Mutagenetix > Incidental Mutations

Incidental Mutation 'R7614:Slit1'

588798

Institutional Source

Beutler Lab

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 #

R7614 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41600257-41743665 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41634200 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 707 (I707F)

Ref Sequence

ENSEMBL: ENSMUSP00000025993 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000025993
AA Change: I707F

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

SMART Domains

Protein: ENSMUSP00000025993
Gene: ENSMUSG00000025020
AA Change: I707F

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: I707F

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

SMART Domains

Protein: ENSMUSP00000128381
Gene: ENSMUSG00000025020
AA Change: I707F

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: I707F

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

SMART Domains

Protein: ENSMUSP00000129034
Gene: ENSMUSG00000025020
AA Change: I707F

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013F07Rik	T	A	3: 108,542,532	D42E	probably benign	Het
Abl2	A	G	1: 156,636,859	T535A	possibly damaging	Het
Adcy9	A	T	16: 4,418,224	L441Q	probably damaging	Het
Adgrv1	A	T	13: 81,520,661	V2592E	probably damaging	Het
Ahdc1	A	G	4: 133,063,514	S689G	probably benign	Het
Ankrd24	G	A	10: 81,638,689	G229E	unknown	Het
Ankrd34c	T	A	9: 89,728,861	I476F	probably damaging	Het
Arhgap8	A	G	15: 84,757,075	T181A	probably benign	Het
Arhgef19	A	G	4: 141,256,779	H770R	possibly damaging	Het
Arhgef4	T	G	1: 34,732,235	S1208A	possibly damaging	Het
Arid1a	A	T	4: 133,691,155	M654K	unknown	Het
Cadps	A	G	14: 12,454,260	I1086T	probably damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Cntn3	T	C	6: 102,165,376	H1010R	probably benign	Het
Cyp2c66	T	A	19: 39,171,028	Y308N	probably damaging	Het
Dok6	T	A	18: 89,473,943	H170L	probably damaging	Het
Eefsec	C	T	6: 88,281,594	D506N	possibly damaging	Het
Fam181a	C	T	12: 103,316,546	P237S	probably damaging	Het
Fam186b	T	C	15: 99,286,986	I19V	probably damaging	Het
Gm3285	A	T	10: 77,862,031	T5S	unknown	Het
Heg1	A	G	16: 33,727,363	E864G	probably benign	Het
Herc2	T	A	7: 56,153,275	L2124*	probably null	Het
Hexa	T	C	9: 59,561,947	S331P	probably damaging	Het
Hspb1	A	T	5: 135,888,369	D104V	probably damaging	Het
Ikzf1	A	T	11: 11,769,019	Q329L	probably damaging	Het
Kcnf1	C	A	12: 17,174,786	R478L	probably benign	Het
Kdm3a	T	C	6: 71,591,953	T1161A	possibly damaging	Het
Krtap31-2	T	C	11: 99,936,603	I87T	possibly damaging	Het
Lars2	T	C	9: 123,395,111	S116P		Het
Lrrk2	A	G	15: 91,772,858	D1785G	probably damaging	Het
Myo10	A	G	15: 25,701,623	H61R	probably benign	Het
Olfr12	A	G	1: 92,620,461	Y185C	probably damaging	Het
Olfr248	T	G	1: 174,391,654	F195C	probably damaging	Het
Pcdhb4	C	A	18: 37,309,549	H637Q	probably benign	Het
Pcsk9	T	A	4: 106,447,566	D435V	probably benign	Het
Prickle2	T	A	6: 92,425,650	Y119F	possibly damaging	Het
Psd	T	A	19: 46,313,438	Q903L	probably damaging	Het
Ptpn13	T	A	5: 103,501,465	S245T	probably benign	Het
Resp18	T	C	1: 75,278,238	S24G	probably damaging	Het
Slc17a4	T	C	13: 23,906,597	T89A	probably benign	Het
Slc9a9	A	G	9: 94,855,739	Y233C	probably damaging	Het
Sp4	T	C	12: 118,254,439	E691G	possibly damaging	Het
Syne3	T	C	12: 104,946,642	T723A	not run	Het
Tcp1	T	A	17: 12,922,653	F340I	possibly damaging	Het
Tmem39b	A	T	4: 129,693,901	V39D	probably damaging	Het
Tmtc3	A	T	10: 100,450,352	Y536*	probably null	Het
Tnfrsf11a	A	T	1: 105,827,369	T389S	probably damaging	Het
Ttn	T	C	2: 76,768,529	T19347A	possibly damaging	Het
Vmn1r68	A	G	7: 10,527,626	S182P	probably benign	Het
Vmn2r95	A	G	17: 18,440,090	T255A	probably benign	Het
Wdr59	T	C	8: 111,492,762	Y221C		Het

Other mutations in Slit1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Slit1	APN	19	41650835	missense	probably damaging	1.00
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
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
X0023:Slit1	UTSW	19	41601640	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTGACCCTTACAAGAACCGAAG -3'
(R):5'- CTCACTGAGAATGGAAAGTGCC -3'

Sequencing Primer
(F):5'- GCTACAGCCTGCTAGAAGG -3'
(R):5'- TGGAAAGTGCCTTCATGACC -3'

Posted On

2019-10-24