Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02635:Snrnp48'

301504

Institutional Source

Australian Phenomics Network (link to record)

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: 0.963) question?

Stock #

IGL02635

Quality Score

Status

Chromosome

Chromosomal Location

38388914-38411641 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 38393845 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136202 (fasta)

Gene Model

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

AlphaFold

Q9D361

Predicted Effect

probably benign
Transcript: ENSMUST00000091641

SMART Domains

Protein: ENSMUSP00000089230
Gene: ENSMUSG00000021431

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

SMART Domains

Protein: ENSMUSP00000136202
Gene: ENSMUSG00000021431

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

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730018C14Rik	A	C	12: 112,381,586 (GRCm39)		noncoding transcript	Het
Abcc12	C	T	8: 87,236,311 (GRCm39)		probably benign	Het
Akap9	T	C	5: 4,120,500 (GRCm39)	S3639P	possibly damaging	Het
Ankar	C	T	1: 72,691,590 (GRCm39)	V1124I	possibly damaging	Het
AW209491	C	T	13: 14,811,852 (GRCm39)	A235V	possibly damaging	Het
Cask	A	T	X: 13,581,009 (GRCm39)	D58E	probably damaging	Het
Cdhr4	T	A	9: 107,870,070 (GRCm39)	M25K	probably benign	Het
Clasp2	A	G	9: 113,737,910 (GRCm39)	I1096V	probably damaging	Het
Fam234a	T	A	17: 26,433,427 (GRCm39)	I410F	possibly damaging	Het
Gbe1	T	C	16: 70,365,902 (GRCm39)	L693P	probably damaging	Het
Golgb1	G	T	16: 36,735,375 (GRCm39)	V1541L	probably benign	Het
Gpr143	G	A	X: 151,591,257 (GRCm39)	E382K	probably damaging	Het
Gpr171	C	T	3: 59,005,017 (GRCm39)	V253I	probably benign	Het
Gsap	T	A	5: 21,494,814 (GRCm39)	W10R	probably damaging	Het
Hsd17b12	T	A	2: 93,913,556 (GRCm39)	D116V	possibly damaging	Het
Ifih1	A	T	2: 62,442,173 (GRCm39)	L348Q	probably damaging	Het
Ighv1-50	G	A	12: 115,083,615 (GRCm39)	A35V	probably benign	Het
Lrcol1	A	C	5: 110,502,459 (GRCm39)	M112L	probably benign	Het
Lrrc59	T	A	11: 94,534,282 (GRCm39)	V280E	probably damaging	Het
Med17	A	T	9: 15,185,845 (GRCm39)	I223K	probably damaging	Het
Oog3	T	C	4: 143,884,715 (GRCm39)	N407S	probably damaging	Het
Or4e1	T	C	14: 52,701,251 (GRCm39)	I72V	probably damaging	Het
Pear1	T	C	3: 87,657,453 (GRCm39)	*1035W	probably null	Het
Pkd1	T	A	17: 24,791,785 (GRCm39)	F1157L	probably damaging	Het
Pkp4	T	C	2: 59,135,842 (GRCm39)		probably benign	Het
Ppl	T	C	16: 4,907,631 (GRCm39)	E888G	probably benign	Het
Prh1	G	A	6: 132,549,246 (GRCm39)	G251E	unknown	Het
Prkar2a	A	G	9: 108,605,476 (GRCm39)	E178G	probably damaging	Het
Rfx6	A	T	10: 51,592,122 (GRCm39)	T352S	possibly damaging	Het
S1pr1	T	C	3: 115,505,739 (GRCm39)	K285R	probably benign	Het
Slc12a1	A	G	2: 125,067,898 (GRCm39)	H995R	probably benign	Het
Slc25a54	T	A	3: 109,020,133 (GRCm39)	N382K	possibly damaging	Het
Spg11	T	C	2: 121,943,549 (GRCm39)	D201G	possibly damaging	Het
Stox1	T	C	10: 62,500,685 (GRCm39)	D625G	probably benign	Het
Supt6	T	C	11: 78,103,565 (GRCm39)	H1380R	probably damaging	Het
Tcp1	T	A	17: 13,142,296 (GRCm39)	M430K	probably benign	Het
Tlr12	A	T	4: 128,510,609 (GRCm39)	V547E	probably damaging	Het
Tmem255b	G	T	8: 13,505,195 (GRCm39)	D167Y	probably damaging	Het
Trpc7	T	C	13: 56,923,981 (GRCm39)	R735G	probably damaging	Het
Trpm1	A	G	7: 63,848,972 (GRCm39)	T73A	probably benign	Het
Ubr3	A	T	2: 69,850,827 (GRCm39)	L1748F	probably damaging	Het
Xirp2	T	C	2: 67,338,254 (GRCm39)	I165T	possibly damaging	Het
Ybx1	T	C	4: 119,136,286 (GRCm39)	N282S	possibly damaging	Het
Zdhhc12	T	A	2: 29,983,531 (GRCm39)	I24F	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
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
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

Posted On

2015-04-16