Mutagenetix > Incidental Mutation

Incidental Mutation 'R8507:Spidr'

655665

Institutional Source

Beutler Lab

Gene Symbol

Spidr

Ensembl Gene

ENSMUSG00000041974

Gene Name

scaffolding protein involved in DNA repair

Synonyms

2310008H04Rik

MMRRC Submission

067843-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8507 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15707088-15964715 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15786540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 401 (L401P)

Ref Sequence

ENSEMBL: ENSMUSP00000038820 (fasta)

Gene Model

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

AlphaFold

Q8BGX7

Predicted Effect

probably damaging
Transcript: ENSMUST00000040248
AA Change: L401P

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

SMART Domains

Protein: ENSMUSP00000038820
Gene: ENSMUSG00000041974
AA Change: L401P

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: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	A	G	14: 68,763,773 (GRCm39)	C126R	probably damaging	Het
Agpat5	G	A	8: 18,928,043 (GRCm39)	V203I	possibly damaging	Het
Ankrd12	T	A	17: 66,293,904 (GRCm39)	R510*	probably null	Het
Anxa6	C	T	11: 54,904,696 (GRCm39)	A22T	probably benign	Het
Barx2	A	T	9: 31,770,309 (GRCm39)	L73Q	probably damaging	Het
BC024139	T	C	15: 76,004,333 (GRCm39)	K702R	possibly damaging	Het
Cc2d1a	T	C	8: 84,861,605 (GRCm39)	K739R	probably benign	Het
Cdk12	A	G	11: 98,141,111 (GRCm39)	T1451A	unknown	Het
Chd7	A	G	4: 8,858,675 (GRCm39)	E2367G	probably damaging	Het
Cp	A	G	3: 20,025,193 (GRCm39)	Y384C	probably damaging	Het
Dnah14	T	A	1: 181,468,979 (GRCm39)	W1270R	probably benign	Het
Dyrk2	G	T	10: 118,696,567 (GRCm39)	S230R	probably damaging	Het
Epn3	A	T	11: 94,384,602 (GRCm39)	S290R	probably damaging	Het
Fas	C	T	19: 34,304,626 (GRCm39)	R296C	probably benign	Het
Fmnl1	A	T	11: 103,084,859 (GRCm39)	N659I	unknown	Het
Gas8	T	C	8: 124,257,777 (GRCm39)		probably null	Het
Gpr156	A	G	16: 37,768,598 (GRCm39)	T40A	probably benign	Het
Hey1	G	C	3: 8,729,836 (GRCm39)	A207G	probably benign	Het
Htr3b	C	A	9: 48,876,177 (GRCm39)		probably benign	Het
Itgal	C	T	7: 126,928,607 (GRCm39)	T1044I	probably benign	Het
Itprid2	A	G	2: 79,475,208 (GRCm39)	Q389R	probably benign	Het
Kcnip4	T	G	5: 48,639,997 (GRCm39)	D38A	possibly damaging	Het
Kcnma1	G	T	14: 23,641,706 (GRCm39)	Q216K	probably benign	Het
Kdsr	T	A	1: 106,671,400 (GRCm39)	E203V	probably null	Het
Lrp1b	T	C	2: 41,298,387 (GRCm39)	E999G		Het
Malt1	T	A	18: 65,603,594 (GRCm39)	W577R	probably damaging	Het
Mroh2b	A	C	15: 4,978,572 (GRCm39)	T1373P	probably damaging	Het
Mymk	A	G	2: 26,952,712 (GRCm39)		probably null	Het
Myo1f	T	A	17: 33,816,992 (GRCm39)	H707Q	probably benign	Het
Ncam2	C	A	16: 81,309,867 (GRCm39)	H452Q	possibly damaging	Het
Ndrg4	A	G	8: 96,404,975 (GRCm39)	M1V	probably null	Het
Nps	C	T	7: 134,874,079 (GRCm39)	S83L	probably damaging	Het
Nup155	T	A	15: 8,177,044 (GRCm39)	Y1040*	probably null	Het
Or1j15	T	C	2: 36,459,443 (GRCm39)	Y278H	probably damaging	Het
Or2ak4	C	T	11: 58,648,985 (GRCm39)	Q165*	probably null	Het
Or4f7	T	C	2: 111,645,051 (GRCm39)	T7A	probably benign	Het
Or5h22	C	T	16: 58,895,243 (GRCm39)	V67M	possibly damaging	Het
Pak1ip1	G	A	13: 41,162,770 (GRCm39)	R191Q	probably benign	Het
Pcdh17	G	A	14: 84,683,384 (GRCm39)		probably benign	Het
Pcdhgc5	G	T	18: 37,952,945 (GRCm39)	R73L	probably benign	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Plxnd1	A	T	6: 115,943,866 (GRCm39)	N1144K	probably damaging	Het
Ppp1r1b	G	T	11: 98,246,310 (GRCm39)	E133D	probably damaging	Het
Ptpn13	A	G	5: 103,705,815 (GRCm39)	E1396G	probably damaging	Het
Reps1	T	C	10: 17,970,218 (GRCm39)	S272P	probably damaging	Het
Ric8b	T	C	10: 84,816,039 (GRCm39)	V430A	probably damaging	Het
Septin10	A	T	10: 59,012,825 (GRCm39)	N264K	possibly damaging	Het
Sgms1	A	T	19: 32,137,109 (GRCm39)	F152L	probably benign	Het
Snapc1	C	A	12: 74,011,506 (GRCm39)	F57L	probably damaging	Het
Spn	C	T	7: 126,735,728 (GRCm39)	V260M	probably damaging	Het
Sptan1	G	A	2: 29,916,596 (GRCm39)	A2095T	probably damaging	Het
Tbc1d15	A	G	10: 115,038,407 (GRCm39)		probably null	Het
Thsd7b	T	A	1: 129,605,790 (GRCm39)	F510L	probably benign	Het
Trpm5	T	A	7: 142,632,050 (GRCm39)	I920F	probably damaging	Het
Tspear	C	A	10: 77,710,898 (GRCm39)	H507N	probably benign	Het
Vmn2r108	T	A	17: 20,683,195 (GRCm39)	K670*	probably null	Het
Vmn2r75	A	T	7: 85,797,685 (GRCm39)	C709*	probably null	Het
Wdfy3	G	T	5: 102,020,767 (GRCm39)	S2494R	probably benign	Het
Zfp456	A	T	13: 67,515,108 (GRCm39)	F199L	probably damaging	Het
Zfp830	A	G	11: 82,655,529 (GRCm39)	Q111R	probably benign	Het
Znrf1	G	A	8: 112,263,842 (GRCm39)	A24T	probably damaging	Het

Other mutations in Spidr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00229:Spidr	APN	16	15,713,442 (GRCm39)	missense	probably damaging	1.00
IGL00482:Spidr	APN	16	15,932,833 (GRCm39)	missense	possibly damaging	0.94
IGL01760:Spidr	APN	16	15,730,424 (GRCm39)	missense	possibly damaging	0.71
IGL02142:Spidr	APN	16	15,865,945 (GRCm39)	missense	probably benign	0.25
IGL02392:Spidr	APN	16	15,707,494 (GRCm39)	makesense	probably null
IGL02430:Spidr	APN	16	15,932,774 (GRCm39)	missense	probably damaging	1.00
IGL03110:Spidr	APN	16	15,707,618 (GRCm39)	missense	probably damaging	1.00
R0011:Spidr	UTSW	16	15,784,467 (GRCm39)	missense	probably benign	0.00
R0504:Spidr	UTSW	16	15,957,936 (GRCm39)	missense	possibly damaging	0.73
R0505:Spidr	UTSW	16	15,855,531 (GRCm39)	missense	probably damaging	1.00
R0541:Spidr	UTSW	16	15,733,229 (GRCm39)	missense	probably damaging	1.00
R0675:Spidr	UTSW	16	15,855,498 (GRCm39)	missense	probably damaging	1.00
R0722:Spidr	UTSW	16	15,730,645 (GRCm39)	missense	probably damaging	1.00
R2005:Spidr	UTSW	16	15,865,913 (GRCm39)	missense	probably damaging	1.00
R2133:Spidr	UTSW	16	15,871,137 (GRCm39)	missense	probably benign	0.04
R2249:Spidr	UTSW	16	15,936,787 (GRCm39)	missense	probably damaging	1.00
R2876:Spidr	UTSW	16	15,730,453 (GRCm39)	splice site	probably null
R3087:Spidr	UTSW	16	15,786,483 (GRCm39)	missense	probably damaging	1.00
R3121:Spidr	UTSW	16	15,958,724 (GRCm39)	missense	probably damaging	1.00
R3765:Spidr	UTSW	16	15,786,504 (GRCm39)	missense	probably benign	0.39
R4896:Spidr	UTSW	16	15,936,806 (GRCm39)	missense	possibly damaging	0.70
R4939:Spidr	UTSW	16	15,958,610 (GRCm39)	nonsense	probably null
R5004:Spidr	UTSW	16	15,936,806 (GRCm39)	missense	possibly damaging	0.70
R5042:Spidr	UTSW	16	15,936,767 (GRCm39)	missense	probably benign	0.09
R5736:Spidr	UTSW	16	15,715,162 (GRCm39)	missense	probably damaging	1.00
R5839:Spidr	UTSW	16	15,855,366 (GRCm39)	missense	probably damaging	1.00
R5970:Spidr	UTSW	16	15,932,733 (GRCm39)	missense	probably damaging	1.00
R6084:Spidr	UTSW	16	15,957,888 (GRCm39)	missense	possibly damaging	0.87
R6386:Spidr	UTSW	16	15,786,424 (GRCm39)	missense	probably benign	0.02
R6572:Spidr	UTSW	16	15,730,380 (GRCm39)	splice site	probably null
R7238:Spidr	UTSW	16	15,784,680 (GRCm39)	missense	probably benign	0.10
R7249:Spidr	UTSW	16	15,784,512 (GRCm39)	missense	probably benign	0.00
R7334:Spidr	UTSW	16	15,932,689 (GRCm39)	critical splice donor site	probably null
R7393:Spidr	UTSW	16	15,964,695 (GRCm39)	start gained	probably benign
R7681:Spidr	UTSW	16	15,713,488 (GRCm39)	missense	probably damaging	1.00
R7818:Spidr	UTSW	16	15,932,729 (GRCm39)	missense	probably damaging	1.00
R8247:Spidr	UTSW	16	15,786,390 (GRCm39)	critical splice donor site	probably null
R8472:Spidr	UTSW	16	15,958,591 (GRCm39)	missense	probably benign	0.21
R8854:Spidr	UTSW	16	15,707,630 (GRCm39)	missense	probably damaging	0.99
R9201:Spidr	UTSW	16	15,730,556 (GRCm39)	missense	possibly damaging	0.46
R9211:Spidr	UTSW	16	15,871,319 (GRCm39)	missense	probably benign	0.13
R9216:Spidr	UTSW	16	15,936,814 (GRCm39)	missense	probably benign	0.22
R9272:Spidr	UTSW	16	15,855,544 (GRCm39)	missense	probably damaging	1.00
R9276:Spidr	UTSW	16	15,784,712 (GRCm39)	missense	probably benign	0.00
R9608:Spidr	UTSW	16	15,855,474 (GRCm39)	missense	probably benign	0.30
R9689:Spidr	UTSW	16	15,871,304 (GRCm39)	missense	probably damaging	0.99
R9690:Spidr	UTSW	16	15,958,649 (GRCm39)	missense	probably damaging	1.00
X0025:Spidr	UTSW	16	15,707,616 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCACAGGTCCTTTCAAATACAGG -3'
(R):5'- GGTCTGTTGTTACCCACTCG -3'

Sequencing Primer
(F):5'- CAGGTCCTTTCAAATACAGGTACAAG -3'
(R):5'- ACCCACTCGTTGTTAGGAATG -3'

Posted On

2020-10-20