Mutagenetix > Incidental Mutation

Incidental Mutation 'R9253:Srcin1'

701669

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 #

R9253 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

97400166-97466059 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97416377 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 952 (K952E)

Ref Sequence

ENSEMBL: ENSMUSP00000103222 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000107590
AA Change: K953E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103216
Gene: ENSMUSG00000038453
AA Change: K953E

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 damaging
Transcript: ENSMUST00000107593
AA Change: K953E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103219
Gene: ENSMUSG00000038453
AA Change: K953E

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 damaging
Transcript: ENSMUST00000107596
AA Change: K952E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103222
Gene: ENSMUSG00000038453
AA Change: K952E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (63/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	A	G	18: 59,103,013 (GRCm39)	N685D	probably damaging	Het
Adh4	A	T	3: 138,129,860 (GRCm39)	I229F	probably damaging	Het
Ajm1	T	C	2: 25,467,172 (GRCm39)	H913R	possibly damaging	Het
Aldh3b1	T	A	19: 3,965,315 (GRCm39)	S399C	probably damaging	Het
Arhgef28	C	T	13: 98,124,779 (GRCm39)	G501D	probably benign	Het
Asb1	C	A	1: 91,468,551 (GRCm39)	T6N	unknown	Het
Asb18	C	T	1: 89,882,185 (GRCm39)	V382I	probably benign	Het
AU041133	T	C	10: 81,987,220 (GRCm39)	I291T	probably benign	Het
B4galnt2	C	T	11: 95,759,176 (GRCm39)		silent	Het
Bcl7c	T	C	7: 127,306,403 (GRCm39)		probably benign	Het
Brinp1	T	C	4: 68,711,083 (GRCm39)	N375S	possibly damaging	Het
C6	A	G	15: 4,764,679 (GRCm39)	Q125R	probably benign	Het
Card14	T	C	11: 119,212,759 (GRCm39)	S108P	probably benign	Het
Clec4a2	C	A	6: 123,100,608 (GRCm39)	T21N	probably damaging	Het
Cntnap2	C	T	6: 45,978,112 (GRCm39)	L256F	probably benign	Het
Cobll1	G	A	2: 64,981,503 (GRCm39)	T29I	probably benign	Het
Coq4	A	T	2: 29,685,433 (GRCm39)	D149V	probably damaging	Het
Dync1i1	T	C	6: 5,769,698 (GRCm39)	L91S	probably benign	Het
Fat2	T	A	11: 55,201,397 (GRCm39)	D559V	probably damaging	Het
Gm4779	TGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAG	TGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAG	X: 100,836,917 (GRCm39)		probably benign	Het
Gsdmc	A	T	15: 63,676,407 (GRCm39)	V12E	probably damaging	Het
H2-Ab1	T	C	17: 34,486,378 (GRCm39)	S146P	probably damaging	Het
Heatr5b	A	G	17: 79,135,423 (GRCm39)	V236A	probably benign	Het
Hjv	T	C	3: 96,435,710 (GRCm39)	S323P	probably benign	Het
Hmgcr	C	T	13: 96,796,645 (GRCm39)	C215Y	probably damaging	Het
L3mbtl1	G	T	2: 162,789,632 (GRCm39)	A57S	probably benign	Het
Lilrb4b	G	A	10: 51,357,863 (GRCm39)	V186I	probably damaging	Het
Map1a	T	C	2: 121,132,823 (GRCm39)	V1213A	probably benign	Het
Marf1	T	C	16: 13,935,172 (GRCm39)	E1532G	probably damaging	Het
Mcm6	T	C	1: 128,279,264 (GRCm39)	Y174C	probably damaging	Het
Miga2	T	A	2: 30,261,239 (GRCm39)	V178E	probably benign	Het
Myh11	T	A	16: 14,074,359 (GRCm39)	I174F		Het
Ndufv1	G	T	19: 4,059,412 (GRCm39)	A211E	probably damaging	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nlgn3	T	C	X: 100,352,390 (GRCm39)	V179A	probably damaging	Het
Nrp1	T	C	8: 129,229,144 (GRCm39)	V874A	possibly damaging	Het
Nsf	C	T	11: 103,804,142 (GRCm39)	G197S	probably null	Het
Or10al2	A	T	17: 37,983,637 (GRCm39)	H241L	probably benign	Het
Or2t26	T	C	11: 49,039,822 (GRCm39)	M246T	probably damaging	Het
Pacs2	A	G	12: 113,014,137 (GRCm39)	D196G	probably benign	Het
Pbxip1	A	G	3: 89,351,012 (GRCm39)	D118G	probably benign	Het
Pcdhb11	A	T	18: 37,554,529 (GRCm39)		probably benign	Het
Pgk2	C	T	17: 40,519,233 (GRCm39)	G65D	probably damaging	Het
Plcd3	T	C	11: 102,970,460 (GRCm39)	D193G	probably benign	Het
Plcl2	T	G	17: 50,915,127 (GRCm39)	M712R	probably damaging	Het
Plxna1	G	A	6: 89,334,522 (GRCm39)	Q36*	probably null	Het
Plxnb2	A	G	15: 89,052,015 (GRCm39)	V68A	probably benign	Het
Polr2b	A	G	5: 77,493,224 (GRCm39)	I1069V	probably benign	Het
Rbfox1	A	G	16: 7,111,973 (GRCm39)	T200A	probably benign	Het
Rspry1	T	A	8: 95,349,621 (GRCm39)	V3D	probably damaging	Het
Serpinb6d	T	C	13: 33,855,205 (GRCm39)	M293T	probably damaging	Het
Slc4a8	A	G	15: 100,680,913 (GRCm39)	R72G	probably benign	Het
Smarca5	A	C	8: 81,446,344 (GRCm39)	L452W	probably damaging	Het
Synpo2l	G	T	14: 20,716,738 (GRCm39)	Q79K	possibly damaging	Het
Tmem174	T	C	13: 98,773,803 (GRCm39)	E9G	possibly damaging	Het
Tmem270	T	C	5: 134,930,644 (GRCm39)	T206A	probably damaging	Het
Ttn	T	A	2: 76,562,951 (GRCm39)	T28668S	possibly damaging	Het
Vmn1r118	A	T	7: 20,645,817 (GRCm39)	S152R	possibly damaging	Het
Vmn2r25	T	A	6: 123,816,960 (GRCm39)	Q207L	probably damaging	Het
Vmn2r81	T	A	10: 79,129,582 (GRCm39)	S824R	probably damaging	Het
Vps54	G	A	11: 21,258,771 (GRCm39)	V733I	probably benign	Het
Zfp518b	G	T	5: 38,829,601 (GRCm39)	D801E	probably benign	Het
Zgrf1	C	A	3: 127,392,428 (GRCm39)	P1316Q	probably damaging	Het
Zzef1	C	A	11: 72,739,463 (GRCm39)		probably benign	Het

Other mutations in Srcin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01874:Srcin1	APN	11	97,423,924 (GRCm39)	missense	possibly damaging	0.81
IGL03347:Srcin1	APN	11	97,416,170 (GRCm39)	missense	probably damaging	1.00
R1619:Srcin1	UTSW	11	97,416,307 (GRCm39)	missense	probably damaging	1.00
R1678:Srcin1	UTSW	11	97,409,470 (GRCm39)	missense	probably damaging	0.99
R1733:Srcin1	UTSW	11	97,424,327 (GRCm39)	missense	probably benign
R2023:Srcin1	UTSW	11	97,416,872 (GRCm39)	missense	probably benign
R2238:Srcin1	UTSW	11	97,425,645 (GRCm39)	missense	probably benign	0.00
R3983:Srcin1	UTSW	11	97,416,379 (GRCm39)	missense	probably damaging	1.00
R4572:Srcin1	UTSW	11	97,425,760 (GRCm39)	missense	probably damaging	1.00
R4628:Srcin1	UTSW	11	97,439,752 (GRCm39)	missense	probably benign	0.12
R4946:Srcin1	UTSW	11	97,442,768 (GRCm39)	missense	probably damaging	1.00
R5175:Srcin1	UTSW	11	97,464,703 (GRCm39)	missense	probably damaging	0.99
R5424:Srcin1	UTSW	11	97,427,885 (GRCm39)	nonsense	probably null
R5705:Srcin1	UTSW	11	97,439,777 (GRCm39)	missense	probably benign	0.42
R5918:Srcin1	UTSW	11	97,424,323 (GRCm39)	splice site	probably null
R6563:Srcin1	UTSW	11	97,425,600 (GRCm39)	missense	possibly damaging	0.74
R6613:Srcin1	UTSW	11	97,424,653 (GRCm39)	missense	possibly damaging	0.94
R6756:Srcin1	UTSW	11	97,425,836 (GRCm39)	missense	probably damaging	1.00
R6805:Srcin1	UTSW	11	97,442,806 (GRCm39)	critical splice acceptor site	probably null
R7060:Srcin1	UTSW	11	97,464,711 (GRCm39)	missense	probably damaging	0.99
R7271:Srcin1	UTSW	11	97,442,715 (GRCm39)	missense	probably damaging	0.99
R7304:Srcin1	UTSW	11	97,442,519 (GRCm39)	missense	probably benign	0.01
R7469:Srcin1	UTSW	11	97,425,435 (GRCm39)	missense	probably damaging	0.98
R7567:Srcin1	UTSW	11	97,425,551 (GRCm39)	missense	probably damaging	1.00
R7846:Srcin1	UTSW	11	97,416,926 (GRCm39)	nonsense	probably null
R7994:Srcin1	UTSW	11	97,422,742 (GRCm39)	missense	probably damaging	1.00
R8203:Srcin1	UTSW	11	97,457,539 (GRCm39)	missense	probably damaging	1.00
R8377:Srcin1	UTSW	11	97,442,804 (GRCm39)	missense	probably damaging	0.99
R8488:Srcin1	UTSW	11	97,416,686 (GRCm39)	splice site	probably null
R8559:Srcin1	UTSW	11	97,427,975 (GRCm39)	missense	probably damaging	1.00
R8690:Srcin1	UTSW	11	97,414,368 (GRCm39)	missense	probably damaging	1.00
R8794:Srcin1	UTSW	11	97,439,803 (GRCm39)	missense	probably benign	0.00
R8982:Srcin1	UTSW	11	97,426,624 (GRCm39)	missense	probably damaging	1.00
R9061:Srcin1	UTSW	11	97,427,206 (GRCm39)	missense	probably damaging	1.00
R9632:Srcin1	UTSW	11	97,442,648 (GRCm39)	missense	probably benign	0.11
X0024:Srcin1	UTSW	11	97,427,294 (GRCm39)	missense	probably damaging	1.00
Z1176:Srcin1	UTSW	11	97,409,553 (GRCm39)	missense	possibly damaging	0.88
Z1177:Srcin1	UTSW	11	97,417,687 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AAGCCAAGCTCTGAGGATGG -3'
(R):5'- GGCCTCTCTAAGATACAGGGAC -3'

Sequencing Primer
(F):5'- GATGGGGCTCCTTCACCTCTAG -3'
(R):5'- CCTCTCTAAGATACAGGGACAAGTG -3'

Posted On

2022-03-25