Mutagenetix > Incidental Mutation

Incidental Mutation 'R7758:Snrpa'

597673

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

045814-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R7758 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26886431-26895696 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26892371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 63 (V63A)

Ref Sequence

ENSEMBL: ENSMUSP00000079228 (fasta)

Gene Model

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

AlphaFold

Q62189

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080356
AA Change: V63A

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000079228
Gene: ENSMUSG00000061479
AA Change: V63A

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

possibly damaging
Transcript: ENSMUST00000122202
AA Change: V63A

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113678
Gene: ENSMUSG00000061479
AA Change: V63A

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

possibly damaging
Transcript: ENSMUST00000126211
AA Change: V63A

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000115335
Gene: ENSMUSG00000061479
AA Change: V63A

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

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

possibly damaging
Transcript: ENSMUST00000163311
AA Change: V63A

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131897
Gene: ENSMUSG00000061479
AA Change: V63A

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: 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

0.8801

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (48/50)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,921,816 (GRCm39)	D1124G	probably damaging	Het
Actr10	A	G	12: 70,989,100 (GRCm39)	H73R	probably damaging	Het
Ak9	G	T	10: 41,223,128 (GRCm39)	A424S		Het
Alkbh5	G	A	11: 60,429,903 (GRCm39)	V219M	probably damaging	Het
Ankrd60	T	C	2: 173,410,562 (GRCm39)	*319W	probably null	Het
Bfar	T	C	16: 13,519,985 (GRCm39)	F406S	possibly damaging	Het
Brd4	A	G	17: 32,417,956 (GRCm39)	I1157T	unknown	Het
Card6	G	A	15: 5,129,378 (GRCm39)	Q673*	probably null	Het
Cdyl	T	A	13: 36,056,624 (GRCm39)	Y585N	probably damaging	Het
Cep192	A	C	18: 67,989,384 (GRCm39)	I1844L	possibly damaging	Het
Colec11	A	C	12: 28,645,241 (GRCm39)		probably null	Het
Crh	T	A	3: 19,748,453 (GRCm39)	Y63F	probably damaging	Het
Dmbt1	C	T	7: 130,722,926 (GRCm39)	H1946Y	unknown	Het
Dock4	C	T	12: 40,760,878 (GRCm39)	T522I	probably benign	Het
Fstl4	C	A	11: 53,059,123 (GRCm39)	D527E	possibly damaging	Het
Gm17019	A	G	5: 15,079,300 (GRCm39)	*256Q	probably null	Het
Gm5460	A	T	14: 33,757,114 (GRCm39)	T64S	probably benign	Het
H3c13	A	G	3: 96,176,203 (GRCm39)	K65R	possibly damaging	Het
Hoxa9	A	T	6: 52,202,542 (GRCm39)	N181K	probably benign	Het
Ift81	A	T	5: 122,689,088 (GRCm39)	L676H	probably damaging	Het
Klhl35	C	T	7: 99,122,425 (GRCm39)	T87I	unknown	Het
Kmt2e	A	G	5: 23,701,068 (GRCm39)	T761A	possibly damaging	Het
Lca5l	C	T	16: 95,980,037 (GRCm39)	R36H	probably benign	Het
Lin7c	T	A	2: 109,726,717 (GRCm39)	I122K	probably damaging	Het
Malt1	A	G	18: 65,606,190 (GRCm39)	I622V	probably benign	Het
Megf8	T	C	7: 25,041,850 (GRCm39)		probably null	Het
Morc2b	A	G	17: 33,355,981 (GRCm39)	V597A	probably damaging	Het
Or10d4	T	C	9: 39,580,371 (GRCm39)	M6T	probably benign	Het
Or4c120	T	A	2: 89,001,485 (GRCm39)	I24L	probably benign	Het
Or8g2	T	G	9: 39,821,621 (GRCm39)	I174S	possibly damaging	Het
Pdlim1	G	A	19: 40,231,986 (GRCm39)	P131S	probably benign	Het
Plekhh1	T	C	12: 79,117,578 (GRCm39)	I858T	probably benign	Het
Pls1	T	C	9: 95,658,897 (GRCm39)	N197S	probably benign	Het
Pnma8a	A	T	7: 16,695,224 (GRCm39)	T360S	probably benign	Het
Pon1	A	T	6: 5,168,344 (GRCm39)	D354E	probably benign	Het
Prss43	G	A	9: 110,658,459 (GRCm39)	G253E	possibly damaging	Het
Rbp3	G	A	14: 33,676,732 (GRCm39)	V227M	probably benign	Het
Slc22a15	A	G	3: 101,805,251 (GRCm39)		probably null	Het
Slc7a11	A	G	3: 50,326,809 (GRCm39)	I484T	probably benign	Het
Sphk1	A	G	11: 116,427,063 (GRCm39)	R340G	possibly damaging	Het
Strc	T	C	2: 121,201,427 (GRCm39)	E1259G	probably benign	Het
Suds3	T	G	5: 117,253,802 (GRCm39)	D26A	unknown	Het
Taok3	A	G	5: 117,388,972 (GRCm39)	E459G	probably damaging	Het
Unc13b	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,312 (GRCm39)		probably benign	Het
Unc13b	AGCCAG	AGCCAGCGCCAG	4: 43,177,344 (GRCm39)		probably benign	Het
Vmn1r201	A	G	13: 22,658,989 (GRCm39)	T68A	not run	Het
Wdr59	T	A	8: 112,207,117 (GRCm39)	I534F		Het
Ylpm1	A	G	12: 85,061,796 (GRCm39)	I566V	unknown	Het
Zbtb4	A	G	11: 69,669,368 (GRCm39)	E697G	probably benign	Het
Zcchc14	T	C	8: 122,331,428 (GRCm39)	K645R	unknown	Het
Zfp704	C	T	3: 9,509,282 (GRCm39)	V388M	possibly damaging	Het
Zfp994	T	C	17: 22,419,828 (GRCm39)	T374A	possibly 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
R1454:Snrpa	UTSW	7	26,892,362 (GRCm39)	missense	probably benign	0.34
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
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'- CCCGTATAAGGAACACAGGATG -3'
(R):5'- CACCTCTGAGGATAGTGCAAGTAC -3'

Sequencing Primer
(F):5'- TAGCATCCTTAGGGACCAGCATAG -3'
(R):5'- TGCAAGTACCAGGACACAGTGTC -3'

Posted On

2019-11-26