Mutagenetix > Incidental Mutations

Incidental Mutation 'R4628:Srcin1'

348978

Institutional Source

Beutler Lab

Gene Symbol

Srcin1

Ensembl Gene

ENSMUSG00000038453

Gene Name

SRC kinase signaling inhibitor 1

Synonyms

p140Cap, P140

MMRRC Submission

041893-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.432) question?

Stock #

R4628 (G1)

Quality Score

124

Status

Not validated

Chromosome

Chromosomal Location

97509340-97576186 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 97548926 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 126 (H126L)

Ref Sequence

ENSEMBL: ENSMUSP00000103222 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107590] [ENSMUST00000107593] [ENSMUST00000107596] [ENSMUST00000126287] [ENSMUST00000207653]

Predicted Effect

probably benign
Transcript: ENSMUST00000107590

SMART Domains

Protein: ENSMUSP00000103216
Gene: ENSMUSG00000038453

Domain	Start	End	E-Value	Type
low complexity region	26	45	N/A	INTRINSIC
low complexity region	66	75	N/A	INTRINSIC
Blast:THAP	113	142	1e-9	BLAST
low complexity region	332	366	N/A	INTRINSIC
low complexity region	489	501	N/A	INTRINSIC
low complexity region	516	538	N/A	INTRINSIC
low complexity region	558	575	N/A	INTRINSIC
low complexity region	655	679	N/A	INTRINSIC
low complexity region	699	712	N/A	INTRINSIC
coiled coil region	751	784	N/A	INTRINSIC
low complexity region	1034	1051	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107593

SMART Domains

Protein: ENSMUSP00000103219
Gene: ENSMUSG00000038453

Domain	Start	End	E-Value	Type
low complexity region	26	45	N/A	INTRINSIC
low complexity region	66	75	N/A	INTRINSIC
Blast:THAP	113	142	1e-9	BLAST
low complexity region	332	366	N/A	INTRINSIC
low complexity region	489	501	N/A	INTRINSIC
low complexity region	516	538	N/A	INTRINSIC
low complexity region	558	575	N/A	INTRINSIC
low complexity region	655	679	N/A	INTRINSIC
low complexity region	699	712	N/A	INTRINSIC
coiled coil region	751	784	N/A	INTRINSIC
low complexity region	1034	1051	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107596
AA Change: H126L

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103222
Gene: ENSMUSG00000038453
AA Change: H126L

Domain	Start	End	E-Value	Type
low complexity region	32	41	N/A	INTRINSIC
Blast:THAP	79	108	8e-10	BLAST
low complexity region	118	128	N/A	INTRINSIC
Pfam:AIP3	218	330	2e-11	PFAM
low complexity region	331	365	N/A	INTRINSIC
low complexity region	488	500	N/A	INTRINSIC
low complexity region	515	537	N/A	INTRINSIC
low complexity region	557	574	N/A	INTRINSIC
low complexity region	654	678	N/A	INTRINSIC
low complexity region	698	711	N/A	INTRINSIC
coiled coil region	750	783	N/A	INTRINSIC
low complexity region	1033	1050	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126287
AA Change: H160L

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000116444
Gene: ENSMUSG00000038453
AA Change: H160L

Domain	Start	End	E-Value	Type
low complexity region	26	45	N/A	INTRINSIC
low complexity region	66	75	N/A	INTRINSIC
Blast:THAP	113	142	7e-10	BLAST
low complexity region	152	162	N/A	INTRINSIC
Pfam:AIP3	244	339	9.7e-10	PFAM
low complexity region	357	391	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142123

Predicted Effect

probably benign
Transcript: ENSMUST00000207653

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele display abnormalities in object recognition memory and motor learning, dendritic spine disorganization, impaired synaptic plasticity, and reduced long term potentiation and long term depression. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410131K14Rik	G	C	5: 118,259,414	A154P	probably damaging	Het
Abca7	G	T	10: 80,015,188		probably null	Het
Abcb4	A	G	5: 8,907,399	D176G	probably benign	Het
Adamts18	C	T	8: 113,773,168	W371*	probably null	Het
AF366264	T	A	8: 13,836,625	R489W	probably damaging	Het
Akr1c13	G	T	13: 4,197,870	V214F	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Ankrd12	T	C	17: 65,985,994	T815A	probably benign	Het
Arid3a	T	C	10: 79,931,158	S89P	possibly damaging	Het
Ass1	A	T	2: 31,480,988	D63V	probably damaging	Het
Atxn3	T	A	12: 101,923,078		probably benign	Het
Bcap29	C	T	12: 31,626,807	S88N	probably benign	Het
Bsn	G	T	9: 108,113,235	P1773T	probably damaging	Het
Ccdc141	A	G	2: 77,059,680	S423P	probably benign	Het
Cfap46	A	T	7: 139,680,927	L85Q	probably damaging	Het
Chd8	T	C	14: 52,206,915	R438G	probably benign	Het
Chd9	T	A	8: 90,983,463	M289K	probably benign	Het
Col14a1	T	A	15: 55,449,833	Y26*	probably null	Het
Colec10	A	G	15: 54,459,731	T117A	possibly damaging	Het
Colq	C	A	14: 31,544,022	G178V	probably damaging	Het
Defb3	A	T	8: 19,295,140	R37S	probably benign	Het
Duox1	A	G	2: 122,346,252	Y1418C	probably damaging	Het
Engase	C	T	11: 118,484,905	S33F	probably damaging	Het
Erich3	A	T	3: 154,763,687	T1259S	probably damaging	Het
Fam98c	T	C	7: 29,155,268	T49A	possibly damaging	Het
Fhod3	T	A	18: 25,120,129	F1379I	possibly damaging	Het
Fndc3b	T	C	3: 27,556,128	I86V	probably benign	Het
Gm1123	A	G	9: 99,014,236	V197A	probably damaging	Het
Gm4847	A	T	1: 166,630,395	V463E	probably damaging	Het
Gm9772	T	C	17: 22,007,207	K32R	probably damaging	Het
Gm9804	T	C	12: 49,401,757	S161P	unknown	Het
Gpr162	C	T	6: 124,861,442	D82N	probably benign	Het
Grid2ip	T	C	5: 143,382,875	V650A	probably damaging	Het
Hs1bp3	T	C	12: 8,336,357	V253A	probably benign	Het
Hsd3b6	T	G	3: 98,806,579	K135Q	possibly damaging	Het
Igfn1	T	C	1: 135,959,730	D2532G	possibly damaging	Het
Iqgap2	A	G	13: 95,763,329	Y74H	probably benign	Het
Itga2	A	G	13: 114,877,693	V233A	probably benign	Het
Kat14	A	G	2: 144,404,220		probably benign	Het
Kctd21	A	G	7: 97,347,575	D85G	probably damaging	Het
Kera	A	G	10: 97,609,631	N284S	probably benign	Het
Krt1	C	T	15: 101,846,187	G543S	unknown	Het
Lcmt1	T	A	7: 123,410,812	C183*	probably null	Het
Lcn5	A	G	2: 25,658,063	E28G	possibly damaging	Het
Leo1	A	T	9: 75,445,697	D174V	probably damaging	Het
Llgl1	A	T	11: 60,709,985	T636S	probably damaging	Het
Lrrc8e	T	A	8: 4,233,981	C69S	probably damaging	Het
Maml3	A	T	3: 51,796,470		probably benign	Het
Maz	G	T	7: 127,025,347	H334N	possibly damaging	Het
Mcm6	T	C	1: 128,351,548	D167G	probably benign	Het
Mrpl24	A	C	3: 87,922,129		probably null	Het
Myo18a	G	A	11: 77,824,136	V834M	probably damaging	Het
Neb	T	A	2: 52,308,350	R461*	probably null	Het
Notch4	C	A	17: 34,570,185	T486N	probably damaging	Het
Nphp3	A	G	9: 104,003,058	E93G	probably damaging	Het
Nup188	A	G	2: 30,329,346	Y858C	probably damaging	Het
Olfr339	T	A	2: 36,421,857	L153*	probably null	Het
Olfr45	T	A	7: 140,691,378	S158T	probably benign	Het
Olfr61	C	T	7: 140,638,384	R228C	probably benign	Het
Otud4	T	A	8: 79,639,968	D21E	possibly damaging	Het
Ovgp1	T	A	3: 105,980,323		probably null	Het
Pdia3	A	T	2: 121,414,139	N11I	possibly damaging	Het
Pex5	T	C	6: 124,403,120	D286G	possibly damaging	Het
Pias3	T	C	3: 96,699,820	I133T	probably damaging	Het
Postn	A	G	3: 54,372,157	D352G	probably damaging	Het
Prl7c1	T	C	13: 27,778,082	R81G	probably benign	Het
Rmi1	A	G	13: 58,409,136	R400G	probably benign	Het
Rtraf	T	A	14: 19,817,087	N116I	probably benign	Het
Slc6a12	T	A	6: 121,351,992	C50*	probably null	Het
Tmtc2	A	T	10: 105,303,650	S672T	probably benign	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Ube2c	A	G	2: 164,772,173	N143S	possibly damaging	Het
Uroc1	A	T	6: 90,355,328	I556F	probably damaging	Het
Vmn1r124	T	A	7: 21,260,377	K81*	probably null	Het
Vmn1r57	T	A	7: 5,220,973	C166S	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vmn2r68	A	G	7: 85,234,465	V144A	probably benign	Het
Vmn2r85	C	T	10: 130,425,366	M367I	probably benign	Het
Vwa3a	T	A	7: 120,793,375	N812K	probably benign	Het
Wdfy4	A	T	14: 33,102,558	N1301K	probably damaging	Het
Zfhx4	G	A	3: 5,403,476	R2898H	probably damaging	Het

Other mutations in Srcin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01874:Srcin1	APN	11	97533098	missense	possibly damaging	0.81
IGL03347:Srcin1	APN	11	97525344	missense	probably damaging	1.00
R1619:Srcin1	UTSW	11	97525481	missense	probably damaging	1.00
R1678:Srcin1	UTSW	11	97518644	missense	probably damaging	0.99
R1733:Srcin1	UTSW	11	97533501	missense	probably benign
R2023:Srcin1	UTSW	11	97526046	missense	probably benign
R2238:Srcin1	UTSW	11	97534819	missense	probably benign	0.00
R3983:Srcin1	UTSW	11	97525553	missense	probably damaging	1.00
R4572:Srcin1	UTSW	11	97534934	missense	probably damaging	1.00
R4946:Srcin1	UTSW	11	97551942	missense	probably damaging	1.00
R5175:Srcin1	UTSW	11	97573877	missense	probably damaging	0.99
R5424:Srcin1	UTSW	11	97537059	nonsense	probably null
R5705:Srcin1	UTSW	11	97548951	missense	probably benign	0.42
R5918:Srcin1	UTSW	11	97533497	unclassified	probably null
R6563:Srcin1	UTSW	11	97534774	missense	possibly damaging	0.74
R6613:Srcin1	UTSW	11	97533827	missense	possibly damaging	0.94
R6756:Srcin1	UTSW	11	97535010	missense	probably damaging	1.00
R6805:Srcin1	UTSW	11	97551980	critical splice acceptor site	probably null
X0024:Srcin1	UTSW	11	97536468	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGATGTGAATCCAGGGTGTG -3'
(R):5'- AGTACCAGCCACTGTGAAGG -3'

Sequencing Primer
(F):5'- TCTTGAAAGTGGAGTATTCGCAC -3'
(R):5'- TGTGAAGGCCCCTCCATGAC -3'

Posted On

2015-10-08