Mutagenetix > Incidental Mutation

Incidental Mutation 'R6256:Xrra1'

506115

Institutional Source

Beutler Lab

Gene Symbol

Xrra1

Ensembl Gene

ENSMUSG00000035211

Gene Name

X-ray radiation resistance associated 1

Synonyms

MMRRC Submission

044373-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R6256 (G1)

Quality Score

170.009

Status

Validated

Chromosome

Chromosomal Location

99859116-99917822 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 99914464 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 553 (S553R)

Ref Sequence

ENSEMBL: ENSMUSP00000035929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036155]

AlphaFold

Q3U3V8

Predicted Effect

probably damaging
Transcript: ENSMUST00000036155
AA Change: S553R

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

SMART Domains

Protein: ENSMUSP00000035929
Gene: ENSMUSG00000035211
AA Change: S553R

Domain	Start	End	E-Value	Type
low complexity region	41	52	N/A	INTRINSIC
Blast:LRR	144	168	4e-6	BLAST
LRR	191	214	2.02e-1	SMART
LRR	232	253	1.67e2	SMART
LRR	257	278	6.41e1	SMART
LRR	371	398	4.09e1	SMART
low complexity region	748	756	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208449

Meta Mutation Damage Score

0.1166

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 72,451,428	Q361L	probably damaging	Het
Abca7	A	G	10: 80,002,622	T577A	probably damaging	Het
Acad12	A	T	5: 121,614,086	V54E	probably benign	Het
Ago4	A	G	4: 126,520,226	Y91H	probably damaging	Het
Akr1b10	T	C	6: 34,387,688	V28A	probably damaging	Het
Ccdc33	T	A	9: 58,101,918		probably null	Het
Ccdc7a	T	C	8: 128,935,593		probably null	Het
Ces1f	A	T	8: 93,265,794	V343E	probably damaging	Het
Cftr	T	C	6: 18,274,661	L896P	probably damaging	Het
Csmd3	G	A	15: 47,669,729	P2375S	probably damaging	Het
Dnajb14	G	C	3: 137,908,362	A345P	probably damaging	Het
Dnajb14	C	T	3: 137,908,363	A345V	probably damaging	Het
Dnase1	G	A	16: 4,037,621	R24K	probably benign	Het
Dnmbp	C	T	19: 43,852,281	V560M	probably damaging	Het
Dopey2	T	A	16: 93,807,214	I1981N	possibly damaging	Het
Eif3a	A	C	19: 60,771,026	S770A	possibly damaging	Het
Fbxl7	A	T	15: 26,553,002	C60S	probably benign	Het
Fras1	A	T	5: 96,733,843	D2478V	possibly damaging	Het
Hrnr	A	G	3: 93,322,611	D52G	probably damaging	Het
Jmjd1c	T	A	10: 67,220,408	L823M	probably damaging	Het
Kdm1a	G	T	4: 136,568,600	C172*	probably null	Het
Kdm6b	C	T	11: 69,406,729	E295K	probably damaging	Het
Mepe	A	T	5: 104,337,074	M27L	probably benign	Het
Mogat2	A	T	7: 99,219,895	H305Q	probably damaging	Het
Mst1r	T	A	9: 107,917,266	Y1215N	probably damaging	Het
Muc5ac	A	T	7: 141,789,795	H48L	possibly damaging	Het
Myo7b	T	C	18: 31,983,695	D953G	probably damaging	Het
Ocel1	T	C	8: 71,371,828		probably benign	Het
Pcdhb6	A	G	18: 37,335,925	D633G	probably damaging	Het
Ppm1l	A	G	3: 69,497,897	I176V	probably benign	Het
Sall3	C	T	18: 80,969,861	R1120H	possibly damaging	Het
Sbf1	G	A	15: 89,300,867	P1018S	probably benign	Het
Setbp1	T	C	18: 78,857,257	Y1065C	probably damaging	Het
Slc25a2	T	C	18: 37,637,723		probably null	Het
Slc4a2	C	A	5: 24,435,890	T729K	probably damaging	Het
Sptlc2	T	C	12: 87,355,531	E207G	probably damaging	Het
Sult6b1	A	T	17: 78,906,914	F27I	probably benign	Het
Syf2	A	T	4: 134,934,578	K84N	probably damaging	Het
Tmem209	A	T	6: 30,497,167	N183K	probably benign	Het
Tmem232	G	T	17: 65,478,402	Q188K	possibly damaging	Het
Tomm70a	A	T	16: 57,152,692	T598S	probably benign	Het
Ttll13	A	G	7: 80,258,304	T556A	probably benign	Het
Vmn2r120	A	T	17: 57,524,700	L363*	probably null	Het
Xpo6	G	T	7: 126,108,619	Q872K	probably damaging	Het
Zfy1	A	T	Y: 738,765	V147E	unknown	Homo
Zfy2	T	C	Y: 2,116,267	I258V	probably benign	Homo

Other mutations in Xrra1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01782:Xrra1	APN	7	99875194	missense	possibly damaging	0.76
IGL01938:Xrra1	APN	7	99879469	critical splice donor site	probably null
IGL02064:Xrra1	APN	7	99914204	missense	probably damaging	1.00
IGL02286:Xrra1	APN	7	99914227	missense	possibly damaging	0.62
IGL02415:Xrra1	APN	7	99915943	missense	probably benign
R0332:Xrra1	UTSW	7	99876242	missense	probably damaging	1.00
R0465:Xrra1	UTSW	7	99879371	missense	probably benign	0.00
R0533:Xrra1	UTSW	7	99875145	splice site	probably null
R0601:Xrra1	UTSW	7	99910968	missense	possibly damaging	0.95
R1539:Xrra1	UTSW	7	99871357	missense	probably damaging	1.00
R1672:Xrra1	UTSW	7	99898440	missense	probably benign	0.00
R1687:Xrra1	UTSW	7	99876244	missense	probably damaging	1.00
R1962:Xrra1	UTSW	7	99911020	missense	probably damaging	1.00
R2504:Xrra1	UTSW	7	99897596	missense	probably damaging	1.00
R4765:Xrra1	UTSW	7	99906568	missense	probably benign	0.19
R4967:Xrra1	UTSW	7	99906523	missense	probably damaging	0.99
R5213:Xrra1	UTSW	7	99898483	missense	possibly damaging	0.47
R5663:Xrra1	UTSW	7	99886043	missense	probably damaging	1.00
R5986:Xrra1	UTSW	7	99876255	missense	probably benign	0.40
R6269:Xrra1	UTSW	7	99917472	missense	probably damaging	1.00
R7234:Xrra1	UTSW	7	99914249	missense	possibly damaging	0.49
R7316:Xrra1	UTSW	7	99876216	critical splice acceptor site	probably null
R7655:Xrra1	UTSW	7	99910982	missense	probably benign	0.10
R7656:Xrra1	UTSW	7	99910982	missense	probably benign	0.10
R8688:Xrra1	UTSW	7	99906545	missense	probably damaging	1.00
R8788:Xrra1	UTSW	7	99906554	missense	probably benign	0.02
R9016:Xrra1	UTSW	7	99876255	missense	probably benign	0.11
R9196:Xrra1	UTSW	7	99914492	critical splice donor site	probably null
R9233:Xrra1	UTSW	7	99867367	missense	probably benign
R9545:Xrra1	UTSW	7	99886127	missense	possibly damaging	0.46
R9641:Xrra1	UTSW	7	99911881	missense	probably benign	0.05
R9742:Xrra1	UTSW	7	99914453	missense	probably benign	0.40
X0017:Xrra1	UTSW	7	99916100	missense	probably damaging	1.00
X0021:Xrra1	UTSW	7	99898486	missense	possibly damaging	0.63

Predicted Primers

PCR Primer
(F):5'- CACTGAAGACACTTCTCACGAG -3'
(R):5'- TGCTGCCTATGTATGCCACAG -3'

Sequencing Primer
(F):5'- GACACTTCTCACGAGGCACTG -3'
(R):5'- ATGCCACAGGACATTGTGTC -3'

Posted On

2018-02-28