Mutagenetix > Incidental Mutation

Incidental Mutation 'R4572:Srcin1'

342214

Institutional Source

Beutler Lab

Gene Symbol

Srcin1

Ensembl Gene

ENSMUSG00000038453

Gene Name

SRC kinase signaling inhibitor 1

Synonyms

p140Cap, P140

MMRRC Submission

041796-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4572 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

97509340-97576186 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 97534934 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 432 (D432E)

Ref Sequence

ENSEMBL: ENSMUSP00000103222 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000107590
AA Change: D433E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103216
Gene: ENSMUSG00000038453
AA Change: D433E

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: D433E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103219
Gene: ENSMUSG00000038453
AA Change: D433E

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: D432E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103222
Gene: ENSMUSG00000038453
AA Change: D432E

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 damaging
Transcript: ENSMUST00000126287
AA Change: D458E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116444
Gene: ENSMUSG00000038453
AA Change: D458E

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (71/71)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,216,548	I747N	probably benign	Het
Adamtsl2	A	G	2: 27,083,256	Y97C	probably damaging	Het
Alox12e	A	G	11: 70,321,181		probably benign	Het
Alpk2	A	T	18: 65,281,004	S2014T	probably damaging	Het
Ankrd36	A	T	11: 5,689,340		probably null	Het
Apobec1	T	C	6: 122,581,397	D133G	probably damaging	Het
Arfgef1	A	T	1: 10,213,141	I181N	probably damaging	Het
C130060K24Rik	A	T	6: 65,454,991	M293L	probably benign	Het
Cilp2	A	G	8: 69,882,410	V646A	probably damaging	Het
Clasrp	A	G	7: 19,584,464		probably null	Het
Cnot2	T	C	10: 116,494,846	T423A	probably benign	Het
Crtap	T	C	9: 114,384,806	D227G	probably benign	Het
Cyp17a1	A	G	19: 46,670,551	F217S	probably damaging	Het
Ddx60	A	G	8: 61,987,421	M1036V	probably damaging	Het
Dnah11	A	T	12: 118,010,125	I2818N	probably benign	Het
Dok6	T	A	18: 89,473,947	I169F	possibly damaging	Het
Duox2	T	A	2: 122,281,726	R1326S	probably benign	Het
Epha10	A	G	4: 124,902,568	T357A	unknown	Het
Ephb2	A	C	4: 136,655,940	F942C	probably damaging	Het
Fscn3	T	A	6: 28,430,635		probably null	Het
Gabrb2	A	G	11: 42,593,917	N267S	possibly damaging	Het
Gabrr3	A	T	16: 59,461,638	Y452F	probably benign	Het
Gen1	A	G	12: 11,242,418	S457P	probably damaging	Het
Gm1993	C	T	X: 25,560,356	R77H	probably damaging	Het
Gm5592	G	A	7: 41,216,159		probably benign	Het
Hmbox1	A	G	14: 64,903,233		probably null	Het
Hus1	A	T	11: 9,007,617		probably null	Het
Ino80	G	A	2: 119,402,358	R1160W	probably damaging	Het
Kalrn	A	T	16: 34,392,042	F27L	probably damaging	Het
Kri1	A	T	9: 21,280,384	F187L	probably damaging	Het
Lekr1	A	T	3: 65,783,915		noncoding transcript	Het
Mapk15	T	C	15: 75,998,750		probably benign	Het
Mrgpre	G	A	7: 143,781,104	L221F	probably damaging	Het
Mrpl50	A	T	4: 49,514,399	S91T	possibly damaging	Het
Muc4	T	C	16: 32,753,802	I1226T	probably benign	Het
Mup15	A	G	4: 61,438,217		probably null	Het
Ncapd3	A	G	9: 27,094,615	D1469G	probably damaging	Het
Nlrp9b	G	A	7: 20,026,681		probably null	Het
Npy6r	A	T	18: 44,275,917	Y135F	probably benign	Het
Olfr862	A	C	9: 19,883,979	C109G	probably benign	Het
Phf14	G	A	6: 12,006,824	R825Q	probably damaging	Het
Pigg	A	G	5: 108,332,885	M379V	probably benign	Het
Plppr3	T	A	10: 79,866,063	Q315L	probably benign	Het
Plxnd1	C	A	6: 115,955,756	C1921F	probably damaging	Het
Ptger4	A	C	15: 5,243,133	S2A	probably benign	Het
Rab4a	A	T	8: 123,834,060	D196V	probably benign	Het
Rbck1	G	A	2: 152,318,733	Q428*	probably null	Het
Rgs14	A	T	13: 55,380,062	N266I	probably damaging	Het
Serpina1c	A	T	12: 103,898,708		probably benign	Het
Sesn3	G	A	9: 14,321,220	R263H	probably benign	Het
Slfn1	A	T	11: 83,121,463	D135V	probably benign	Het
Spata17	T	C	1: 187,193,996	K46E	possibly damaging	Het
Stxbp5	T	C	10: 9,838,144	E217G	probably damaging	Het
Terf2ip	A	G	8: 112,012,017	D179G	probably damaging	Het
Tll1	A	G	8: 64,056,309	F556L	possibly damaging	Het
Tmed4	CTCTTTCT	CTCT	11: 6,274,461		probably null	Het
Trappc9	G	T	15: 72,937,067	Q537K	possibly damaging	Het
Trim30a	G	T	7: 104,411,188	C460*	probably null	Het
Trim35	T	C	14: 66,307,873	Y298H	probably damaging	Het
Ugt3a1	T	A	15: 9,306,393	H209Q	probably benign	Het
Ulk4	T	C	9: 121,192,764	K627R	probably damaging	Het
Wnk1	T	C	6: 119,951,911	T1319A	possibly damaging	Het
Wnt9b	G	A	11: 103,732,155	R141C	probably damaging	Het
Zfp735	A	G	11: 73,689,785	M37V	probably benign	Het
Zmym1	A	T	4: 127,050,835	N186K	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
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
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
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'- ATCTTTGCGGAAGGACTGG -3'
(R):5'- CATCGCACCTAGCATCTAGC -3'

Sequencing Primer
(F):5'- AAGCCATAGCCGTCTCCGTAG -3'
(R):5'- ACGCCTCTCCTATGCTGGG -3'

Posted On

2015-09-24