Mutagenetix > Incidental Mutation

Incidental Mutation 'R2323:Snrpc'

244826

Institutional Source

Beutler Lab

Gene Symbol

Snrpc

Ensembl Gene

ENSMUSG00000024217

Gene Name

U1 small nuclear ribonucleoprotein C

Synonyms

Snrp1c, U1-C

MMRRC Submission

040314-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R2323 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27839974-27851968 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 27847974 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 91 (M91R)

Ref Sequence

ENSEMBL: ENSMUSP00000063976 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071006]

AlphaFold

Q62241

Predicted Effect

unknown
Transcript: ENSMUST00000071006
AA Change: M91R

SMART Domains

Protein: ENSMUSP00000063976
Gene: ENSMUSG00000024217
AA Change: M91R

Domain	Start	End	E-Value	Type
ZnF_U1	1	37	5.13e-15	SMART
low complexity region	63	152	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137581

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	T	2: 25,445,175 (GRCm38)	M2008I	probably benign	Het
Adgrv1	A	G	13: 81,595,179 (GRCm38)	S68P	probably damaging	Het
Albfm1	T	A	5: 90,584,852 (GRCm38)	Y507*	probably null	Het
Anks3	T	C	16: 4,950,770 (GRCm38)		probably null	Het
Asap2	T	C	12: 21,203,968 (GRCm38)	I160T	probably damaging	Het
Asb15	T	A	6: 24,556,601 (GRCm38)	F32I	probably benign	Het
Catip	A	T	1: 74,363,278 (GRCm38)	M103L	probably benign	Het
Cela2a	G	C	4: 141,826,079 (GRCm38)		probably benign	Het
Crebrf	T	C	17: 26,763,607 (GRCm38)		probably benign	Het
Dnah10	T	C	5: 124,742,000 (GRCm38)	M450T	probably damaging	Het
Dst	T	C	1: 34,228,437 (GRCm38)	S5165P	possibly damaging	Het
Esrp2	T	A	8: 106,134,302 (GRCm38)	D196V	probably benign	Het
Hmox2	A	T	16: 4,765,856 (GRCm38)	K263*	probably null	Het
Ints10	A	G	8: 68,819,345 (GRCm38)	H566R	probably benign	Het
Ints12	G	A	3: 133,109,365 (GRCm38)	M444I	possibly damaging	Het
Liph	A	G	16: 21,984,004 (GRCm38)	V105A	probably damaging	Het
Myo1e	T	A	9: 70,378,758 (GRCm38)	Y941*	probably null	Het
Myo7b	T	C	18: 31,971,345 (GRCm38)	E1450G	probably damaging	Het
Myt1	G	T	2: 181,806,557 (GRCm38)	A594S	probably damaging	Het
Npas3	T	A	12: 54,068,346 (GRCm38)	Y666N	probably damaging	Het
Npsr1	A	G	9: 24,300,436 (GRCm38)	K240E	probably damaging	Het
Or52h7	T	C	7: 104,564,619 (GRCm38)	F133L	probably benign	Het
Rtkn2	A	G	10: 68,001,934 (GRCm38)	I102M	probably damaging	Het
Rundc1	T	C	11: 101,425,275 (GRCm38)	F58L	probably damaging	Het
Tgfbr2	T	C	9: 116,110,144 (GRCm38)	K205R	possibly damaging	Het
Tmem181a	T	A	17: 6,295,786 (GRCm38)	L185H	probably damaging	Het
Tnfrsf21	C	A	17: 43,085,529 (GRCm38)	S568*	probably null	Het
Tulp1	C	T	17: 28,362,482 (GRCm38)	G239D	probably damaging	Het
Vmn1r234	T	C	17: 21,229,703 (GRCm38)	I293T	probably benign	Het
Vmn1r26	T	C	6: 58,008,857 (GRCm38)	K116E	probably damaging	Het
Vmn2r98	T	A	17: 19,065,819 (GRCm38)	I193K	probably benign	Het
Wnk4	T	A	11: 101,268,481 (GRCm38)	S575T	probably damaging	Het
Zfp558	A	T	9: 18,469,277 (GRCm38)		probably null	Het
Zscan18	T	C	7: 12,775,459 (GRCm38)		probably benign	Het

Other mutations in Snrpc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1789:Snrpc	UTSW	17	27,845,219 (GRCm38)	missense	unknown
R4756:Snrpc	UTSW	17	27,842,332 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CACCATGACATGTTACAGTTGTG -3'
(R):5'- TGCTGTCAGTGGCACAAACC -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- TGTCAGTGGCACAAACCAAATC -3'

Posted On

2014-10-30