Mutagenetix > Incidental Mutation

Incidental Mutation 'R7818:Spidr'

601699

Institutional Source

Beutler Lab

Gene Symbol

Spidr

Ensembl Gene

ENSMUSG00000041974

Gene Name

scaffolding protein involved in DNA repair

Synonyms

2310008H04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7818 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15889224-16146851 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16114865 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 184 (S184G)

Ref Sequence

ENSEMBL: ENSMUSP00000038820 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040248]

AlphaFold

Q8BGX7

Predicted Effect

probably damaging
Transcript: ENSMUST00000040248
AA Change: S184G

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

SMART Domains

Protein: ENSMUSP00000038820
Gene: ENSMUSG00000041974
AA Change: S184G

Domain	Start	End	E-Value	Type
Pfam:DUF4502	11	390	1.8e-177	PFAM
low complexity region	499	508	N/A	INTRINSIC
Pfam:DUF4503	540	921	2.2e-179	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

99% (88/89)

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	T	A	9: 46,304,221	R342S	probably benign	Het
Aatk	C	T	11: 120,021,455	V55I	probably benign	Het
Abhd10	T	A	16: 45,737,553	I128L	probably benign	Het
Abraxas1	T	A	5: 100,806,310	M325L	probably benign	Het
Adgrb2	C	A	4: 130,014,560	L1087I	probably damaging	Het
Adgrb2	C	T	4: 130,014,969	P1124S	possibly damaging	Het
Akap9	T	A	5: 4,013,875	Y1741*	probably null	Het
Ap1g2	A	T	14: 55,099,724	V718D	probably benign	Het
Asph	A	T	4: 9,475,015	M637K	probably damaging	Het
Atp2c1	T	C	9: 105,414,757	I869V	probably benign	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Cacna1e	T	C	1: 154,398,406	D2251G	probably damaging	Het
Camk2b	A	G	11: 5,977,812	S413P	probably benign	Het
Casz1	G	A	4: 148,946,076	C1184Y	probably damaging	Het
Cbr4	G	A	8: 61,487,942	V32I	probably benign	Het
Ccdc166	A	G	15: 75,981,015	S368P	possibly damaging	Het
Ccdc170	A	G	10: 4,549,603	N508S	probably benign	Het
Ccdc187	A	G	2: 26,276,174	S748P	possibly damaging	Het
Cdca8	A	T	4: 124,926,663		probably null	Het
Cep120	T	C	18: 53,723,103	D414G	probably benign	Het
Dcp1a	G	T	14: 30,479,721	A34S	probably damaging	Het
Ddit3	C	T	10: 127,295,793	T70I	probably benign	Het
Dlg2	C	G	7: 91,940,017	A313G	probably damaging	Het
Dnah9	A	T	11: 66,025,211	V2305D	possibly damaging	Het
Dock1	T	A	7: 134,763,865	D427E	probably damaging	Het
Dolpp1	T	C	2: 30,396,491	L141P	probably benign	Het
Dsc2	A	T	18: 20,050,132	D76E	probably damaging	Het
Dusp7	C	A	9: 106,369,130	N111K	probably benign	Het
Fam193a	A	G	5: 34,465,653	E1195G	possibly damaging	Het
Fig4	A	G	10: 41,263,166	L347P	probably damaging	Het
Frem1	T	C	4: 83,014,008	E152G	probably damaging	Het
Galnt2	G	T	8: 124,329,788	D234Y	probably damaging	Het
Hist1h1d	C	T	13: 23,554,991		probably benign	Het
Igkv4-59	T	C	6: 69,438,491	T27A	possibly damaging	Het
Ihh	T	C	1: 74,946,645	D227G	possibly damaging	Het
Il1rap	T	A	16: 26,698,847	C266S	probably damaging	Het
Iqcf4	A	T	9: 106,570,539	L57*	probably null	Het
Kif2b	A	G	11: 91,576,126	S444P	probably damaging	Het
Lmf1	T	G	17: 25,662,591	I538S	probably benign	Het
Mical2	A	G	7: 112,345,307	Y948C	probably damaging	Het
Mr1	G	A	1: 155,130,636	Q322*	probably null	Het
Mroh2a	T	C	1: 88,234,612		probably null	Het
Mup6	A	G	4: 60,004,884	T100A	probably benign	Het
Mybpc1	T	A	10: 88,558,667	D266V	probably damaging	Het
Myocos	T	C	1: 162,647,494	N48S	unknown	Het
Naf1	G	A	8: 66,889,376	G551E	probably damaging	Het
Nrarp	A	G	2: 25,181,238	N43S	possibly damaging	Het
Olfr1253	A	G	2: 89,751,944	S295P	possibly damaging	Het
Olfr19	A	C	16: 16,673,573	M136R	probably damaging	Het
Olfr472	G	A	7: 107,903,023	C102Y	probably benign	Het
Olfr832	T	A	9: 18,945,009	Y120*	probably null	Het
Olfr983	T	A	9: 40,092,712	M85L	probably damaging	Het
Padi3	T	A	4: 140,798,142	T177S	possibly damaging	Het
Pde3b	A	G	7: 114,491,440	M305V	probably damaging	Het
Pde6a	T	A	18: 61,281,509		probably null	Het
Plscr4	C	T	9: 92,490,790	R322*	probably null	Het
Prph	A	G	15: 99,057,872	T446A	probably damaging	Het
Pwwp2b	T	C	7: 139,255,324	V227A	probably benign	Het
Rev3l	T	C	10: 39,823,902	I1465T	possibly damaging	Het
Rin1	A	G	19: 5,052,191	S243G	probably benign	Het
Ripor3	A	T	2: 167,989,426	I485N	probably benign	Het
Rnpc3	G	T	3: 113,629,951	P35Q	probably damaging	Het
Sbpl	G	T	17: 23,953,262	Q228K	unknown	Het
Scn11a	A	C	9: 119,784,111	N804K	probably damaging	Het
Selenoo	A	G	15: 89,096,816	T453A	probably damaging	Het
Sez6	C	T	11: 77,976,902	P882S	probably damaging	Het
Skint5	C	T	4: 113,942,726	R82H	possibly damaging	Het
Slc18a2	A	C	19: 59,263,161	T115P	probably benign	Het
Slc1a2	A	G	2: 102,743,956	D237G	probably benign	Het
Stag3	A	T	5: 138,301,443	Q872L	probably benign	Het
Suds3	T	C	5: 117,115,749		probably benign	Het
Sv2c	T	A	13: 95,986,820	K382*	probably null	Het
Taf2	T	C	15: 55,065,930	I77V	probably benign	Het
Tcof1	G	C	18: 60,829,051	A702G	possibly damaging	Het
Tdrd3	G	T	14: 87,472,200	C100F	probably damaging	Het
Tek	T	A	4: 94,827,716	H458Q	possibly damaging	Het
Tes	C	A	6: 17,099,744	P246Q	probably damaging	Het
Tgif1	A	T	17: 70,849,608		probably null	Het
Tlr11	A	T	14: 50,361,828	N424Y	probably damaging	Het
Tmc8	A	T	11: 117,792,127	N626I	probably damaging	Het
Tmem132c	T	A	5: 127,564,088	*1108K	probably null	Het
Tnks	A	T	8: 34,873,028	Y479N	probably benign	Het
Trip12	C	T	1: 84,760,806	G776D	probably damaging	Het
Tssk1	A	G	16: 17,894,447	E32G	probably benign	Het
Ube2o	T	C	11: 116,543,910	D575G	probably damaging	Het
Uckl1	A	T	2: 181,574,667	M16K	probably damaging	Het
Zfp948	A	T	17: 21,587,723	E392D	probably benign	Het
Zmynd8	G	A	2: 165,842,831	T167I	probably damaging	Het

Other mutations in Spidr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Spidr	APN	16	15895578	missense	probably damaging	1.00
IGL00482:Spidr	APN	16	16114969	missense	possibly damaging	0.94
IGL01760:Spidr	APN	16	15912560	missense	possibly damaging	0.71
IGL02142:Spidr	APN	16	16048081	missense	probably benign	0.25
IGL02392:Spidr	APN	16	15889630	makesense	probably null
IGL02430:Spidr	APN	16	16114910	missense	probably damaging	1.00
IGL03110:Spidr	APN	16	15889754	missense	probably damaging	1.00
R0011:Spidr	UTSW	16	15966603	missense	probably benign	0.00
R0504:Spidr	UTSW	16	16140072	missense	possibly damaging	0.73
R0505:Spidr	UTSW	16	16037667	missense	probably damaging	1.00
R0541:Spidr	UTSW	16	15915365	missense	probably damaging	1.00
R0675:Spidr	UTSW	16	16037634	missense	probably damaging	1.00
R0722:Spidr	UTSW	16	15912781	missense	probably damaging	1.00
R2005:Spidr	UTSW	16	16048049	missense	probably damaging	1.00
R2133:Spidr	UTSW	16	16053273	missense	probably benign	0.04
R2249:Spidr	UTSW	16	16118923	missense	probably damaging	1.00
R2876:Spidr	UTSW	16	15912589	splice site	probably null
R3087:Spidr	UTSW	16	15968619	missense	probably damaging	1.00
R3121:Spidr	UTSW	16	16140860	missense	probably damaging	1.00
R3765:Spidr	UTSW	16	15968640	missense	probably benign	0.39
R4896:Spidr	UTSW	16	16118942	missense	possibly damaging	0.70
R4939:Spidr	UTSW	16	16140746	nonsense	probably null
R5004:Spidr	UTSW	16	16118942	missense	possibly damaging	0.70
R5042:Spidr	UTSW	16	16118903	missense	probably benign	0.09
R5736:Spidr	UTSW	16	15897298	missense	probably damaging	1.00
R5839:Spidr	UTSW	16	16037502	missense	probably damaging	1.00
R5970:Spidr	UTSW	16	16114869	missense	probably damaging	1.00
R6084:Spidr	UTSW	16	16140024	missense	possibly damaging	0.87
R6386:Spidr	UTSW	16	15968560	missense	probably benign	0.02
R6572:Spidr	UTSW	16	15912516	splice site	probably null
R7238:Spidr	UTSW	16	15966816	missense	probably benign	0.10
R7249:Spidr	UTSW	16	15966648	missense	probably benign	0.00
R7334:Spidr	UTSW	16	16114825	critical splice donor site	probably null
R7393:Spidr	UTSW	16	16146831	start gained	probably benign
R7681:Spidr	UTSW	16	15895624	missense	probably damaging	1.00
R8247:Spidr	UTSW	16	15968526	critical splice donor site	probably null
R8472:Spidr	UTSW	16	16140727	missense	probably benign	0.21
R8507:Spidr	UTSW	16	15968676	missense	probably damaging	1.00
R8854:Spidr	UTSW	16	15889766	missense	probably damaging	0.99
R9201:Spidr	UTSW	16	15912692	missense	possibly damaging	0.46
R9211:Spidr	UTSW	16	16053455	missense	probably benign	0.13
R9216:Spidr	UTSW	16	16118950	missense	probably benign	0.22
R9272:Spidr	UTSW	16	16037680	missense	probably damaging	1.00
R9276:Spidr	UTSW	16	15966848	missense	probably benign	0.00
R9608:Spidr	UTSW	16	16037610	missense	probably benign	0.30
R9689:Spidr	UTSW	16	16053440	missense	probably damaging	0.99
R9690:Spidr	UTSW	16	16140785	missense	probably damaging	1.00
X0025:Spidr	UTSW	16	15889752	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCAGATTGATTTCCAGAGTGGTTG -3'
(R):5'- GCACATCAGCCACTGAGAATATG -3'

Sequencing Primer
(F):5'- GTGCCAGTTTGTGATTGTACCCAC -3'
(R):5'- GACTGGGAGGTTAACAGT -3'

Posted On

2019-12-03