Mutagenetix > Incidental Mutation

Incidental Mutation 'R6702:Slit1'

528842

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 #

R6702 (G1)

Quality Score

202.009

Status

Validated

Chromosome

Chromosomal Location

41600257-41743665 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 41614870 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 931 (S931A)

Ref Sequence

ENSEMBL: ENSMUSP00000129034 (fasta)

Gene Model

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

AlphaFold

Q80TR4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025993
AA Change: S931A

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025993
Gene: ENSMUSG00000025020
AA Change: S931A

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

possibly damaging
Transcript: ENSMUST00000166496
AA Change: S931A

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128381
Gene: ENSMUSG00000025020
AA Change: S931A

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

possibly damaging
Transcript: ENSMUST00000169141
AA Change: S931A

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129034
Gene: ENSMUSG00000025020
AA Change: S931A

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: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

97% (59/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	A	10: 21,621,659	Y66*	probably null	Het
2810474O19Rik	T	A	6: 149,327,878	N807K	probably damaging	Het
Ak3	A	G	19: 29,026,227	V183A	probably damaging	Het
Ano10	G	T	9: 122,259,564	Q397K	possibly damaging	Het
Atg7	C	A	6: 114,671,097		probably null	Het
Brpf3	A	C	17: 28,810,659	N531T	probably benign	Het
Casp2	T	C	6: 42,268,051	V128A	probably benign	Het
Cdcp2	T	C	4: 107,107,086	C378R	probably benign	Het
Cfap54	T	A	10: 92,868,734	D2828V	unknown	Het
Col6a3	T	C	1: 90,779,439	D1984G	unknown	Het
Csnk2a1	A	G	2: 152,258,688	T93A	probably benign	Het
Ddx54	T	A	5: 120,626,503	D758E	possibly damaging	Het
Dlx2	A	G	2: 71,546,227	S56P	probably damaging	Het
Dna2	T	A	10: 62,973,294	I1055N	possibly damaging	Het
Dnah10	A	G	5: 124,805,805	Y2909C	probably damaging	Het
Dnm3	A	G	1: 162,318,687	F296L	probably benign	Het
Fat1	A	G	8: 44,953,046	T945A	probably benign	Het
Herpud1	T	C	8: 94,392,526		probably null	Het
Iqub	T	A	6: 24,449,745	N707I	probably damaging	Het
Kif26b	C	G	1: 178,917,287	S1649R	possibly damaging	Het
Lamp5	C	G	2: 136,059,563	N102K	possibly damaging	Het
Ltbr	A	G	6: 125,308,068	S290P	probably benign	Het
Map4k1	T	G	7: 29,002,396	S803A	possibly damaging	Het
Mef2c	T	A	13: 83,625,406	C134S	possibly damaging	Het
Myo15	A	G	11: 60,492,992	I1622V	probably benign	Het
Nbea	A	G	3: 56,005,502	Y955H	probably benign	Het
Ndor1	A	G	2: 25,249,890	F142S	possibly damaging	Het
Nynrin	A	G	14: 55,864,478	T535A	possibly damaging	Het
Olfr1176	G	A	2: 88,340,242	V226I	probably benign	Het
Olfr1290	T	A	2: 111,490,109		probably null	Het
Olfr205	C	T	16: 59,328,598	V304I	probably benign	Het
Olfr727	A	G	14: 50,127,231	Y218C	probably damaging	Het
Olfr916	A	T	9: 38,657,777	I205N	possibly damaging	Het
Pcdhb13	T	G	18: 37,444,775	H735Q	probably benign	Het
Pcdhb7	A	T	18: 37,341,906	M32L	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Per2	C	T	1: 91,427,949	E696K	probably damaging	Het
Pld4	T	C	12: 112,765,051	S213P	probably damaging	Het
Prkg1	T	A	19: 30,993,084	H209L	probably benign	Het
Psg16	T	C	7: 17,090,396	L35P	probably damaging	Het
Pxn	C	T	5: 115,551,896	L160F	probably benign	Het
Rab3a	A	G	8: 70,756,448	D77G	probably damaging	Het
Rgma	A	T	7: 73,417,320	T108S	probably damaging	Het
Rxrg	A	G	1: 167,613,805	S51G	probably benign	Het
S1pr3	A	T	13: 51,419,439	I219F	probably damaging	Het
Sec23b	A	T	2: 144,559,189		probably null	Het
Sfrp5	G	T	19: 42,201,827	T62K	probably benign	Het
Slco1a6	T	A	6: 142,103,100	Y318F	probably damaging	Het
Sorl1	A	T	9: 42,071,201	V361E	probably damaging	Het
St6galnac2	A	G	11: 116,684,387	S209P	probably benign	Het
Supt6	C	A	11: 78,231,800	R199L	possibly damaging	Het
Tas2r107	A	C	6: 131,659,384	M234R	probably benign	Het
Tmem72	C	G	6: 116,698,349	V61L	probably benign	Het
Trpm5	C	A	7: 143,069,318		probably benign	Het
Ttn	T	G	2: 76,720,112	T23282P	probably damaging	Het
Ubap2	GCCCGCTTGCCCCGCT	GCCCGCTTGCCCCGCTTGCCCCGCT	4: 41,227,210		probably benign	Het
Ubr3	A	T	2: 69,956,049	R836W	probably benign	Het
Umodl1	A	G	17: 30,986,299		probably null	Het
Ythdf1	A	G	2: 180,919,133		probably null	Het
Zfp780b	T	C	7: 27,971,641	T81A	possibly damaging	Het
Zfp811	T	C	17: 32,797,842	E407G	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
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
R9343:Slit1	UTSW	19	41627298	missense	probably damaging	1.00
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'- CTGTCTACAGGTTGGTTCGC -3'
(R):5'- GGAGATATAGCACAACCGTCAC -3'

Sequencing Primer
(F):5'- ACACATCTGTTCTGAGGCAG -3'
(R):5'- AACCGTCACAGACTGGCAGTG -3'

Posted On

2018-07-24