Mutagenetix > Incidental Mutations

Incidental Mutation 'R4939:Spidr'

382957

Institutional Source

Beutler Lab

Gene Symbol

Spidr

Ensembl Gene

ENSMUSG00000041974

Gene Name

scaffolding protein involved in DNA repair

Synonyms

2310008H04Rik

MMRRC Submission

042538-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4939 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

15889224-16146851 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 16140746 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 51 (K51*)

Ref Sequence

ENSEMBL: ENSMUSP00000038820 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000040248
AA Change: K51*

SMART Domains

Protein: ENSMUSP00000038820
Gene: ENSMUSG00000041974
AA Change: K51*

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	A	T	4: 86,243,725	Y365F	possibly damaging	Het
Atp2a1	T	C	7: 126,450,116	M585V	probably benign	Het
Brca1	A	G	11: 101,508,050	V1572A	probably benign	Het
C1ql4	A	T	15: 99,087,640	M30K	probably damaging	Het
Ccdc73	A	G	2: 104,992,157		probably null	Het
Cdk6	A	T	5: 3,344,377	D4V	probably null	Het
Celf3	ACAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCA	3: 94,488,230		probably benign	Het
Clic4	T	C	4: 135,223,541	E113G	probably benign	Het
Creld1	C	A	6: 113,488,179	H122Q	probably benign	Het
Cyp4a29	G	A	4: 115,247,676		probably null	Het
Dnaaf3	A	T	7: 4,527,145	S246R	probably damaging	Het
Dnah12	A	T	14: 26,891,524	T3925S	probably damaging	Het
Dnajc21	T	A	15: 10,449,597	D446V	probably damaging	Het
Dock8	A	T	19: 25,122,400	Y629F	probably damaging	Het
E2f8	A	T	7: 48,872,138	N405K	probably benign	Het
Flg	A	G	3: 93,279,847	N202S	probably benign	Het
Glyatl3	A	G	17: 40,910,023		probably null	Het
Gm10696	A	T	3: 94,176,233	Y90*	probably null	Het
Gm38999	A	G	7: 43,428,461	T63A	possibly damaging	Het
Gm4981	T	C	10: 58,235,603	N263S	probably benign	Het
Grap	A	G	11: 61,660,298	Y52C	probably damaging	Het
Haus2	T	A	2: 120,619,036	I187K	probably damaging	Het
Heatr5b	T	C	17: 78,762,260	E1686G	probably benign	Het
Herc2	A	G	7: 56,206,736	D3944G	probably damaging	Het
Hexdc	A	T	11: 121,207,716	M9L	probably benign	Het
Hoxa3	T	C	6: 52,170,676		probably benign	Het
Hspg2	A	T	4: 137,508,031	I126F	probably damaging	Het
Itpr1	T	A	6: 108,440,558	C123*	probably null	Het
Jmjd1c	T	A	10: 67,246,137	N2346K	possibly damaging	Het
Kctd9	A	G	14: 67,729,686	Y37C	probably damaging	Het
Kmt5b	A	C	19: 3,815,245	S747R	possibly damaging	Het
Krt26	T	C	11: 99,334,696	M320V	probably benign	Het
Lama1	T	G	17: 67,737,475	V123G	possibly damaging	Het
Lamc2	T	C	1: 153,126,836	D1103G	probably damaging	Het
Lepr	A	T	4: 101,733,438	K71I	possibly damaging	Het
Llgl1	A	T	11: 60,709,979		probably null	Het
Mcoln2	A	T	3: 146,192,241	H39L	probably benign	Het
Myh11	T	A	16: 14,239,507	T315S	probably benign	Het
Ncapd3	T	C	9: 27,063,869		probably null	Het
Nlrp9b	G	T	7: 20,024,496	V553F	probably damaging	Het
Nubpl	A	G	12: 52,181,095	N129S	probably damaging	Het
Nup214	C	A	2: 31,983,159	T255K	probably benign	Het
Olfr1390	A	G	11: 49,340,549	T6A	probably benign	Het
Olfr1469	T	A	19: 13,410,855	N95K	probably benign	Het
Olfr218	T	C	1: 173,203,463	Y36H	possibly damaging	Het
Olfr325	G	T	11: 58,581,211	M122I	probably damaging	Het
Olfr464	G	T	11: 87,914,124	P261T	probably damaging	Het
Olfr619	T	C	7: 103,604,251	V199A	probably benign	Het
Orc3	G	A	4: 34,593,126	Q256*	probably null	Het
Pbrm1	A	G	14: 31,061,623	M566V	probably damaging	Het
Pde6b	A	G	5: 108,421,497	I357V	probably benign	Het
Pkdrej	A	G	15: 85,820,283	I484T	possibly damaging	Het
Plvap	A	G	8: 71,511,439	V93A	probably benign	Het
Plxna4	T	C	6: 32,165,762	Y1586C	probably damaging	Het
Ppfia4	A	T	1: 134,328,079	L196Q	possibly damaging	Het
Ptpn13	T	G	5: 103,517,469		probably null	Het
Ranbp17	T	C	11: 33,219,223	N997S	probably benign	Het
Rpap2	G	T	5: 107,603,625		probably null	Het
Rrm1	T	C	7: 102,466,924	V683A	probably benign	Het
Ruvbl1	A	G	6: 88,483,039		probably null	Het
Sh3pxd2a	A	G	19: 47,278,404	Y277H	probably damaging	Het
Shank1	C	T	7: 44,326,162	P477S	unknown	Het
Shtn1	T	C	19: 59,022,201	E278G	probably benign	Het
Skap2	T	A	6: 51,922,323	I109F	possibly damaging	Het
Skiv2l2	T	C	13: 112,909,892	D308G	possibly damaging	Het
Slc28a3	A	C	13: 58,558,581	I615M	probably benign	Het
Slc4a11	A	G	2: 130,684,868	L780P	probably damaging	Het
Slc5a4b	T	C	10: 76,081,467	E245G	probably benign	Het
Slfn8	C	T	11: 83,003,285	A843T	probably benign	Het
Sncaip	A	T	18: 52,907,263	Q843L	possibly damaging	Het
Tas2r123	T	C	6: 132,847,845	V235A	probably benign	Het
Tgfbr3	T	C	5: 107,130,469	D757G	probably benign	Het
Tmem132d	A	T	5: 127,796,075	V490D	probably damaging	Het
Top2a	T	A	11: 99,010,092	H557L	probably damaging	Het
Trafd1	A	G	5: 121,375,191	I328T	probably benign	Het
Trappc11	G	A	8: 47,519,665	A291V	probably damaging	Het
Tuba1c	A	G	15: 99,037,954	Y432C	probably damaging	Het
Utp11	T	G	4: 124,683,250	R109S	possibly damaging	Het
Vmn1r159	T	G	7: 22,842,891	T239P	probably damaging	Het
Vwce	A	T	19: 10,645,050	N239Y	probably damaging	Het
Yes1	T	C	5: 32,645,113		probably null	Het
Zfand6	A	C	7: 84,615,822	*224G	probably null	Het
Zfp408	A	T	2: 91,645,105	I668N	probably damaging	Het
Zfp647	TGCACG	TGCACGCACG	15: 76,911,044		probably null	Het
Zfp946	T	C	17: 22,455,437	F391L	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
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'- TGCATAGATTCTACAGAGACAAAGG -3'
(R):5'- TATATCCATGTCAAGTTTCCGAGTC -3'

Sequencing Primer
(F):5'- ACAAAGGAAGGAAACACTAACTTG -3'
(R):5'- TCCGAGTCATTCAAAGACTATGC -3'

Posted On

2016-04-27