Mutagenetix > Incidental Mutation

Incidental Mutation 'R1454:Snrpa'

162200

Institutional Source

Beutler Lab

Gene Symbol

Snrpa

Ensembl Gene

ENSMUSG00000061479

Gene Name

small nuclear ribonucleoprotein polypeptide A

Synonyms

Rnu1a1, C430021M15Rik, U1A, U1 snRNP

MMRRC Submission

039509-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R1454 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

26886431-26895696 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26892362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 66 (K66R)

Ref Sequence

ENSEMBL: ENSMUSP00000131897 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080356] [ENSMUST00000108379] [ENSMUST00000122202] [ENSMUST00000126211] [ENSMUST00000141378] [ENSMUST00000163311] [ENSMUST00000179391]

AlphaFold

Q62189

Predicted Effect

probably benign
Transcript: ENSMUST00000080356
AA Change: K66R

PolyPhen 2 Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000079228
Gene: ENSMUSG00000061479
AA Change: K66R

Domain	Start	End	E-Value	Type
RRM	17	91	2.3e-14	SMART
low complexity region	109	120	N/A	INTRINSIC
low complexity region	125	156	N/A	INTRINSIC
low complexity region	162	206	N/A	INTRINSIC
RRM	214	283	6.31e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108379

SMART Domains

Protein: ENSMUSP00000104016
Gene: ENSMUSG00000078786

Domain	Start	End	E-Value	Type
low complexity region	26	42	N/A	INTRINSIC
low complexity region	50	80	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122202
AA Change: K66R

PolyPhen 2 Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113678
Gene: ENSMUSG00000061479
AA Change: K66R

Domain	Start	End	E-Value	Type
RRM	17	91	2.3e-14	SMART
low complexity region	109	120	N/A	INTRINSIC
low complexity region	125	156	N/A	INTRINSIC
low complexity region	162	206	N/A	INTRINSIC
RRM	214	283	6.31e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000126211
AA Change: K66R

PolyPhen 2 Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115335
Gene: ENSMUSG00000061479
AA Change: K66R

Domain	Start	End	E-Value	Type
RRM	17	91	2.3e-14	SMART
low complexity region	109	120	N/A	INTRINSIC
low complexity region	125	156	N/A	INTRINSIC
low complexity region	162	206	N/A	INTRINSIC
Pfam:RRM_1	215	247	3.8e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141378

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148491

Predicted Effect

probably benign
Transcript: ENSMUST00000155931

SMART Domains

Protein: ENSMUSP00000123290
Gene: ENSMUSG00000078786

Domain	Start	End	E-Value	Type
low complexity region	14	44	N/A	INTRINSIC
low complexity region	253	264	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163311
AA Change: K66R

PolyPhen 2 Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000131897
Gene: ENSMUSG00000061479
AA Change: K66R

Domain	Start	End	E-Value	Type
RRM	17	91	2.3e-14	SMART
low complexity region	109	120	N/A	INTRINSIC
low complexity region	125	156	N/A	INTRINSIC
low complexity region	162	206	N/A	INTRINSIC
RRM	214	283	6.31e-12	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206439

Predicted Effect

probably benign
Transcript: ENSMUST00000179391

SMART Domains

Protein: ENSMUSP00000137189
Gene: ENSMUSG00000078786

Domain	Start	End	E-Value	Type
low complexity region	26	42	N/A	INTRINSIC
low complexity region	50	80	N/A	INTRINSIC

Meta Mutation Damage Score

0.1930

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.2%
20x: 89.2%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	A	G	16: 85,666,881 (GRCm39)	V537A	possibly damaging	Het
Adcy10	A	T	1: 165,342,949 (GRCm39)	I272F	possibly damaging	Het
Adcy6	A	G	15: 98,502,609 (GRCm39)	S2P	probably damaging	Het
Agap1	A	G	1: 89,765,528 (GRCm39)		probably null	Het
Aldh3a2	A	G	11: 61,155,928 (GRCm39)	V116A	probably benign	Het
Ankdd1b	A	T	13: 96,569,913 (GRCm39)		probably null	Het
Antxrl	G	A	14: 33,782,906 (GRCm39)	V233I	probably damaging	Het
Atp8b5	A	G	4: 43,302,590 (GRCm39)	I38V	probably benign	Het
Atxn7l2	A	G	3: 108,115,748 (GRCm39)		probably benign	Het
Bfsp2	A	T	9: 103,357,424 (GRCm39)	M1K	probably null	Het
Camsap3	T	A	8: 3,653,968 (GRCm39)	I520N	possibly damaging	Het
Cenpc1	C	T	5: 86,161,369 (GRCm39)	V854I	possibly damaging	Het
Csnk2a1	T	C	2: 152,099,347 (GRCm39)	L88S	probably damaging	Het
Dcaf17	A	G	2: 70,903,517 (GRCm39)	N171D	probably damaging	Het
Dctn1	G	C	6: 83,174,490 (GRCm39)	A1077P	possibly damaging	Het
Dock1	T	C	7: 134,453,338 (GRCm39)		probably benign	Het
Egfr	A	T	11: 16,839,920 (GRCm39)	I645L	probably benign	Het
Gdpd1	T	G	11: 86,950,335 (GRCm39)	K79N	possibly damaging	Het
Ggt5	A	T	10: 75,445,742 (GRCm39)	L432F	probably benign	Het
Gm11060	A	G	2: 104,924,097 (GRCm39)	T22A	unknown	Het
Gpr132	G	A	12: 112,815,860 (GRCm39)	T322I	possibly damaging	Het
Grin1	G	A	2: 25,182,442 (GRCm39)	R940*	probably null	Het
Hip1	T	C	5: 135,467,486 (GRCm39)	T316A	probably benign	Het
Hnrnpm	A	G	17: 33,885,462 (GRCm39)		probably benign	Het
Hsd3b5	G	A	3: 98,526,846 (GRCm39)	T200I	probably benign	Het
Hspa9	A	T	18: 35,071,659 (GRCm39)	L647H	probably damaging	Het
Itgad	T	C	7: 127,791,309 (GRCm39)	I727T	probably benign	Het
Kcnma1	T	C	14: 23,513,268 (GRCm39)	D522G	probably damaging	Het
Lipf	C	T	19: 33,948,132 (GRCm39)		probably benign	Het
Ly6i	T	C	15: 74,854,904 (GRCm39)	D2G	possibly damaging	Het
Mast1	G	A	8: 85,647,264 (GRCm39)	P631L	probably damaging	Het
Mmp1b	G	C	9: 7,386,693 (GRCm39)	L144V	probably damaging	Het
Msh6	A	G	17: 88,292,186 (GRCm39)	S314G	probably benign	Het
Myo5c	G	A	9: 75,170,348 (GRCm39)	V493I	possibly damaging	Het
Nefm	A	G	14: 68,358,828 (GRCm39)	L402P	probably damaging	Het
Nrxn2	T	C	19: 6,531,476 (GRCm39)	F697S	probably damaging	Het
Or13c7b	A	T	4: 43,820,639 (GRCm39)	C241S	probably damaging	Het
Pex13	A	G	11: 23,599,422 (GRCm39)	I363T	probably benign	Het
Plcb3	T	C	19: 6,932,414 (GRCm39)	R1082G	possibly damaging	Het
Psg28	A	T	7: 18,161,889 (GRCm39)	S205T	possibly damaging	Het
Pxt1	C	A	17: 29,153,756 (GRCm39)	V26L	possibly damaging	Het
Ripk2	G	A	4: 16,163,239 (GRCm39)	T53M	probably damaging	Het
Slc5a9	A	G	4: 111,741,161 (GRCm39)	V495A	probably benign	Het
Srgap1	T	A	10: 121,732,643 (GRCm39)	E145V	probably damaging	Het
Suz12	A	G	11: 79,922,939 (GRCm39)	T694A	probably benign	Het
Tatdn2	T	A	6: 113,681,288 (GRCm39)	D440E	probably benign	Het
Tbc1d21	A	G	9: 58,270,096 (GRCm39)		probably null	Het
Tbc1d31	T	A	15: 57,815,034 (GRCm39)	Y570*	probably null	Het
Tbc1d32	A	T	10: 56,053,575 (GRCm39)		probably benign	Het
Tdrd5	G	C	1: 156,087,406 (GRCm39)	Q839E	probably benign	Het
Tecpr2	A	G	12: 110,935,387 (GRCm39)	N1402S	probably benign	Het
Thbs1	A	G	2: 117,953,153 (GRCm39)	D921G	probably damaging	Het
Tll1	A	G	8: 64,491,524 (GRCm39)	V803A	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Trpm4	T	C	7: 44,966,480 (GRCm39)	E461G	probably damaging	Het
Zp3	T	A	5: 136,013,042 (GRCm39)	I152N	probably damaging	Het

Other mutations in Snrpa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01622:Snrpa	APN	7	26,892,395 (GRCm39)	missense	probably benign	0.18
IGL01623:Snrpa	APN	7	26,892,395 (GRCm39)	missense	probably benign	0.18
IGL02562:Snrpa	APN	7	26,891,123 (GRCm39)	missense	probably damaging	0.98
IGL03077:Snrpa	APN	7	26,891,186 (GRCm39)	missense	probably benign	0.00
lowly	UTSW	7	26,892,371 (GRCm39)	missense	possibly damaging	0.59
R1779:Snrpa	UTSW	7	26,891,174 (GRCm39)	missense	probably benign	0.02
R4238:Snrpa	UTSW	7	26,892,293 (GRCm39)	critical splice donor site	probably null
R4601:Snrpa	UTSW	7	26,894,958 (GRCm39)	start codon destroyed	probably null	0.04
R6986:Snrpa	UTSW	7	26,892,389 (GRCm39)	missense	probably damaging	0.98
R7114:Snrpa	UTSW	7	26,891,174 (GRCm39)	missense	probably benign
R7529:Snrpa	UTSW	7	26,888,878 (GRCm39)	missense	probably benign	0.03
R7756:Snrpa	UTSW	7	26,892,371 (GRCm39)	missense	possibly damaging	0.59
R7758:Snrpa	UTSW	7	26,892,371 (GRCm39)	missense	possibly damaging	0.59
R8126:Snrpa	UTSW	7	26,892,373 (GRCm39)	missense	possibly damaging	0.46
R8380:Snrpa	UTSW	7	26,886,713 (GRCm39)	missense	possibly damaging	0.71
R8532:Snrpa	UTSW	7	26,891,027 (GRCm39)	critical splice donor site	probably null
R8795:Snrpa	UTSW	7	26,891,034 (GRCm39)	missense	possibly damaging	0.70
R9281:Snrpa	UTSW	7	26,891,051 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTGCTGCTCAGAATCCGTTCTTC -3'
(R):5'- TCCAGCCATTTGTCACAGTGTGTC -3'

Sequencing Primer
(F):5'- atcctcctgcctcagcc -3'
(R):5'- GTCTTGTCTTCCCTAAATGCAGAG -3'

Posted On

2014-03-14