Mutagenetix > Incidental Mutation

Incidental Mutation 'R2095:Slit1'

232079

Institutional Source

Beutler Lab

Gene Symbol

Slit1

Ensembl Gene

ENSMUSG00000025020

Gene Name

slit guidance ligand 1

Synonyms

Slil1

MMRRC Submission

040099-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2095 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41588696-41732104 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 41594819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 1184 (R1184W)

Ref Sequence

ENSEMBL: ENSMUSP00000129034 (fasta)

Gene Model

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

AlphaFold

Q80TR4

Predicted Effect

probably damaging
Transcript: ENSMUST00000025993
AA Change: R1184W

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000025993
Gene: ENSMUSG00000025020
AA Change: R1184W

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: R1184W

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128381
Gene: ENSMUSG00000025020
AA Change: R1184W

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: R1184W

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129034
Gene: ENSMUSG00000025020
AA Change: R1184W

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

noncoding transcript
Transcript: ENSMUST00000169416

Meta Mutation Damage Score

0.4451

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.6%

Validation Efficiency

97% (58/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	C	A	4: 122,596,151 (GRCm39)	Y127*	probably null	Het
Adam33	C	T	2: 130,895,629 (GRCm39)	G562D	probably damaging	Het
Adh1	T	C	3: 137,988,557 (GRCm39)	F177L	probably damaging	Het
Arhgef17	T	C	7: 100,530,470 (GRCm39)	T1439A	probably damaging	Het
Arl5c	C	T	11: 97,884,277 (GRCm39)	E105K	probably damaging	Het
Armc3	T	A	2: 19,293,740 (GRCm39)	D510E	possibly damaging	Het
Bbx	T	C	16: 50,045,052 (GRCm39)	E395G	possibly damaging	Het
Cacna2d2	G	A	9: 107,404,364 (GRCm39)	E1087K	probably benign	Het
Casq1	T	C	1: 172,043,529 (GRCm39)	N113S	probably benign	Het
Cbfa2t3	A	G	8: 123,361,727 (GRCm39)	S432P	probably benign	Het
Ccn2	T	C	10: 24,472,377 (GRCm39)	V140A	probably benign	Het
Cd163	A	G	6: 124,294,781 (GRCm39)	D615G	probably damaging	Het
Chrnb2	A	T	3: 89,668,744 (GRCm39)	D190E	probably benign	Het
Clec9a	T	C	6: 129,393,321 (GRCm39)	L115P	possibly damaging	Het
Cluh	C	T	11: 74,552,550 (GRCm39)	R532*	probably null	Het
Cntnap5a	T	A	1: 116,369,990 (GRCm39)	L869Q	probably damaging	Het
Cyp3a57	A	T	5: 145,305,944 (GRCm39)	K143*	probably null	Het
Dcaf12	G	T	4: 41,294,085 (GRCm39)	H351N	probably benign	Het
Dtna	T	A	18: 23,702,805 (GRCm39)	L112Q	probably damaging	Het
Fnta	G	A	8: 26,489,907 (GRCm39)	Q303*	probably null	Het
Frs2	T	C	10: 116,910,507 (GRCm39)	E285G	probably benign	Het
Gabra4	T	C	5: 71,781,455 (GRCm39)	I293V	probably damaging	Het
Gm2431	A	T	7: 141,811,518 (GRCm39)	C129S	unknown	Het
Gnl2	C	T	4: 124,928,111 (GRCm39)	R49C	probably damaging	Het
Helz	T	A	11: 107,536,972 (GRCm39)	Y275N	probably damaging	Het
Hydin	A	G	8: 111,189,289 (GRCm39)	E1231G	probably damaging	Het
Kctd11	T	A	11: 69,770,402 (GRCm39)	D212V	probably damaging	Het
Klf3	T	A	5: 64,979,245 (GRCm39)	M29K	probably benign	Het
Klhl21	T	C	4: 152,093,850 (GRCm39)	S151P	probably benign	Het
Lsm14b	A	T	2: 179,673,580 (GRCm39)		probably benign	Het
Mlxipl	T	C	5: 135,150,974 (GRCm39)		probably benign	Het
Mov10	G	A	3: 104,708,847 (GRCm39)	R389C	probably damaging	Het
Msh6	A	G	17: 88,295,661 (GRCm39)	M1071V	possibly damaging	Het
Myh8	G	T	11: 67,177,050 (GRCm39)	A401S	probably benign	Het
Ndufv3	T	C	17: 31,746,460 (GRCm39)	S117P	possibly damaging	Het
Obscn	A	T	11: 58,984,410 (GRCm39)		probably null	Het
Or1e22	T	A	11: 73,377,420 (GRCm39)	T77S	probably damaging	Het
Or2l13	T	C	16: 19,305,681 (GRCm39)	I31T	probably benign	Het
Or4c11c	T	C	2: 88,661,634 (GRCm39)	Y58H	probably damaging	Het
Or8g50	T	A	9: 39,648,557 (GRCm39)	Y149N	probably damaging	Het
Pcdhb17	T	A	18: 37,619,375 (GRCm39)	D388E	probably benign	Het
Pgm3	T	C	9: 86,438,394 (GRCm39)	T423A	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
S1pr5	T	A	9: 21,156,154 (GRCm39)	T91S	probably benign	Het
Sgcz	T	C	8: 38,007,546 (GRCm39)		probably benign	Het
Slc33a1	A	G	3: 63,871,376 (GRCm39)	L79P	probably damaging	Het
Slco2a1	A	G	9: 102,954,167 (GRCm39)	T383A	probably benign	Het
Spta1	T	A	1: 174,071,764 (GRCm39)	M2248K	possibly damaging	Het
Stub1	A	G	17: 26,049,864 (GRCm39)	Y304H	probably damaging	Het
Taar7e	T	A	10: 23,913,949 (GRCm39)	Y146*	probably null	Het
Tbc1d1	C	T	5: 64,473,844 (GRCm39)	S660L	probably benign	Het
Tcea2	C	A	2: 181,328,725 (GRCm39)	F259L	probably damaging	Het
Tcp11l1	T	A	2: 104,512,185 (GRCm39)	K482N	probably damaging	Het
Trpv6	C	T	6: 41,598,690 (GRCm39)	R645Q	probably damaging	Het
Uaca	T	A	9: 60,748,125 (GRCm39)	S30T	probably benign	Het
Ubap2	C	G	4: 41,206,901 (GRCm39)	V492L	possibly damaging	Het
Ube3c	T	C	5: 29,873,038 (GRCm39)	F1026S	probably damaging	Het
Vmn2r8	T	G	5: 108,956,487 (GRCm39)	D45A	possibly damaging	Het
Zfp738	G	T	13: 67,819,422 (GRCm39)	L180I	probably damaging	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
IGL02008:Slit1	APN	19	41,634,579 (GRCm39)	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- AGAAACCTTTCCGGGTCATTC -3'
(R):5'- TGGACAGCTCTGTGAGATCC -3'

Sequencing Primer
(F):5'- GGGTCATTCTTCAGGCAGATCC -3'
(R):5'- AGCTCTGTGAGATCCCACCTG -3'

Posted On

2014-09-18