e-14	SMART
EGF	928	962	5.08e-7	SMART
EGF	967	1003	1.74e-5	SMART
EGF_CA	1005	1041	1.05e-8	SMART
EGF	1046	1081	1.21e-4	SMART
EGF_CA	1083	1119	3.64e-8	SMART
FOLN	1086	1108	8.44e0	SMART
FOLN	1127	1149	1.4e0	SMART
EGF	1127	1160	1.78e-2	SMART
LamG	1183	1319	4.43e-38	SMART
EGF	1338	1371	6.76e-3	SMART
EGF	1377	1410	3.38e-3	SMART
low complexity region	1437	1458	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000169141
AA Change: L212P

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

SMART Domains

Protein: ENSMUSP00000129034
Gene: ENSMUSG00000025020
AA Change: L212P

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
LRRNT	33	65	5.68e-9	SMART
LRR	59	83	4.58e1	SMART
LRR	84	107	4.7e0	SMART
LRR_TYP	108	131	1.95e-3	SMART
LRR	133	155	6.05e0	SMART
LRR	157	179	3.98e1	SMART
LRR_TYP	180	203	3.44e-4	SMART
LRRCT	215	264	3.51e-6	SMART
LRRNT	281	313	3e-8	SMART
LRR	307	331	6.41e1	SMART
LRR_TYP	332	355	8.22e-2	SMART
LRR_TYP	356	379	9.08e-4	SMART
LRR	380	403	2.82e0	SMART
LRR_TYP	404	427	5.42e-2	SMART
LRRCT	439	488	5.78e-7	SMART
LRRNT	512	544	1.04e-7	SMART
LRR_TYP	564	587	3.39e-3	SMART
LRR	589	611	2.08e1	SMART
LRR_TYP	612	635	1.56e-2	SMART
LRR_TYP	636	659	4.11e-2	SMART
LRRCT	671	720	2.89e-7	SMART
LRRNT	733	765	4.87e-8	SMART
LRR	783	806	1.22e1	SMART
LRR_TYP	807	830	9.73e-4	SMART
LRR_TYP	831	854	9.58e-3	SMART
LRRCT	866	915	5.6e-14	SMART
EGF	928	962	5.08e-7	SMART
EGF	967	1003	1.74e-5	SMART
EGF_CA	1005	1041	1.05e-8	SMART
EGF	1046	1081	1.21e-4	SMART
EGF_CA	1083	1119	3.64e-8	SMART
FOLN	1086	1108	8.44e0	SMART
FOLN	1127	1149	1.4e0	SMART
EGF	1127	1160	1.78e-2	SMART
LamG	1183	1319	4.43e-38	SMART
EGF	1338	1371	6.76e-3	SMART
EGF	1377	1410	3.38e-3	SMART
FOLN	1418	1440	2.25e1	SMART
EGF	1418	1451	1.28e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000171586
AA Change: L188P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126139
Gene: ENSMUSG00000025020
AA Change: L188P

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
LRRNT	33	65	5.68e-9	SMART
LRR	59	83	4.58e1	SMART
LRR	84	107	4.7e0	SMART
LRR_TYP	108	131	2.24e-3	SMART
LRR	133	155	3.98e1	SMART
LRR_TYP	156	179	3.44e-4	SMART
LRRCT	191	240	3.51e-6	SMART
LRRNT	257	289	3e-8	SMART
LRR	283	307	6.41e1	SMART
LRR_TYP	308	331	8.22e-2	SMART
LRR_TYP	332	355	9.08e-4	SMART
LRR	356	379	2.82e0	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a reporter allele exhibit normal interneuron numbers and morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
C330021F23Rik	A	G	8: 3,583,904	T2A	probably benign	Het
Cc2d1b	T	G	4: 108,627,378	L470R	probably damaging	Het
Cd96	A	T	16: 46,071,799	N275K	possibly damaging	Het
Col22a1	A	G	15: 71,860,958		probably null	Het
Cyb561	T	C	11: 105,935,836	H197R	probably damaging	Het
Dlgap1	T	C	17: 70,516,085	S22P	probably benign	Het
Dnajc6	A	G	4: 101,508,089		probably benign	Het
Fgf6	A	T	6: 127,024,085	K185N	possibly damaging	Het
Fshr	T	C	17: 88,986,191	N353S	probably damaging	Het
Gabbr1	T	A	17: 37,048,443	Y103*	probably null	Het
Gm7247	G	A	14: 51,523,505	C177Y	possibly damaging	Het
Hikeshi	A	G	7: 89,935,781	F72L	probably damaging	Het
Ikzf4	T	C	10: 128,634,547	E368G	probably benign	Het
Kdm3b	A	G	18: 34,809,409	E851G	probably benign	Het
Kif3b	A	G	2: 153,317,131	D284G	probably damaging	Het
Kyat3	G	A	3: 142,734,474	A320T	probably benign	Het
Mok	C	T	12: 110,808,197		probably benign	Het
Mrgpra3	A	G	7: 47,589,519	F220L	probably benign	Het
Nr4a1	T	C	15: 101,270,899	V272A	probably damaging	Het
Olfr1124	A	G	2: 87,435,063	H192R	probably benign	Het
Olfr703	A	G	7: 106,845,367	Y252C	possibly damaging	Het
Pikfyve	T	A	1: 65,260,121		probably null	Het
Plekhn1	T	G	4: 156,223,363	T369P	probably damaging	Het
Ptpn12	T	C	5: 21,029,850	E45G	probably damaging	Het
Ralgps1	A	T	2: 33,137,682	*516R	probably null	Het
Senp6	A	G	9: 80,116,610	D385G	probably damaging	Het
Siglech	T	C	7: 55,772,591		probably benign	Het
Smchd1	T	A	17: 71,465,673		probably benign	Het
Snapc4	A	T	2: 26,369,312	C609S	probably benign	Het
Strn3	T	C	12: 51,661,196	T139A	possibly damaging	Het
Tcaf3	T	C	6: 42,593,385	T478A	probably benign	Het
Tlr3	A	G	8: 45,400,690	S198P	probably damaging	Het
Ttn	C	T	2: 76,890,479		probably benign	Het
Vil1	G	A	1: 74,423,875	E406K	probably damaging	Het
Zfp462	A	G	4: 55,011,483		probably null	Het
Zfyve9	A	G	4: 108,642,107	V1338A	possibly damaging	Het

Other mutations in Slit1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Slit1	APN	19	41624501	missense	probably damaging	0.97
IGL00909:Slit1	APN	19	41602255	missense	possibly damaging	0.89
IGL00953:Slit1	APN	19	41602300	missense	probably damaging	1.00
IGL01116:Slit1	APN	19	41606385	missense	possibly damaging	0.93
IGL01457:Slit1	APN	19	41611044	missense	probably damaging	1.00
IGL01688:Slit1	APN	19	41729106	missense	probably damaging	1.00
IGL01720:Slit1	APN	19	41634214	missense	probably benign	0.01
IGL01925:Slit1	APN	19	41608378	missense	probably damaging	0.98
IGL02008:Slit1	APN	19	41646140	missense	probably damaging	0.99
IGL02312:Slit1	APN	19	41601680	missense	possibly damaging	0.66
IGL02398:Slit1	APN	19	41602237	missense	probably damaging	1.00
IGL02542:Slit1	APN	19	41627248	missense	probably damaging	1.00
IGL02559:Slit1	APN	19	41721085	missense	probably benign	0.01
IGL02609:Slit1	APN	19	41602304	missense	probably damaging	0.99
IGL02623:Slit1	APN	19	41651683	missense	probably damaging	0.98
IGL02729:Slit1	APN	19	41603334	missense	probably damaging	1.00
IGL03230:Slit1	APN	19	41729085	missense	probably damaging	1.00
IGL03387:Slit1	APN	19	41603442	missense	possibly damaging	0.57
PIT4576001:Slit1	UTSW	19	41624549	missense	possibly damaging	0.52
R0366:Slit1	UTSW	19	41611031	missense	probably damaging	1.00
R0432:Slit1	UTSW	19	41743293	missense	probably damaging	0.98
R0496:Slit1	UTSW	19	41608311	splice site	probably benign
R0722:Slit1	UTSW	19	41608435	missense	probably damaging	1.00
R1468:Slit1	UTSW	19	41608384	missense	probably damaging	1.00
R1468:Slit1	UTSW	19	41608384	missense	probably damaging	1.00
R1488:Slit1	UTSW	19	41608385	missense	probably damaging	1.00
R1615:Slit1	UTSW	19	41650671	splice site	probably benign
R1694:Slit1	UTSW	19	41637592	missense	possibly damaging	0.69
R1762:Slit1	UTSW	19	41603335	missense	probably damaging	1.00
R1842:Slit1	UTSW	19	41721038	critical splice donor site	probably null
R1844:Slit1	UTSW	19	41625573	missense	probably damaging	1.00
R1940:Slit1	UTSW	19	41630776	missense	probably damaging	1.00
R2087:Slit1	UTSW	19	41637483	missense	probably benign	0.00
R2094:Slit1	UTSW	19	41606380	missense	probably damaging	0.99
R2095:Slit1	UTSW	19	41606380	missense	probably damaging	0.99
R2104:Slit1	UTSW	19	41602247	missense	possibly damaging	0.69
R2305:Slit1	UTSW	19	41611016	missense	probably benign	0.03
R2972:Slit1	UTSW	19	41611016	missense	probably benign	0.03
R2973:Slit1	UTSW	19	41611016	missense	probably benign	0.03
R2974:Slit1	UTSW	19	41611016	missense	probably benign	0.03
R3159:Slit1	UTSW	19	41604373	missense	probably benign
R3752:Slit1	UTSW	19	41646967	critical splice donor site	probably null
R4095:Slit1	UTSW	19	41608486	intron	probably benign
R4282:Slit1	UTSW	19	41614417	missense	probably benign
R4417:Slit1	UTSW	19	41614469	missense	probably damaging	1.00
R4607:Slit1	UTSW	19	41616793	missense	probably benign	0.10
R4729:Slit1	UTSW	19	41647020	missense	probably damaging	1.00
R4756:Slit1	UTSW	19	41649013	missense	probably damaging	1.00
R4764:Slit1	UTSW	19	41721044	nonsense	probably null
R4849:Slit1	UTSW	19	41649544	missense	probably benign	0.17
R4874:Slit1	UTSW	19	41729054	critical splice donor site	probably null
R5581:Slit1	UTSW	19	41616663	critical splice donor site	probably null
R5699:Slit1	UTSW	19	41625520	critical splice donor site	probably null
R5888:Slit1	UTSW	19	41743296	missense	probably damaging	1.00
R5906:Slit1	UTSW	19	41606374	missense	probably damaging	1.00
R6176:Slit1	UTSW	19	41637595	missense	probably damaging	1.00
R6277:Slit1	UTSW	19	41600509	missense	possibly damaging	0.81
R6702:Slit1	UTSW	19	41614870	missense	possibly damaging	0.95
R6860:Slit1	UTSW	19	41616715	missense	probably benign	0.10
R7015:Slit1	UTSW	19	41629886	nonsense	probably null
R7172:Slit1	UTSW	19	41634666	missense	probably damaging	1.00
R7512:Slit1	UTSW	19	41600635	missense	probably damaging	1.00
R7568:Slit1	UTSW	19	41601635	missense	probably damaging	1.00
R7614:Slit1	UTSW	19	41634200	missense	probably damaging	1.00
R7650:Slit1	UTSW	19	41629924	missense	probably damaging	1.00
R7687:Slit1	UTSW	19	41650689	missense	probably benign	0.03
R7732:Slit1	UTSW	19	41604408	missense	probably benign	0.01
R7947:Slit1	UTSW	19	41610808	missense	probably damaging	1.00
R7947:Slit1	UTSW	19	41610809	missense	probably benign
R8171:Slit1	UTSW	19	41727073	missense	probably damaging	0.97
R8217:Slit1	UTSW	19	41624520	missense	possibly damaging	0.60
R8355:Slit1	UTSW	19	41646034	missense	probably damaging	1.00
X0023:Slit1	UTSW	19	41601640	missense	probably benign

Posted On

2011-07-12