Mutagenetix > Incidental Mutation

Incidental Mutation 'R2026:Snrnp48'

220684

Institutional Source

Beutler Lab

Gene Symbol

Snrnp48

Ensembl Gene

ENSMUSG00000021431

Gene Name

small nuclear ribonucleoprotein 48 (U11/U12)

Synonyms

1110050F08Rik, 6530403A03Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R2026 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38388914-38411641 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 38393862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 56 (A56S)

Ref Sequence

ENSEMBL: ENSMUSP00000089230 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091641] [ENSMUST00000178564]

AlphaFold

Q9D361

Predicted Effect

possibly damaging
Transcript: ENSMUST00000091641
AA Change: A56S

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000089230
Gene: ENSMUSG00000021431
AA Change: A56S

Domain	Start	End	E-Value	Type
low complexity region	2	20	N/A	INTRINSIC
Pfam:zf-U11-48K	55	79	9.9e-13	PFAM
low complexity region	292	326	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178564
AA Change: A56S

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000136202
Gene: ENSMUSG00000021431
AA Change: A56S

Domain	Start	End	E-Value	Type
low complexity region	2	20	N/A	INTRINSIC
Pfam:zf-U11-48K	54	80	3.4e-14	PFAM
low complexity region	229	263	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223557

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223814

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

All alleles(7) : Targeted(1) Gene trapped(6)

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	G	8: 120,880,205 (GRCm39)	K269R	probably benign	Het
Abcc12	A	G	8: 87,284,862 (GRCm39)	V251A	probably benign	Het
Avil	G	A	10: 126,847,742 (GRCm39)	G556S	probably damaging	Het
C3	T	C	17: 57,525,562 (GRCm39)	Y898C	probably damaging	Het
Cacng2	A	G	15: 77,879,720 (GRCm39)	F201L	possibly damaging	Het
Casp7	T	A	19: 56,424,830 (GRCm39)	I183N	probably damaging	Het
Cntn3	A	T	6: 102,397,388 (GRCm39)	W62R	probably damaging	Het
Ctrb1	T	C	8: 112,415,317 (GRCm39)	N119S	probably benign	Het
Cyp3a59	G	A	5: 146,033,098 (GRCm39)	V157M	probably damaging	Het
Dhfr	G	T	13: 92,502,279 (GRCm39)	G117*	probably null	Het
Dido1	A	T	2: 180,330,974 (GRCm39)	L158*	probably null	Het
Dlg2	C	A	7: 91,614,931 (GRCm39)	P290Q	probably damaging	Het
Dnah3	T	A	7: 119,638,629 (GRCm39)	Q1240L	probably damaging	Het
Exd1	A	T	2: 119,350,786 (GRCm39)	S492T	probably benign	Het
Fermt1	T	C	2: 132,760,445 (GRCm39)	I415M	probably benign	Het
Fsip2	A	G	2: 82,819,788 (GRCm39)	T5174A	possibly damaging	Het
Fuca2	T	G	10: 13,388,391 (GRCm39)	V389G	probably damaging	Het
Gm14412	A	T	2: 177,008,898 (GRCm39)	H50Q	possibly damaging	Het
Gm5129	G	A	5: 29,940,732 (GRCm39)		probably benign	Het
Hif3a	T	C	7: 16,778,322 (GRCm39)	R437G	possibly damaging	Het
Hook3	T	C	8: 26,528,126 (GRCm39)	E588G	probably damaging	Het
Hs1bp3	A	G	12: 8,387,738 (GRCm39)	E301G	probably benign	Het
Icam2	A	G	11: 106,273,268 (GRCm39)	F15L	probably benign	Het
Ice2	T	C	9: 69,323,607 (GRCm39)	S701P	probably benign	Het
Igf2bp1	A	G	11: 95,864,996 (GRCm39)	V151A	possibly damaging	Het
Lig4	A	T	8: 10,022,436 (GRCm39)	L448Q	probably damaging	Het
Man2b1	G	C	8: 85,821,964 (GRCm39)	W726C	probably damaging	Het
Mepe	T	C	5: 104,474,957 (GRCm39)	S13P	possibly damaging	Het
Msh6	C	T	17: 88,297,771 (GRCm39)	H1264Y	probably damaging	Het
Ncoa1	A	T	12: 4,317,647 (GRCm39)	S1228R	probably benign	Het
Ndufa10	A	G	1: 92,367,614 (GRCm39)	Y339H	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Nutm2	A	G	13: 50,628,856 (GRCm39)	H640R	probably benign	Het
Or11i1	T	C	3: 106,729,027 (GRCm39)	I283V	probably benign	Het
Or2t1	T	C	14: 14,328,891 (GRCm38)	V260A	probably benign	Het
Or51ac3	T	A	7: 103,214,084 (GRCm39)	Y134F	probably damaging	Het
Or5b123	T	A	19: 13,596,945 (GRCm39)	C140S	probably damaging	Het
Or5w1b	G	T	2: 87,475,753 (GRCm39)	A238E	probably damaging	Het
Or6c211	T	A	10: 129,506,334 (GRCm39)	D18V	probably damaging	Het
Pde1c	C	T	6: 56,157,175 (GRCm39)	V162I	probably damaging	Het
Pdss2	A	T	10: 43,269,871 (GRCm39)	N238I	possibly damaging	Het
Pfas	C	T	11: 68,884,783 (GRCm39)	G473E	probably damaging	Het
Pkn1	A	G	8: 84,398,007 (GRCm39)	V795A	probably damaging	Het
Polq	A	G	16: 36,883,107 (GRCm39)	D1757G	possibly damaging	Het
Popdc3	T	C	10: 45,190,951 (GRCm39)	W21R	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rfc1	G	T	5: 65,445,372 (GRCm39)	T412K	probably damaging	Het
Sap130	T	C	18: 31,831,627 (GRCm39)	S706P	possibly damaging	Het
Scgn	T	C	13: 24,175,047 (GRCm39)		probably benign	Het
Smad7	T	C	18: 75,527,225 (GRCm39)	V357A	probably damaging	Het
Sptbn1	G	T	11: 30,054,559 (GRCm39)	A2178E	probably benign	Het
Syn2	C	T	6: 115,255,212 (GRCm39)	T508I	probably benign	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tmtc4	T	C	14: 123,158,677 (GRCm39)	N682S	probably benign	Het
Trpm7	T	C	2: 126,654,658 (GRCm39)	K1427E	probably benign	Het
Trrap	A	G	5: 144,739,854 (GRCm39)	I1118V	possibly damaging	Het
Tslp	A	T	18: 32,948,725 (GRCm39)	I37L	probably benign	Het
Ttll3	G	A	6: 113,375,731 (GRCm39)	V297M	probably damaging	Het
Ttn	T	C	2: 76,540,713 (GRCm39)	D34091G	possibly damaging	Het
Txndc11	CCCGCCGCCGCCGCCGC	CCCGCCGCCGCCGC	16: 10,952,338 (GRCm39)		probably benign	Het
Ube3a	T	C	7: 58,953,474 (GRCm39)	F803L	probably damaging	Het
Ubn1	A	G	16: 4,882,514 (GRCm39)	E325G	probably damaging	Het
Wfikkn2	A	G	11: 94,129,779 (GRCm39)	W121R	possibly damaging	Het
Zfp579	C	A	7: 4,996,520 (GRCm39)	E464*	probably null	Het
Zfp616	A	T	11: 73,974,413 (GRCm39)	L227F	possibly damaging	Het

Other mutations in Snrnp48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Snrnp48	APN	13	38,404,740 (GRCm39)	missense	probably damaging	0.99
IGL02080:Snrnp48	APN	13	38,400,466 (GRCm39)	missense	probably damaging	1.00
IGL02635:Snrnp48	APN	13	38,393,845 (GRCm39)	splice site	probably benign
R0057:Snrnp48	UTSW	13	38,400,356 (GRCm39)	nonsense	probably null
R1460:Snrnp48	UTSW	13	38,395,081 (GRCm39)	missense	probably benign	0.02
R1542:Snrnp48	UTSW	13	38,404,680 (GRCm39)	missense	probably damaging	1.00
R1789:Snrnp48	UTSW	13	38,405,336 (GRCm39)	missense	possibly damaging	0.85
R3419:Snrnp48	UTSW	13	38,405,335 (GRCm39)	missense	possibly damaging	0.85
R3892:Snrnp48	UTSW	13	38,401,365 (GRCm39)	missense	possibly damaging	0.93
R4485:Snrnp48	UTSW	13	38,400,304 (GRCm39)	missense	probably benign	0.02
R4739:Snrnp48	UTSW	13	38,393,893 (GRCm39)	missense	probably damaging	1.00
R4790:Snrnp48	UTSW	13	38,405,299 (GRCm39)	missense	probably damaging	1.00
R5226:Snrnp48	UTSW	13	38,389,093 (GRCm39)	missense	probably benign	0.12
R5364:Snrnp48	UTSW	13	38,394,165 (GRCm39)	splice site	probably null
R6124:Snrnp48	UTSW	13	38,400,439 (GRCm39)	missense	possibly damaging	0.48
R6158:Snrnp48	UTSW	13	38,394,212 (GRCm39)	nonsense	probably null
R7194:Snrnp48	UTSW	13	38,393,875 (GRCm39)	missense	probably damaging	1.00
R7610:Snrnp48	UTSW	13	38,393,937 (GRCm39)	missense	probably damaging	1.00
R7749:Snrnp48	UTSW	13	38,405,263 (GRCm39)	missense	probably benign	0.00
R7844:Snrnp48	UTSW	13	38,393,965 (GRCm39)	missense	probably null	1.00
R8924:Snrnp48	UTSW	13	38,400,397 (GRCm39)	missense	probably damaging	1.00
R9381:Snrnp48	UTSW	13	38,404,667 (GRCm39)	missense	probably damaging	1.00
R9599:Snrnp48	UTSW	13	38,393,920 (GRCm39)	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- CAGTGAGGTACTTGTGGCAG -3'
(R):5'- GGGCTCACAATACACTCTCCTG -3'

Sequencing Primer
(F):5'- TGAATGCTAAACTTTGAAGGGCTG -3'
(R):5'- ACACTCTCCTGACTTACTAATGAATG -3'

Posted On

2014-08-25