Mutagenetix > Incidental Mutation

Incidental Mutation 'R3419:Snrnp48'

266983

Institutional Source

Beutler Lab

Gene Symbol

Snrnp48

Ensembl Gene

ENSMUSG00000021431

Gene Name

small nuclear ribonucleoprotein 48 (U11/U12)

Synonyms

1110050F08Rik, 6530403A03Rik

MMRRC Submission

040637-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R3419 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

38388914-38411641 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 38405335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 248 (D248N)

Ref Sequence

ENSEMBL: ENSMUSP00000136202 (fasta)

Gene Model

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

AlphaFold

Q9D361

Predicted Effect

probably benign
Transcript: ENSMUST00000091641
AA Change: D311N

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000089230
Gene: ENSMUSG00000021431
AA Change: D311N

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

possibly damaging
Transcript: ENSMUST00000178564
AA Change: D248N

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136202
Gene: ENSMUSG00000021431
AA Change: D248N

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: ENSMUST00000223680

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223893

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224192

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	A	G	6: 133,271,082 (GRCm39)	Q42R	probably benign	Het
Ankrd26	A	G	6: 118,512,068 (GRCm39)	L518P	probably damaging	Het
Armc9	T	C	1: 86,122,060 (GRCm39)	L395P	probably damaging	Het
Baz1a	T	C	12: 54,993,684 (GRCm39)	K181E	probably benign	Het
Bend3	T	C	10: 43,385,978 (GRCm39)	S124P	probably damaging	Het
Cdh5	C	T	8: 104,856,002 (GRCm39)	R312C	probably damaging	Het
Col6a3	T	C	1: 90,731,813 (GRCm39)	D873G	probably benign	Het
Dmbx1	G	C	4: 115,777,873 (GRCm39)	R64G	probably benign	Het
Dpy19l2	T	C	9: 24,492,501 (GRCm39)	E699G	probably damaging	Het
Dync2i1	C	T	12: 116,188,597 (GRCm39)	V666I	probably benign	Het
Eef2k	T	A	7: 120,485,093 (GRCm39)	M320K	probably damaging	Het
Exoc5	A	T	14: 49,260,735 (GRCm39)	N377K	probably damaging	Het
Fam20c	A	T	5: 138,743,623 (GRCm39)	N220Y	probably damaging	Het
Fchsd2	T	A	7: 100,927,867 (GRCm39)		probably null	Het
Flrt2	A	G	12: 95,747,378 (GRCm39)	Y572C	probably damaging	Het
Gm17093	A	G	14: 44,759,047 (GRCm39)	I190V	unknown	Het
Gsto1	T	C	19: 47,846,344 (GRCm39)	F64L	probably benign	Het
Gucy1a1	A	G	3: 82,013,440 (GRCm39)	S401P	probably damaging	Het
Hoxd10	A	G	2: 74,522,921 (GRCm39)	K200E	probably benign	Het
Kcnj13	T	C	1: 87,314,641 (GRCm39)	T194A	probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lacc1	T	G	14: 77,272,321 (GRCm39)	E158D	probably benign	Het
Lyn	A	T	4: 3,746,833 (GRCm39)	I204F	probably damaging	Het
Mapk6	T	C	9: 75,305,039 (GRCm39)	E126G	probably damaging	Het
Mbd6	C	G	10: 127,122,372 (GRCm39)	R152P	probably null	Het
Or2h1b	A	T	17: 37,462,242 (GRCm39)	V53E	probably damaging	Het
Or52e15	A	G	7: 104,645,727 (GRCm39)	I128T	probably damaging	Het
Or8g17	C	T	9: 38,930,372 (GRCm39)	C155Y	probably benign	Het
P2ry1	T	C	3: 60,911,133 (GRCm39)	F91L	probably damaging	Het
Paqr3	A	G	5: 97,247,559 (GRCm39)	L183P	probably damaging	Het
Pcdh15	C	A	10: 74,420,054 (GRCm39)	D1166E	probably benign	Het
Pik3r1	T	C	13: 101,828,723 (GRCm39)	D25G	probably benign	Het
Poc5	A	T	13: 96,540,925 (GRCm39)	T365S	possibly damaging	Het
Polr3a	A	G	14: 24,517,103 (GRCm39)	L716P	probably damaging	Het
Ppp1r3a	A	T	6: 14,719,413 (GRCm39)	D500E	probably benign	Het
Ptcd3	A	T	6: 71,860,470 (GRCm39)	I579K	possibly damaging	Het
Rnf168	A	G	16: 32,118,010 (GRCm39)	N524D	probably benign	Het
Scn7a	AT	ATT	2: 66,531,239 (GRCm39)		probably null	Het
Sel1l	A	G	12: 91,776,776 (GRCm39)	W689R	probably damaging	Het
Serpinb13	T	C	1: 106,926,657 (GRCm39)	S218P	probably damaging	Het
Serpini1	A	G	3: 75,547,589 (GRCm39)	Y367C	probably damaging	Het
St6galnac4	A	G	2: 32,485,743 (GRCm39)	T217A	probably damaging	Het
Tdrd1	T	A	19: 56,819,663 (GRCm39)	N54K	possibly damaging	Het
Tmem30c	A	G	16: 57,098,031 (GRCm39)	V130A	probably benign	Het
Trpa1	T	C	1: 14,944,605 (GRCm39)	I1046M	probably benign	Het
Tulp2	T	A	7: 45,168,176 (GRCm39)	M196K	possibly damaging	Het
Unc5b	G	A	10: 60,614,593 (GRCm39)	R235W	probably damaging	Het
Vmn1r175	A	T	7: 23,508,075 (GRCm39)	M184K	probably damaging	Het
Vmn2r2	A	T	3: 64,024,320 (GRCm39)	F754I	probably benign	Het
Vmn2r9	A	C	5: 108,994,299 (GRCm39)	M450R	probably 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
R2026:Snrnp48	UTSW	13	38,393,862 (GRCm39)	missense	possibly damaging	0.46
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'- TTATGCCATCGATAGGATTGGGATAC -3'
(R):5'- TAGTCTGTGAGCTGACGCAC -3'

Sequencing Primer
(F):5'- CCATCGATAGGATTGGGATACTGTAC -3'
(R):5'- GCTGACGCACGGTGAATG -3'

Posted On

2015-02-18