Mutagenetix > Incidental Mutations

Incidental Mutation 'R0011:Spidr'

98995

Institutional Source

Beutler Lab

Gene Symbol

Spidr

Ensembl Gene

ENSMUSG00000041974

Gene Name

scaffolding protein involved in DNA repair

Synonyms

2310008H04Rik

MMRRC Submission

038306-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0011 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

15889224-16146851 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15966603 bp

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 534 (W534R)

Ref Sequence

ENSEMBL: ENSMUSP00000038820 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000040248
AA Change: W534R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000038820
Gene: ENSMUSG00000041974
AA Change: W534R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229846

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 95.9%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	T	A	7: 131,229,993	L389Q	probably damaging	Het
A930011G23Rik	T	C	5: 99,232,354	Y344C	probably damaging	Het
Alox15	A	G	11: 70,349,596	V253A	possibly damaging	Het
Ank3	A	G	10: 69,979,451		probably benign	Het
Art3	T	A	5: 92,403,612	Y17N	probably damaging	Het
Asic3	C	T	5: 24,417,492		probably benign	Het
Bach2	G	T	4: 32,244,655		probably benign	Het
Brip1	C	A	11: 86,186,998	K201N	possibly damaging	Het
Casc1	T	A	6: 145,179,055	M515L	probably damaging	Het
Ccdc88a	T	C	11: 29,374,364	F6S	probably damaging	Het
Celsr2	A	G	3: 108,413,402	I698T	probably benign	Het
Cenpf	A	G	1: 189,650,706	S2664P	probably benign	Het
Cfap54	A	T	10: 93,065,225	C156S	probably damaging	Het
Cops4	C	A	5: 100,527,981	Q28K	probably benign	Het
Cyb5a	T	A	18: 84,877,822		probably benign	Het
Diaph3	A	T	14: 86,866,408	C847S	probably damaging	Het
Dnah3	T	C	7: 120,019,701	K1648R	probably damaging	Het
Emilin2	C	T	17: 71,273,868	G621E	probably benign	Het
Enpp1	T	A	10: 24,670,002	K228*	probably null	Het
Epg5	T	C	18: 77,948,483	C132R	probably benign	Het
Epha7	G	A	4: 28,962,564	D961N	probably benign	Het
G6pc2	C	A	2: 69,226,565		probably benign	Het
Gm7361	C	T	5: 26,258,878		probably benign	Het
Grin2c	T	C	11: 115,255,750	Y476C	probably damaging	Het
Hnrnpul1	T	G	7: 25,742,915		probably benign	Het
Igf2bp1	T	C	11: 96,005,584	D17G	probably damaging	Het
Insrr	T	C	3: 87,809,616	C688R	possibly damaging	Het
Itgb2l	T	C	16: 96,427,661		probably benign	Het
Kidins220	T	A	12: 24,999,352	V322E	probably damaging	Het
Klk1	C	T	7: 44,229,535	T149I	probably benign	Het
Mbd3l1	A	G	9: 18,484,567		probably benign	Het
Miox	C	T	15: 89,336,274	L189F	possibly damaging	Het
Mrc1	T	C	2: 14,261,337		probably null	Het
Mtr	T	C	13: 12,238,052		probably benign	Het
Ncoa6	TGC	TGCGC	2: 155,408,291		probably null	Het
Npy4r	C	T	14: 34,146,723	V203M	probably damaging	Het
Olfr965	T	A	9: 39,719,627	N133K	probably benign	Het
Pik3r4	C	A	9: 105,644,637	T134K	probably benign	Het
Rdh19	T	A	10: 127,856,911	L149Q	probably damaging	Het
Sema3e	C	T	5: 14,144,011	R85*	probably null	Het
Shtn1	A	G	19: 59,032,218	S191P	possibly damaging	Het
Slc39a11	A	T	11: 113,247,833	F279L	probably benign	Het
Slc4a1	T	C	11: 102,357,110	K353E	possibly damaging	Het
Slc6a18	A	T	13: 73,665,619	M515K	possibly damaging	Het
Snapc4	A	G	2: 26,364,813	I1225T	probably benign	Het
Tmem202	T	A	9: 59,524,801	N81I	probably benign	Het
Tnfrsf1b	T	G	4: 145,222,966	R297S	possibly damaging	Het
Trim55	A	G	3: 19,670,999	T227A	probably benign	Het
Trim58	A	T	11: 58,643,120	T167S	probably benign	Het
Trp53i11	A	T	2: 93,199,353		probably benign	Het
Ttn	T	C	2: 76,810,355	H5356R	probably damaging	Het
Tyrp1	C	T	4: 80,840,793	T301I	probably damaging	Het
Wdr17	A	T	8: 54,672,501	I448K	possibly damaging	Het
Wscd1	T	C	11: 71,788,828	V509A	probably damaging	Het
Zfp251	A	G	15: 76,854,554	V108A	probably benign	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
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
R7818:Spidr	UTSW	16	16114865	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
X0025:Spidr	UTSW	16	15889752	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTCCTGATGGCAGTGTGGTAGATAT -3'
(R):5'- AGTTGCTGCTCCCCTGAGGAA -3'

Sequencing Primer
(F):5'- tttgctctttgcctgcttg -3'
(R):5'- ATTCTCTTCTGGACATTGTGGAAAG -3'

Posted On

2014-01-10