Mutagenetix > Incidental Mutation

Incidental Mutation 'R9343:Slit1'

716006

Institutional Source

Beutler Lab

Gene Symbol

Slit1

Ensembl Gene

ENSMUSG00000025020

Gene Name

slit guidance ligand 1

Synonyms

Slil1

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9343 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41600257-41743665 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41627298 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 794 (N794I)

Ref Sequence

ENSEMBL: ENSMUSP00000025993 (fasta)

Gene Model

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

AlphaFold

Q80TR4

Predicted Effect

probably damaging
Transcript: ENSMUST00000025993
AA Change: N794I

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

SMART Domains

Protein: ENSMUSP00000025993
Gene: ENSMUSG00000025020
AA Change: N794I

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: N794I

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

SMART Domains

Protein: ENSMUSP00000128381
Gene: ENSMUSG00000025020
AA Change: N794I

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: N794I

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

SMART Domains

Protein: ENSMUSP00000129034
Gene: ENSMUSG00000025020
AA Change: N794I

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

Meta Mutation Damage Score

0.8555

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (45/45)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	A	G	2: 103,717,160	I960V	probably benign	Het
Alpk3	A	G	7: 81,092,331	D632G	probably benign	Het
Aplp2	A	T	9: 31,211,639	L30Q	unknown	Het
Axl	A	T	7: 25,774,119	Y361N	probably damaging	Het
Brinp2	A	T	1: 158,249,520		probably benign	Het
Bsn	T	C	9: 108,115,502	D1017G	probably damaging	Het
Cc2d2a	A	T	5: 43,718,657	D1046V	probably damaging	Het
Cdc42bpg	G	A	19: 6,314,523	G594S	probably damaging	Het
Clcn6	A	G	4: 148,014,001	S519P	probably benign	Het
Cnot2	T	G	10: 116,510,421	H92P		Het
Col2a1	T	C	15: 97,979,894	D1049G	probably damaging	Het
Creld1	C	T	6: 113,489,767	A237V	probably benign	Het
Csf2rb2	A	T	15: 78,287,087		probably benign	Het
Csmd3	G	A	15: 48,151,605	T643I	probably damaging	Het
Fam186b	G	A	15: 99,279,735	A570V	probably damaging	Het
Fcmr	A	T	1: 130,874,335	T109S		Het
Grap	C	A	11: 61,671,725	P174Q	possibly damaging	Het
Itgb5	T	A	16: 33,910,456		probably benign	Het
Kidins220	A	G	12: 25,008,079	N561S	probably damaging	Het
Mkl2	T	C	16: 13,400,927	V479A	probably benign	Het
Mri1	A	T	8: 84,257,167	S32T	probably benign	Het
Muc4	A	T	16: 32,751,153	T344S	possibly damaging	Het
Npc1	A	G	18: 12,201,712	I661T	possibly damaging	Het
Npy1r	A	G	8: 66,704,099	N57S	probably damaging	Het
Pds5b	A	G	5: 150,780,721	D863G	probably damaging	Het
Phf14	T	A	6: 11,961,564	V400D	probably damaging	Het
Polr2l	A	G	7: 141,473,333	I56T	probably benign	Het
Ppat	A	G	5: 76,916,037	I422T	probably benign	Het
Prkcg	T	A	7: 3,310,608	S110R	possibly damaging	Het
Rab7b	A	T	1: 131,711,802		probably benign	Het
Rnf152	A	T	1: 105,284,526	L102Q		Het
Samd12	A	G	15: 53,719,692	V82A	probably damaging	Het
Serpina1e	T	A	12: 103,951,040	R123S	probably benign	Het
Surf6	T	C	2: 26,892,994	K154R	probably damaging	Het
Tln2	C	T	9: 67,323,071	A71T	probably benign	Het
Trim3	A	G	7: 105,611,466	Y649H	probably benign	Het
Ttll7	T	A	3: 146,961,742	W808R	probably damaging	Het
Tvp23a	T	C	16: 10,427,423	D104G	probably damaging	Het
Upp2	A	G	2: 58,755,327		probably benign	Het
Vipr1	G	A	9: 121,642,927		probably null	Het
Vmn1r119	A	G	7: 21,012,433	V8A	probably benign	Het
Vmn1r209	T	A	13: 22,806,376	H48L	probably damaging	Het
Wdr11	T	C	7: 129,630,799		probably null	Het
Zcchc17	T	C	4: 130,316,753	D207G	probably damaging	Het
Zfp78	T	C	7: 6,378,943	S331P	probably damaging	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
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
R9025:Slit1	UTSW	19	41624529	missense	probably benign	0.01
R9124:Slit1	UTSW	19	41606512	missense	probably benign	0.02
R9288:Slit1	UTSW	19	41624705	intron	probably benign
R9435:Slit1	UTSW	19	41603325	critical splice donor site	probably null
R9563:Slit1	UTSW	19	41608435	missense	probably damaging	1.00
R9564:Slit1	UTSW	19	41603422	missense	probably benign	0.16
R9595:Slit1	UTSW	19	41649412	missense	probably damaging	1.00
R9667:Slit1	UTSW	19	41743393	nonsense	probably null
X0023:Slit1	UTSW	19	41601640	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCAAAAGCTGGGTGTCATG -3'
(R):5'- AGAGGGAGCTTAGTTGTCAATTGC -3'

Sequencing Primer
(F):5'- CCAAAAGCTGGGTGTCATGTAGTC -3'
(R):5'- GGGAGCTTAGTTGTCAATTGCAAATC -3'

Posted On

2022-06-15