Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01011:Snrnp48'

53932

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 #

IGL01011

Quality Score

Status

Chromosome

Chromosomal Location

38388914-38411641 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38404740 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 202 (D202G)

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: D265G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000089230
Gene: ENSMUSG00000021431
AA Change: D265G

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 damaging
Transcript: ENSMUST00000178564
AA Change: D202G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136202
Gene: ENSMUSG00000021431
AA Change: D202G

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

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,165,529 (GRCm39)	C282S	probably damaging	Het
Abca12	T	C	1: 71,302,791 (GRCm39)	I2143V	probably benign	Het
Adgrg6	A	C	10: 14,285,542 (GRCm39)	I1148S	probably damaging	Het
Aox4	C	T	1: 58,279,934 (GRCm39)	R517*	probably null	Het
Arnt2	T	A	7: 83,935,037 (GRCm39)	D289V	probably benign	Het
Atad2b	A	G	12: 5,015,984 (GRCm39)	N570S	probably benign	Het
Aven	G	A	2: 112,460,130 (GRCm39)	D208N	possibly damaging	Het
Bcl9l	A	G	9: 44,416,476 (GRCm39)	D183G	possibly damaging	Het
Cd300lf	A	G	11: 115,015,159 (GRCm39)	S144P	probably benign	Het
Chd8	C	A	14: 52,468,989 (GRCm39)	G543V	possibly damaging	Het
Chrm2	A	G	6: 36,501,373 (GRCm39)	N410S	probably benign	Het
Clip4	A	G	17: 72,156,934 (GRCm39)	I590V	probably benign	Het
Cnbp	C	T	6: 87,822,682 (GRCm39)	R27H	probably benign	Het
Col4a3	T	C	1: 82,660,022 (GRCm39)	V889A	unknown	Het
Cxcl5	T	C	5: 90,908,382 (GRCm39)		probably benign	Het
Dennd6a	G	T	14: 26,324,209 (GRCm39)	V171F	probably damaging	Het
Dhx38	T	C	8: 110,289,323 (GRCm39)	I26V	probably benign	Het
Dscaml1	A	G	9: 45,594,970 (GRCm39)	D691G	possibly damaging	Het
Etfdh	A	T	3: 79,519,368 (GRCm39)		probably benign	Het
Fbn2	G	A	18: 58,228,312 (GRCm39)		probably benign	Het
Foxp2	T	A	6: 15,438,018 (GRCm39)	*715R	probably null	Het
Ftl1	A	T	7: 45,108,070 (GRCm39)	D65E	probably benign	Het
Galm	A	G	17: 80,490,709 (GRCm39)	T289A	probably benign	Het
Gm20721	A	G	2: 174,187,531 (GRCm39)	D1049G	probably damaging	Het
Gm28778	T	C	1: 53,338,277 (GRCm39)	V47A	probably benign	Het
Gm5414	T	C	15: 101,536,569 (GRCm39)	S19G	probably benign	Het
H1f6	C	T	13: 23,880,032 (GRCm39)	L62F	probably damaging	Het
Hdac7	T	A	15: 97,691,816 (GRCm39)	E835D	possibly damaging	Het
Hspg2	C	T	4: 137,286,646 (GRCm39)	T3663I	probably damaging	Het
Kdm4d	A	T	9: 14,375,515 (GRCm39)	D114E	probably benign	Het
Kif5a	A	T	10: 127,075,065 (GRCm39)	V516E	probably benign	Het
Lrrtm1	A	G	6: 77,221,218 (GRCm39)		probably null	Het
Miga1	G	T	3: 151,982,327 (GRCm39)	T519K	probably benign	Het
Mtfr1l	G	A	4: 134,256,511 (GRCm39)	P182S	probably damaging	Het
Myo15a	A	G	11: 60,367,818 (GRCm39)	I193V	probably benign	Het
Myo1e	T	C	9: 70,223,871 (GRCm39)		probably benign	Het
Or13a26	A	T	7: 140,284,350 (GRCm39)	Y62F	probably damaging	Het
Or1e1c	A	T	11: 73,265,833 (GRCm39)	Q86L	probably benign	Het
Or5h22	T	A	16: 58,894,793 (GRCm39)	T217S	probably benign	Het
Pias1	T	C	9: 62,820,137 (GRCm39)	T277A	probably benign	Het
Skic3	G	A	13: 76,270,784 (GRCm39)	C127Y	probably damaging	Het
Slamf6	T	A	1: 171,765,666 (GRCm39)	H263Q	probably benign	Het
Snx13	T	A	12: 35,148,279 (GRCm39)	D269E	probably damaging	Het
Tiam2	A	T	17: 3,465,303 (GRCm39)	D344V	probably benign	Het
Tmem62	G	T	2: 120,809,700 (GRCm39)	K127N	possibly damaging	Het
Trav15-1-dv6-1	C	T	14: 53,797,492 (GRCm39)	T46I	possibly damaging	Het
Trav16d-dv11	C	T	14: 53,285,041 (GRCm39)	T39M	possibly damaging	Het
Trio	T	C	15: 27,736,575 (GRCm39)	D2794G	probably damaging	Het
Trpc7	C	T	13: 56,952,353 (GRCm39)	G551D	probably damaging	Het
Ttn	A	G	2: 76,644,634 (GRCm39)	V11294A	possibly damaging	Het
Ubap2	G	A	4: 41,195,328 (GRCm39)		probably benign	Het
Ubap2l	G	A	3: 89,916,563 (GRCm39)	Q915*	probably null	Het
Ubfd1	A	G	7: 121,677,695 (GRCm39)	E340G	probably benign	Het
Vil1	T	C	1: 74,474,046 (GRCm39)		probably null	Het
Vmn1r6	T	G	6: 56,979,529 (GRCm39)	L42V	probably benign	Het
Vps13c	A	G	9: 67,834,237 (GRCm39)	T1635A	probably damaging	Het
Zfhx3	T	A	8: 109,520,226 (GRCm39)	H449Q	probably benign	Het
Zfp750	A	T	11: 121,403,922 (GRCm39)	S318T	probably benign	Het

Other mutations in Snrnp48

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-06-28