Mutagenetix > Incidental Mutations

Incidental Mutation 'R6563:Srcin1'

522565

Institutional Source

Beutler Lab

Gene Symbol

Srcin1

Ensembl Gene

ENSMUSG00000038453

Gene Name

SRC kinase signaling inhibitor 1

Synonyms

p140Cap, P140

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6563 (G1)

Quality Score

112.008

Status

Validated

Chromosome

Chromosomal Location

97509340-97576186 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97534774 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 486 (Y486N)

Ref Sequence

ENSEMBL: ENSMUSP00000103222 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107590
AA Change: Y487N

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000103216
Gene: ENSMUSG00000038453
AA Change: Y487N

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: Y487N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103219
Gene: ENSMUSG00000038453
AA Change: Y487N

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

possibly damaging
Transcript: ENSMUST00000107596
AA Change: Y486N

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103222
Gene: ENSMUSG00000038453
AA Change: Y486N

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

SMART Domains

Protein: ENSMUSP00000116444
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	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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (39/39)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410131K14Rik	T	C	5: 118,258,982	V92A	possibly damaging	Het
Arhgap11a	A	T	2: 113,833,902	C679S	probably benign	Het
Atg4d	C	T	9: 21,268,460	L235F	possibly damaging	Het
Cyp2d22	A	T	15: 82,371,912	W174R	probably damaging	Het
Cyp4a14	T	A	4: 115,492,086	H259L	probably benign	Het
Dennd3	A	T	15: 73,544,380	H493L	probably damaging	Het
Diexf	C	A	1: 193,118,390	R374L	probably damaging	Het
Dnm1	T	A	2: 32,312,726	D759V	probably damaging	Het
Dvl1	T	A	4: 155,856,253	N443K	probably damaging	Het
Dync2h1	A	G	9: 7,120,819	V2156A	probably benign	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Ermp1	T	C	19: 29,623,778	D523G	probably damaging	Het
Fam83c	A	G	2: 155,830,952	V295A	probably damaging	Het
Gphn	T	C	12: 78,680,396		probably null	Het
Irs1	T	A	1: 82,288,407	N696I	probably damaging	Het
Kmt5c	A	G	7: 4,742,629	Y96C	probably damaging	Het
Krt77	G	T	15: 101,862,923	T315N	probably damaging	Het
L3mbtl3	A	C	10: 26,302,863		probably null	Het
Lama3	A	T	18: 12,537,766	Y2409F	probably damaging	Het
Lrrc9	A	G	12: 72,486,395		probably null	Het
Ltbp4	A	T	7: 27,309,063	N1273K	probably damaging	Het
Mfsd13b	G	A	7: 120,995,467	A321T	probably damaging	Het
Mvb12b	A	T	2: 33,825,116	H167Q	probably benign	Het
Myo1g	T	A	11: 6,517,146	N230Y	possibly damaging	Het
Olfr57	A	T	10: 79,035,217	R140S	possibly damaging	Het
Prkar2b	G	T	12: 31,993,786		probably null	Het
Pwwp2a	G	T	11: 43,705,765	A586S	possibly damaging	Het
Ryr1	A	G	7: 29,095,492	V1150A	possibly damaging	Het
Sh3bgr	A	G	16: 96,205,943		probably null	Het
Slk	T	C	19: 47,636,469		probably null	Het
Snx3	A	G	10: 42,526,036	E82G	possibly damaging	Het
Tecpr2	A	G	12: 110,929,087	E336G	probably benign	Het
Terf2ip	G	T	8: 112,018,202	V384F	probably damaging	Het
Tnn	T	A	1: 160,088,398	S1250C	probably damaging	Het
Tspoap1	A	G	11: 87,777,159	E1263G	possibly damaging	Het
Tubgcp5	A	G	7: 55,825,661	R932G	possibly damaging	Het
Vmn1r175	A	G	7: 23,808,605	I199T	possibly damaging	Het
Vmn1r225	C	T	17: 20,502,501	A68V	probably benign	Het
Vmn2r24	A	T	6: 123,804,178	N448Y	possibly 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
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
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
R7304:Srcin1	UTSW	11	97551693	missense	probably benign	0.01
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
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'- AGCCCGAATCTTTGCGGAAG -3'
(R):5'- TGAAGCCAGATGAGGACCTG -3'

Sequencing Primer
(F):5'- CCGAATCTTTGCGGAAGGACTG -3'
(R):5'- CATGGTGCTGGTGAAGGGC -3'

Posted On

2018-06-06