Mutagenetix > Incidental Mutation

Incidental Mutation 'R7844:Snrnp48'

606532

Institutional Source

Beutler Lab

Gene Symbol

Snrnp48

Ensembl Gene

ENSMUSG00000021431

Gene Name

small nuclear ribonucleoprotein 48 (U11/U12)

Synonyms

1110050F08Rik, 6530403A03Rik

MMRRC Submission

045898-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R7844 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

38388914-38411641 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38393965 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 90 (E90G)

Ref Sequence

ENSEMBL: ENSMUSP00000089230 (fasta)

Gene Model

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

AlphaFold

Q9D361

Predicted Effect

probably null
Transcript: ENSMUST00000091641
AA Change: E90G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000089230
Gene: ENSMUSG00000021431
AA Change: E90G

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 null
Transcript: ENSMUST00000178564
AA Change: E90G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136202
Gene: ENSMUSG00000021431
AA Change: E90G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (58/59)

Allele List at MGI

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

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,423 (GRCm39)	E65G	unknown	Het
Aadacl2fm2	A	T	3: 59,637,318 (GRCm39)	I27F	probably benign	Het
Abcg5	A	T	17: 84,981,018 (GRCm39)	N190K	possibly damaging	Het
Abhd6	A	C	14: 8,039,792 (GRCm38)	H55P	probably benign	Het
Acox3	A	T	5: 35,764,492 (GRCm39)	Q535L	probably benign	Het
Adora1	A	G	1: 134,131,276 (GRCm39)	W132R	probably damaging	Het
Armc3	A	G	2: 19,258,829 (GRCm39)	I299V	possibly damaging	Het
Atp11a	A	G	8: 12,901,039 (GRCm39)	D956G	possibly damaging	Het
Bptf	C	A	11: 106,964,887 (GRCm39)	V1436F	probably damaging	Het
Brd9	A	G	13: 74,086,652 (GRCm39)	Y51C	probably damaging	Het
Cdh18	T	C	15: 23,410,873 (GRCm39)	W453R	probably damaging	Het
Cfap54	T	C	10: 92,737,920 (GRCm39)	Q2326R	unknown	Het
Col4a2	G	T	8: 11,475,453 (GRCm39)	E626*	probably null	Het
Dpp8	A	G	9: 64,952,949 (GRCm39)	I208M	probably damaging	Het
Evi5	T	C	5: 108,022,860 (GRCm39)	R16G	probably benign	Het
Gabrg1	T	C	5: 70,931,675 (GRCm39)	Y356C	probably damaging	Het
Gbp7	G	T	3: 142,242,147 (GRCm39)	V94L	probably benign	Het
Gm4884	A	C	7: 40,690,122 (GRCm39)	Q6P	probably benign	Het
Gm9767	A	T	10: 25,954,255 (GRCm39)		probably benign	Het
Gopc	T	C	10: 52,215,845 (GRCm39)	S448G	possibly damaging	Het
Gpr15	A	T	16: 58,538,873 (GRCm39)	I72N	probably damaging	Het
Hsd17b11	T	A	5: 104,166,132 (GRCm39)	T76S	probably damaging	Het
Inhbe	A	G	10: 127,186,779 (GRCm39)	S134P	possibly damaging	Het
Inpp4b	G	A	8: 82,467,949 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,322,062 (GRCm39)	V556A	probably benign	Het
Klhdc2	T	A	12: 69,349,180 (GRCm39)	F106I	probably damaging	Het
Krt7	G	A	15: 101,310,515 (GRCm39)	G54D	possibly damaging	Het
Mecom	T	G	3: 30,063,973 (GRCm39)	Y39S	unknown	Het
Mrpl49	C	T	19: 6,105,200 (GRCm39)	R87H	probably damaging	Het
Nfat5	A	G	8: 108,085,300 (GRCm39)	D531G	probably damaging	Het
Nlrp9a	A	T	7: 26,262,006 (GRCm39)	K718N	possibly damaging	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Or52d1	T	G	7: 103,755,690 (GRCm39)	L68W	probably damaging	Het
Pigu	A	C	2: 155,134,640 (GRCm39)	Y388*	probably null	Het
Pirb	A	T	7: 3,722,410 (GRCm39)	C144*	probably null	Het
Pkm	A	G	9: 59,578,005 (GRCm39)	H274R	probably benign	Het
Plch2	C	A	4: 155,073,922 (GRCm39)	D927Y	probably damaging	Het
Rock1	T	G	18: 10,104,173 (GRCm39)	K596Q	probably damaging	Het
Scaper	A	T	9: 55,722,732 (GRCm39)	M692K	probably benign	Het
Serpine1	C	A	5: 137,100,043 (GRCm39)	G39*	probably null	Het
Serpine2	T	C	1: 79,794,516 (GRCm39)	Q139R	probably benign	Het
Sipa1l1	C	A	12: 82,444,267 (GRCm39)	R993S	probably damaging	Het
Slc12a9	T	C	5: 137,330,448 (GRCm39)	T86A	probably damaging	Het
Slc30a6	G	A	17: 74,711,088 (GRCm39)		probably null	Het
Spaca7b	A	T	8: 11,706,174 (GRCm39)	I120K	probably benign	Het
Spdl1	A	T	11: 34,704,170 (GRCm39)	N554K	possibly damaging	Het
Spon1	G	A	7: 113,629,567 (GRCm39)	V404I	probably benign	Het
Tada3	C	T	6: 113,347,921 (GRCm39)	R300H	probably benign	Het
Tcl1b5	G	A	12: 105,142,815 (GRCm39)		probably null	Het
Tdrd9	A	G	12: 111,964,386 (GRCm39)	Y336C	possibly damaging	Het
Timm44	A	G	8: 4,319,976 (GRCm39)	L64P	possibly damaging	Het
Tpo	A	G	12: 30,150,404 (GRCm39)	L492P	probably damaging	Het
Trip11	T	G	12: 101,844,403 (GRCm39)	Q1565P	probably damaging	Het
Trpm2	A	G	10: 77,759,340 (GRCm39)	I1148T	probably benign	Het
Tshz1	T	C	18: 84,032,296 (GRCm39)	E704G	probably benign	Het
Tysnd1	C	T	10: 61,537,944 (GRCm39)	R541*	probably null	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
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
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'- GACGCATTGAGAGAACTCCC -3'
(R):5'- TGTTAAGGATTGCACAGTTGGC -3'

Sequencing Primer
(F):5'- CACATGGGATTGAGGCCC -3'
(R):5'- CAGTTGGCTGTTTTAAGATTTGAG -3'

Posted On

2019-12-20