Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02008:Slit1'

183284

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slit1

Ensembl Gene

ENSMUSG00000025020

Gene Name

slit guidance ligand 1

Synonyms

Slil1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02008

Quality Score

Status

Chromosome

Chromosomal Location

41588696-41732104 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41634579 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 393 (I393V)

Ref Sequence

ENSEMBL: ENSMUSP00000025993 (fasta)

Gene Model

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

AlphaFold

Q80TR4

Predicted Effect

probably damaging
Transcript: ENSMUST00000025993
AA Change: I393V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025993
Gene: ENSMUSG00000025020
AA Change: I393V

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: I393V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128381
Gene: ENSMUSG00000025020
AA Change: I393V

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: I393V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129034
Gene: ENSMUSG00000025020
AA Change: I393V

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: I369V

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126139
Gene: ENSMUSG00000025020
AA Change: I369V

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,969,750 (GRCm39)	T2252A	probably benign	Het
Abcc2	C	T	19: 43,810,189 (GRCm39)		probably benign	Het
Abcf1	T	C	17: 36,272,954 (GRCm39)	E231G	probably benign	Het
Astn2	T	C	4: 65,977,390 (GRCm39)	Y379C	probably damaging	Het
Atp8b1	G	T	18: 64,671,766 (GRCm39)		probably benign	Het
Atr	T	A	9: 95,763,473 (GRCm39)		probably benign	Het
Bdp1	A	G	13: 100,160,335 (GRCm39)	S2349P	possibly damaging	Het
Bmp2	T	C	2: 133,402,886 (GRCm39)	S146P	probably damaging	Het
Cacna1c	T	C	6: 118,692,885 (GRCm39)	S218G	probably null	Het
Cand2	T	C	6: 115,780,599 (GRCm39)	V1161A	probably damaging	Het
Clec16a	T	C	16: 10,398,824 (GRCm39)	V330A	probably damaging	Het
Cpsf1	A	T	15: 76,487,291 (GRCm39)	V161D	probably damaging	Het
Ctsh	A	G	9: 89,943,600 (GRCm39)	Y75C	probably damaging	Het
Cyp26c1	C	A	19: 37,677,371 (GRCm39)	L267M	probably damaging	Het
Cyp26c1	T	A	19: 37,677,372 (GRCm39)	L267Q	probably damaging	Het
Cyp2c50	G	A	19: 40,079,543 (GRCm39)	W212*	probably null	Het
Dnah5	T	A	15: 28,343,698 (GRCm39)	M2366K	probably damaging	Het
Ermp1	A	G	19: 29,590,320 (GRCm39)	M794T	probably damaging	Het
F11	G	T	8: 45,703,132 (GRCm39)	S186Y	probably damaging	Het
Fam184b	A	T	5: 45,690,165 (GRCm39)	F815I	possibly damaging	Het
Fezf2	T	C	14: 12,343,705 (GRCm38)	I347V	probably benign	Het
Fip1l1	C	T	5: 74,706,084 (GRCm39)	T114I	possibly damaging	Het
Gbp7	A	C	3: 142,252,211 (GRCm39)	D598A	probably benign	Het
Gm1110	T	A	9: 26,794,526 (GRCm39)	D500V	probably benign	Het
Gm3248	T	A	14: 5,943,928 (GRCm38)	M99L	probably benign	Het
Gpi-ps	A	T	8: 5,689,896 (GRCm39)		noncoding transcript	Het
Hspa9	G	A	18: 35,081,028 (GRCm39)	R218*	probably null	Het
Ikbip	G	A	10: 90,929,119 (GRCm39)		probably null	Het
Kcnb2	C	T	1: 15,781,033 (GRCm39)	T635M	probably benign	Het
Krtap29-1	T	A	11: 99,869,105 (GRCm39)	I259F	possibly damaging	Het
Lnpep	T	C	17: 17,791,219 (GRCm39)	T442A	probably benign	Het
Mgat1	T	A	11: 49,151,562 (GRCm39)	I15N	probably damaging	Het
Nlrp9c	A	T	7: 26,084,576 (GRCm39)	S334R	probably benign	Het
Notch2	A	T	3: 98,054,612 (GRCm39)	D2425V	probably damaging	Het
Ntn1	C	T	11: 68,104,089 (GRCm39)	V520M	probably damaging	Het
Or10d1b	A	G	9: 39,613,549 (GRCm39)	V172A	probably damaging	Het
Or4p18	T	A	2: 88,232,421 (GRCm39)	T286S	possibly damaging	Het
Or5d39	A	T	2: 87,979,922 (GRCm39)	V147E	probably damaging	Het
Or6c3b	T	A	10: 129,527,887 (GRCm39)	T8S	probably benign	Het
Or8g55	A	T	9: 39,784,781 (GRCm39)	D70V	probably damaging	Het
Or8k39	A	C	2: 86,563,521 (GRCm39)	I145R	possibly damaging	Het
Osr2	A	G	15: 35,302,138 (GRCm39)	H246R	probably damaging	Het
Papolg	T	C	11: 23,829,898 (GRCm39)	R224G	probably damaging	Het
Pax6	T	A	2: 105,522,623 (GRCm39)		probably null	Het
Pcyox1	A	G	6: 86,369,250 (GRCm39)	V192A	probably benign	Het
Phf1	C	T	17: 27,154,260 (GRCm39)	A159V	possibly damaging	Het
Ppfia4	G	A	1: 134,260,129 (GRCm39)	R45W	probably damaging	Het
Psmb9	T	A	17: 34,402,653 (GRCm39)	K109M	probably damaging	Het
Ptprt	T	A	2: 161,769,593 (GRCm39)	Y424F	probably benign	Het
Ptrh2	A	G	11: 86,580,592 (GRCm39)	I70V	probably benign	Het
Rnf213	G	A	11: 119,309,135 (GRCm39)		probably benign	Het
Rom1	T	A	19: 8,905,368 (GRCm39)	I271F	probably benign	Het
Satb2	T	A	1: 56,835,952 (GRCm39)	D731V	possibly damaging	Het
Serpinb7	G	T	1: 107,375,859 (GRCm39)	G159V	possibly damaging	Het
Spata20	T	A	11: 94,374,289 (GRCm39)	D327V	probably damaging	Het
Spata31e3	G	A	13: 50,400,721 (GRCm39)	P535L	probably benign	Het
Spmap2l	A	T	5: 77,208,605 (GRCm39)	I378L	probably benign	Het
Tbc1d32	G	T	10: 56,027,871 (GRCm39)	Q744K	possibly damaging	Het
Tmem108	G	T	9: 103,366,439 (GRCm39)	N517K	possibly damaging	Het
Trp63	T	A	16: 25,681,211 (GRCm39)	N160K	probably damaging	Het
Ttll5	T	C	12: 85,980,385 (GRCm39)	S119P	probably damaging	Het
Ubqln3	T	A	7: 103,791,523 (GRCm39)	Q189L	probably damaging	Het
Vwa5a	G	A	9: 38,649,072 (GRCm39)	R638H	probably benign	Het
Wdr3	A	G	3: 100,058,298 (GRCm39)	S436P	probably damaging	Het
Zfp975	A	T	7: 42,312,215 (GRCm39)	C133S	probably damaging	Het
Zfp976	A	T	7: 42,263,656 (GRCm39)		probably benign	Het
Zmiz1	A	G	14: 25,657,303 (GRCm39)	M860V	probably damaging	Het
Zscan4d	T	C	7: 10,896,296 (GRCm39)	E358G	probably benign	Het

Other mutations in Slit1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00162:Slit1	APN	19	41,639,274 (GRCm39)	missense	probably damaging	1.00
IGL00515:Slit1	APN	19	41,612,940 (GRCm39)	missense	probably damaging	0.97
IGL00909:Slit1	APN	19	41,590,694 (GRCm39)	missense	possibly damaging	0.89
IGL00953:Slit1	APN	19	41,590,739 (GRCm39)	missense	probably damaging	1.00
IGL01116:Slit1	APN	19	41,594,824 (GRCm39)	missense	possibly damaging	0.93
IGL01457:Slit1	APN	19	41,599,483 (GRCm39)	missense	probably damaging	1.00
IGL01688:Slit1	APN	19	41,717,545 (GRCm39)	missense	probably damaging	1.00
IGL01720:Slit1	APN	19	41,622,653 (GRCm39)	missense	probably benign	0.01
IGL01925:Slit1	APN	19	41,596,817 (GRCm39)	missense	probably damaging	0.98
IGL02312:Slit1	APN	19	41,590,119 (GRCm39)	missense	possibly damaging	0.66
IGL02398:Slit1	APN	19	41,590,676 (GRCm39)	missense	probably damaging	1.00
IGL02542:Slit1	APN	19	41,615,687 (GRCm39)	missense	probably damaging	1.00
IGL02559:Slit1	APN	19	41,709,524 (GRCm39)	missense	probably benign	0.01
IGL02609:Slit1	APN	19	41,590,743 (GRCm39)	missense	probably damaging	0.99
IGL02623:Slit1	APN	19	41,640,122 (GRCm39)	missense	probably damaging	0.98
IGL02729:Slit1	APN	19	41,591,773 (GRCm39)	missense	probably damaging	1.00
IGL03230:Slit1	APN	19	41,717,524 (GRCm39)	missense	probably damaging	1.00
IGL03387:Slit1	APN	19	41,591,881 (GRCm39)	missense	possibly damaging	0.57
PIT4576001:Slit1	UTSW	19	41,612,988 (GRCm39)	missense	possibly damaging	0.52
R0366:Slit1	UTSW	19	41,599,470 (GRCm39)	missense	probably damaging	1.00
R0432:Slit1	UTSW	19	41,731,732 (GRCm39)	missense	probably damaging	0.98
R0496:Slit1	UTSW	19	41,596,750 (GRCm39)	splice site	probably benign
R0722:Slit1	UTSW	19	41,596,874 (GRCm39)	missense	probably damaging	1.00
R1468:Slit1	UTSW	19	41,596,823 (GRCm39)	missense	probably damaging	1.00
R1468:Slit1	UTSW	19	41,596,823 (GRCm39)	missense	probably damaging	1.00
R1488:Slit1	UTSW	19	41,596,824 (GRCm39)	missense	probably damaging	1.00
R1615:Slit1	UTSW	19	41,639,110 (GRCm39)	splice site	probably benign
R1694:Slit1	UTSW	19	41,626,031 (GRCm39)	missense	possibly damaging	0.69
R1762:Slit1	UTSW	19	41,591,774 (GRCm39)	missense	probably damaging	1.00
R1842:Slit1	UTSW	19	41,709,477 (GRCm39)	critical splice donor site	probably null
R1844:Slit1	UTSW	19	41,614,012 (GRCm39)	missense	probably damaging	1.00
R1940:Slit1	UTSW	19	41,619,215 (GRCm39)	missense	probably damaging	1.00
R2087:Slit1	UTSW	19	41,625,922 (GRCm39)	missense	probably benign	0.00
R2094:Slit1	UTSW	19	41,594,819 (GRCm39)	missense	probably damaging	0.99
R2095:Slit1	UTSW	19	41,594,819 (GRCm39)	missense	probably damaging	0.99
R2104:Slit1	UTSW	19	41,590,686 (GRCm39)	missense	possibly damaging	0.69
R2305:Slit1	UTSW	19	41,599,455 (GRCm39)	missense	probably benign	0.03
R2972:Slit1	UTSW	19	41,599,455 (GRCm39)	missense	probably benign	0.03
R2973:Slit1	UTSW	19	41,599,455 (GRCm39)	missense	probably benign	0.03
R2974:Slit1	UTSW	19	41,599,455 (GRCm39)	missense	probably benign	0.03
R3159:Slit1	UTSW	19	41,592,812 (GRCm39)	missense	probably benign
R3752:Slit1	UTSW	19	41,635,406 (GRCm39)	critical splice donor site	probably null
R4095:Slit1	UTSW	19	41,596,925 (GRCm39)	intron	probably benign
R4282:Slit1	UTSW	19	41,602,856 (GRCm39)	missense	probably benign
R4417:Slit1	UTSW	19	41,602,908 (GRCm39)	missense	probably damaging	1.00
R4607:Slit1	UTSW	19	41,605,232 (GRCm39)	missense	probably benign	0.10
R4729:Slit1	UTSW	19	41,635,459 (GRCm39)	missense	probably damaging	1.00
R4756:Slit1	UTSW	19	41,637,452 (GRCm39)	missense	probably damaging	1.00
R4764:Slit1	UTSW	19	41,709,483 (GRCm39)	nonsense	probably null
R4849:Slit1	UTSW	19	41,637,983 (GRCm39)	missense	probably benign	0.17
R4874:Slit1	UTSW	19	41,717,493 (GRCm39)	critical splice donor site	probably null
R5581:Slit1	UTSW	19	41,605,102 (GRCm39)	critical splice donor site	probably null
R5699:Slit1	UTSW	19	41,613,959 (GRCm39)	critical splice donor site	probably null
R5888:Slit1	UTSW	19	41,731,735 (GRCm39)	missense	probably damaging	1.00
R5906:Slit1	UTSW	19	41,594,813 (GRCm39)	missense	probably damaging	1.00
R6176:Slit1	UTSW	19	41,626,034 (GRCm39)	missense	probably damaging	1.00
R6277:Slit1	UTSW	19	41,588,948 (GRCm39)	missense	possibly damaging	0.81
R6702:Slit1	UTSW	19	41,603,309 (GRCm39)	missense	possibly damaging	0.95
R6860:Slit1	UTSW	19	41,605,154 (GRCm39)	missense	probably benign	0.10
R7015:Slit1	UTSW	19	41,618,325 (GRCm39)	nonsense	probably null
R7172:Slit1	UTSW	19	41,623,105 (GRCm39)	missense	probably damaging	1.00
R7512:Slit1	UTSW	19	41,589,074 (GRCm39)	missense	probably damaging	1.00
R7568:Slit1	UTSW	19	41,590,074 (GRCm39)	missense	probably damaging	1.00
R7614:Slit1	UTSW	19	41,622,639 (GRCm39)	missense	probably damaging	1.00
R7650:Slit1	UTSW	19	41,618,363 (GRCm39)	missense	probably damaging	1.00
R7687:Slit1	UTSW	19	41,639,128 (GRCm39)	missense	probably benign	0.03
R7732:Slit1	UTSW	19	41,592,847 (GRCm39)	missense	probably benign	0.01
R7947:Slit1	UTSW	19	41,599,248 (GRCm39)	missense	probably benign
R7947:Slit1	UTSW	19	41,599,247 (GRCm39)	missense	probably damaging	1.00
R8171:Slit1	UTSW	19	41,715,512 (GRCm39)	missense	probably damaging	0.97
R8217:Slit1	UTSW	19	41,612,959 (GRCm39)	missense	possibly damaging	0.60
R8355:Slit1	UTSW	19	41,634,473 (GRCm39)	missense	probably damaging	1.00
R9025:Slit1	UTSW	19	41,612,968 (GRCm39)	missense	probably benign	0.01
R9124:Slit1	UTSW	19	41,594,951 (GRCm39)	missense	probably benign	0.02
R9288:Slit1	UTSW	19	41,613,144 (GRCm39)	intron	probably benign
R9343:Slit1	UTSW	19	41,615,737 (GRCm39)	missense	probably damaging	1.00
R9435:Slit1	UTSW	19	41,591,764 (GRCm39)	critical splice donor site	probably null
R9563:Slit1	UTSW	19	41,596,874 (GRCm39)	missense	probably damaging	1.00
R9564:Slit1	UTSW	19	41,591,861 (GRCm39)	missense	probably benign	0.16
R9595:Slit1	UTSW	19	41,637,851 (GRCm39)	missense	probably damaging	1.00
R9667:Slit1	UTSW	19	41,731,832 (GRCm39)	nonsense	probably null
X0023:Slit1	UTSW	19	41,590,079 (GRCm39)	missense	probably benign

Posted On

2014-05-07