Mutagenetix > Incidental Mutation

Incidental Mutation 'R7304:Srcin1'

567178

Institutional Source

Beutler Lab

Gene Symbol

Srcin1

Ensembl Gene

ENSMUSG00000038453

Gene Name

SRC kinase signaling inhibitor 1

Synonyms

p140Cap, P140

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7304 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97509340-97576186 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97551693 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 103 (D103G)

Ref Sequence

ENSEMBL: ENSMUSP00000103222 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107590
AA Change: D137G

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103216
Gene: ENSMUSG00000038453
AA Change: D137G

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
AA Change: D137G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103219
Gene: ENSMUSG00000038453
AA Change: D137G

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: D103G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000103222
Gene: ENSMUSG00000038453
AA Change: D103G

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

SMART Domains

Protein: ENSMUSP00000116444
Gene: ENSMUSG00000038453
AA Change: D137G

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

probably benign
Transcript: ENSMUST00000207653

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (66/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110008L16Rik	A	G	12: 55,304,644	D246G	probably damaging	Het
Abca13	A	G	11: 9,297,203	S2317G	probably benign	Het
Acap2	A	C	16: 31,108,116	L502R	probably benign	Het
Amotl2	A	G	9: 102,728,350	E467G	probably damaging	Het
Apbb1ip	A	T	2: 22,853,135		probably null	Het
Armc9	C	G	1: 86,162,715	D77E	probably benign	Het
Art1	T	A	7: 102,106,324	S8T	possibly damaging	Het
Asic5	G	A	3: 82,009,565	A321T	possibly damaging	Het
Astn2	A	G	4: 66,185,375	I267T	unknown	Het
Bmp8a	T	C	4: 123,342,389	N107S	probably benign	Het
Card14	T	A	11: 119,337,747	L633Q	probably damaging	Het
Chpf	C	T	1: 75,479,054	V18M	possibly damaging	Het
Cog7	T	C	7: 121,937,139	I493V	probably benign	Het
Col3a1	A	T	1: 45,347,811	N1394I	unknown	Het
Crybg1	C	T	10: 43,997,258	D1285N	probably benign	Het
Depdc7	A	G	2: 104,723,118	V395A	possibly damaging	Het
Dido1	G	A	2: 180,687,493	L379F	probably damaging	Het
Dnajc13	G	T	9: 104,238,514	T32N	probably benign	Het
Dok2	T	A	14: 70,776,028	S133R	probably benign	Het
Ehbp1l1	C	T	19: 5,716,382	R1311H	probably damaging	Het
Gm15922	T	C	7: 3,737,494	T243A	probably damaging	Het
Gm3099	A	T	14: 4,000,520	N118I	probably damaging	Het
Gtse1	A	G	15: 85,871,547	T471A	probably benign	Het
Heg1	G	A	16: 33,760,790	A13T	possibly damaging	Het
Ifi209	A	T	1: 173,642,590	Y248F	possibly damaging	Het
Itgb3bp	C	G	4: 99,769,521	E169Q	probably damaging	Het
Kcna2	A	G	3: 107,104,750	T216A	probably benign	Het
Kcnj6	A	T	16: 94,941,183	M10K	probably benign	Het
Krt17	T	G	11: 100,257,337	Q397P	probably benign	Het
Lrtm1	T	A	14: 29,022,118	M181K	probably damaging	Het
Map3k5	A	G	10: 20,099,555	H741R	probably damaging	Het
Mier1	T	A	4: 103,139,402	Y120*	probably null	Het
Mrvi1	T	C	7: 110,899,724	T367A	possibly damaging	Het
Myh14	T	A	7: 44,629,991	T922S	probably benign	Het
Nfkbie	A	T	17: 45,560,141	I240F	possibly damaging	Het
Npas3	C	A	12: 54,069,041	H915Q	probably damaging	Het
Nrg2	A	T	18: 36,045,941	V314E	probably benign	Het
Olfr373	T	A	8: 72,100,346	Y195*	probably null	Het
Pds5a	T	C	5: 65,619,734	N28S	probably damaging	Het
Pkhd1l1	A	T	15: 44,498,482	N517I	possibly damaging	Het
Plekhb1	T	C	7: 100,645,667	Y99C	probably benign	Het
Plpp6	T	C	19: 28,964,217	S73P	probably benign	Het
Polb	T	C	8: 22,639,959	N199S	probably benign	Het
Ppp1r13b	T	C	12: 111,872,406	N13D	possibly damaging	Het
Ptprn2	T	A	12: 117,248,544	V862D	probably damaging	Het
Rassf4	T	C	6: 116,640,317	I242M	probably damaging	Het
Rnf19a	G	A	15: 36,254,452	T320I	probably damaging	Het
Sctr	A	T	1: 120,022,240	E53V	probably damaging	Het
St3gal3	T	C	4: 117,957,436	Q220R		Het
Stk40	G	A	4: 126,125,690	E86K	probably benign	Het
Tas2r104	T	A	6: 131,685,042	I235F	possibly damaging	Het
Terf2ip	T	C	8: 112,011,648	V56A	possibly damaging	Het
Thsd7b	A	G	1: 130,103,153	N1075S	probably benign	Het
Trak1	A	G	9: 121,416,212	Y51C	probably benign	Het
Trav16n	T	A	14: 53,351,402	V45E	probably benign	Het
Ttc6	T	C	12: 57,576,051	S79P	probably damaging	Het
Unc79	C	T	12: 103,063,190	T484M	probably damaging	Het
Usp49	T	C	17: 47,672,871	V267A	possibly damaging	Het
Vldlr	T	A	19: 27,238,604	D305E	possibly damaging	Het
Vmn1r226	G	T	17: 20,687,749	C81F	probably damaging	Het
Vmn1r73	T	C	7: 11,756,897	V214A	probably damaging	Het
Vmn2r5	T	C	3: 64,504,250	N299S	probably damaging	Het
Vwa3b	T	C	1: 37,164,505	L55S	probably damaging	Het
Wdr90	T	C	17: 25,851,506	D1105G	probably benign	Het
Zbtb38	A	G	9: 96,687,427	S535P	probably damaging	Het
Zfp329	T	C	7: 12,810,899	I233V	probably damaging	Het
Zfp579	T	A	7: 4,994,583	T110S	probably benign	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
R4628:Srcin1	UTSW	11	97548926	missense	probably benign	0.12
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	splice site	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
R7060:Srcin1	UTSW	11	97573885	missense	probably damaging	0.99
R7271:Srcin1	UTSW	11	97551889	missense	probably damaging	0.99
R7469:Srcin1	UTSW	11	97534609	missense	probably damaging	0.98
R7567:Srcin1	UTSW	11	97534725	missense	probably damaging	1.00
R7846:Srcin1	UTSW	11	97526100	nonsense	probably null
R7994:Srcin1	UTSW	11	97531916	missense	probably damaging	1.00
R8203:Srcin1	UTSW	11	97566713	missense	probably damaging	1.00
R8377:Srcin1	UTSW	11	97551978	missense	probably damaging	0.99
R8488:Srcin1	UTSW	11	97525860	splice site	probably null
R8559:Srcin1	UTSW	11	97537149	missense	probably damaging	1.00
R8690:Srcin1	UTSW	11	97523542	missense	probably damaging	1.00
R8794:Srcin1	UTSW	11	97548977	missense	probably benign	0.00
R8982:Srcin1	UTSW	11	97535798	missense	probably damaging	1.00
R9061:Srcin1	UTSW	11	97536380	missense	probably damaging	1.00
R9253:Srcin1	UTSW	11	97525551	missense	probably damaging	1.00
R9632:Srcin1	UTSW	11	97551822	missense	probably benign	0.11
X0024:Srcin1	UTSW	11	97536468	missense	probably damaging	1.00
Z1176:Srcin1	UTSW	11	97518727	missense	possibly damaging	0.88
Z1177:Srcin1	UTSW	11	97526861	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCCTCAATGCCCGAAGCTTC -3'
(R):5'- ATGGGCAGCTCTTTGGCATG -3'

Sequencing Primer
(F):5'- ACATTCTGCCGCTCCAGG -3'
(R):5'- AGACGATGCCGAGTACCCTC -3'

Posted On

2019-06-26