Mutagenetix > Incidental Mutation

Incidental Mutation 'R2972:Slit1'

255258

Institutional Source

Beutler Lab

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 #

R2972 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41588696-41732104 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 41599455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 1032 (P1032L)

Ref Sequence

ENSEMBL: ENSMUSP00000129034 (fasta)

Gene Model

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

AlphaFold

Q80TR4

Predicted Effect

probably benign
Transcript: ENSMUST00000025993
AA Change: P1032L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000025993
Gene: ENSMUSG00000025020
AA Change: P1032L

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 benign
Transcript: ENSMUST00000166496
AA Change: P1032L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000128381
Gene: ENSMUSG00000025020
AA Change: P1032L

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 benign
Transcript: ENSMUST00000169141
AA Change: P1032L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000129034
Gene: ENSMUSG00000025020
AA Change: P1032L

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

0.2726

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
BC048507	T	C	13: 68,011,749 (GRCm39)	I42T	probably benign	Het
Card9	C	T	2: 26,247,222 (GRCm39)	R309H	probably damaging	Het
Clec14a	T	A	12: 58,314,360 (GRCm39)	R421W	probably damaging	Het
Crnkl1	A	G	2: 145,774,181 (GRCm39)	L94P	probably benign	Het
D930007J09Rik	C	T	13: 32,986,742 (GRCm39)		probably benign	Het
Dhrs7c	T	A	11: 67,706,697 (GRCm39)	I285N	possibly damaging	Het
Golga2	A	G	2: 32,195,671 (GRCm39)	N752S	probably benign	Het
Klrb1-ps1	A	G	6: 129,096,719 (GRCm39)		noncoding transcript	Het
Nin	G	A	12: 70,109,487 (GRCm39)	R151C	probably damaging	Het
Nsun6	A	C	2: 15,042,883 (GRCm39)		probably null	Het
Nyap2	C	T	1: 81,169,485 (GRCm39)	R81*	probably null	Het
Or1n2	G	A	2: 36,797,416 (GRCm39)	V153M	probably benign	Het
Or4a69	G	T	2: 89,313,120 (GRCm39)	R120S	possibly damaging	Het
Pkhd1l1	T	A	15: 44,410,644 (GRCm39)	M2717K	possibly damaging	Het
Ralgapa1	T	C	12: 55,867,540 (GRCm39)	K5E	possibly damaging	Het
Rnf130	T	A	11: 49,984,627 (GRCm39)	L309*	probably null	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rxrg	G	A	1: 167,466,715 (GRCm39)	R422H	probably damaging	Het
Serpinb9e	T	A	13: 33,439,126 (GRCm39)	V184E	probably benign	Het
Slc10a5	A	T	3: 10,399,517 (GRCm39)	I381N	probably damaging	Het
Sptlc3	A	G	2: 139,431,581 (GRCm39)	T368A	probably damaging	Het
Ubr4	T	C	4: 139,133,847 (GRCm39)	Y748H	probably benign	Het
Ugt8a	T	C	3: 125,708,957 (GRCm39)	H51R	probably benign	Het
Vmn2r117	A	G	17: 23,678,830 (GRCm39)	V798A	probably damaging	Het
Vmn2r77	T	C	7: 86,452,893 (GRCm39)	Y537H	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
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
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
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'- ACACATTGGGCCTCATGCTG -3'
(R):5'- ACCATTGGTGTGGAATAAGGACTC -3'

Sequencing Primer
(F):5'- ATGCTGACACGGGTTCATATC -3'
(R):5'- TGTGGAATAAGGACTCTGGCC -3'

Posted On

2014-12-29