Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01883:Sp140l2'

278995

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sp140l2

Ensembl Gene

ENSMUSG00000052477

Gene Name

Sp140 nuclear body protein like 2

Synonyms

OTTMUSG00000029174, C130026I21Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.373) question?

Stock #

IGL01883

Quality Score

Status

Chromosome

Chromosomal Location

85219007-85260602 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 85231907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125215 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064341] [ENSMUST00000093506] [ENSMUST00000159582] [ENSMUST00000161267] [ENSMUST00000162421]

AlphaFold

Q8C898

Predicted Effect

probably benign
Transcript: ENSMUST00000064341

SMART Domains

Protein: ENSMUSP00000066587
Gene: ENSMUSG00000052477

Domain	Start	End	E-Value	Type
Pfam:Sp100	23	125	2.8e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093506

SMART Domains

Protein: ENSMUSP00000091224
Gene: ENSMUSG00000052477

Domain	Start	End	E-Value	Type
Pfam:Sp100	24	122	1.1e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159582

SMART Domains

Protein: ENSMUSP00000125160
Gene: ENSMUSG00000052477

Domain	Start	End	E-Value	Type
Pfam:Sp100	23	125	6.1e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161267

SMART Domains

Protein: ENSMUSP00000124435
Gene: ENSMUSG00000052477

Domain	Start	End	E-Value	Type
Pfam:Sp100	23	119	1.8e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161685

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162347

Predicted Effect

probably benign
Transcript: ENSMUST00000162421

SMART Domains

Protein: ENSMUSP00000125215
Gene: ENSMUSG00000052477

Domain	Start	End	E-Value	Type
Pfam:Sp100	40	135	2.2e-39	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166777

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox3	C	A	1: 58,177,442 (GRCm39)	P219Q	probably damaging	Het
Arl2	A	G	19: 6,187,521 (GRCm39)	L109P	probably damaging	Het
Bhlha9	T	C	11: 76,563,924 (GRCm39)	S184P	probably benign	Het
C2cd3	G	A	7: 100,023,693 (GRCm39)	R93H	possibly damaging	Het
Cdcp1	A	G	9: 123,012,663 (GRCm39)	F295L	probably benign	Het
Cpsf7	A	T	19: 10,503,387 (GRCm39)	D6V	possibly damaging	Het
Fbxw28	A	T	9: 109,157,393 (GRCm39)	V285E	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm18025	T	A	12: 34,340,692 (GRCm39)	I134F	probably damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Kif11	A	C	19: 37,372,791 (GRCm39)	T60P	probably benign	Het
Myo7b	T	C	18: 32,131,204 (GRCm39)	D521G	probably damaging	Het
Polg	A	G	7: 79,108,066 (GRCm39)	L583P	probably damaging	Het
Ppp6r1	A	T	7: 4,642,986 (GRCm39)		probably null	Het
Rmc1	G	A	18: 12,311,296 (GRCm39)	V125I	probably benign	Het
Snap91	A	T	9: 86,657,665 (GRCm39)	W509R	probably damaging	Het
Tmem79	T	C	3: 88,237,145 (GRCm39)	N353D	probably damaging	Het

Other mutations in Sp140l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01866:Sp140l2	APN	1	85,231,907 (GRCm39)	intron	probably benign
IGL01876:Sp140l2	APN	1	85,231,907 (GRCm39)	intron	probably benign
IGL01880:Sp140l2	APN	1	85,231,907 (GRCm39)	intron	probably benign
IGL01886:Sp140l2	APN	1	85,231,907 (GRCm39)	intron	probably benign
IGL01888:Sp140l2	APN	1	85,231,907 (GRCm39)	intron	probably benign
IGL01893:Sp140l2	APN	1	85,231,907 (GRCm39)	intron	probably benign
IGL01898:Sp140l2	APN	1	85,231,907 (GRCm39)	intron	probably benign
IGL01906:Sp140l2	APN	1	85,231,907 (GRCm39)	intron	probably benign
IGL01908:Sp140l2	APN	1	85,231,907 (GRCm39)	intron	probably benign
IGL01909:Sp140l2	APN	1	85,231,907 (GRCm39)	intron	probably benign
IGL01916:Sp140l2	APN	1	85,231,907 (GRCm39)	intron	probably benign
IGL01918:Sp140l2	APN	1	85,231,907 (GRCm39)	intron	probably benign
IGL01920:Sp140l2	APN	1	85,231,907 (GRCm39)	intron	probably benign
IGL01923:Sp140l2	APN	1	85,231,907 (GRCm39)	intron	probably benign
IGL01928:Sp140l2	APN	1	85,231,907 (GRCm39)	intron	probably benign
IGL01933:Sp140l2	APN	1	85,231,907 (GRCm39)	intron	probably benign
IGL01945:Sp140l2	APN	1	85,231,907 (GRCm39)	intron	probably benign
IGL01949:Sp140l2	APN	1	85,231,907 (GRCm39)	intron	probably benign
IGL01951:Sp140l2	APN	1	85,231,907 (GRCm39)	intron	probably benign
IGL01952:Sp140l2	APN	1	85,231,907 (GRCm39)	intron	probably benign
PIT4131001:Sp140l2	UTSW	1	85,223,395 (GRCm39)	intron	probably benign
PIT4142001:Sp140l2	UTSW	1	85,223,395 (GRCm39)	intron	probably benign
R0067:Sp140l2	UTSW	1	85,247,773 (GRCm39)	missense	probably benign	0.00
R0367:Sp140l2	UTSW	1	85,247,824 (GRCm39)	start gained	probably benign
R0389:Sp140l2	UTSW	1	85,247,773 (GRCm39)	missense	probably benign	0.00
R1284:Sp140l2	UTSW	1	85,247,776 (GRCm39)	missense	probably damaging	0.98
R1620:Sp140l2	UTSW	1	85,231,907 (GRCm39)	intron	probably benign
R1622:Sp140l2	UTSW	1	85,231,907 (GRCm39)	intron	probably benign
R1671:Sp140l2	UTSW	1	85,235,106 (GRCm39)	critical splice donor site	probably null
R3115:Sp140l2	UTSW	1	85,235,106 (GRCm39)	intron	probably benign
R4120:Sp140l2	UTSW	1	85,237,542 (GRCm39)	missense	possibly damaging	0.82
R4223:Sp140l2	UTSW	1	85,090,278 (GRCm39)	missense	probably damaging	0.98
R4947:Sp140l2	UTSW	1	85,090,203 (GRCm39)	missense	probably damaging	1.00
R4996:Sp140l2	UTSW	1	85,224,815 (GRCm39)	missense	probably benign	0.12
R5152:Sp140l2	UTSW	1	85,239,581 (GRCm39)	missense	probably benign	0.04
R6614:Sp140l2	UTSW	1	85,179,781 (GRCm39)	splice site	probably null
R7675:Sp140l2	UTSW	1	85,224,736 (GRCm39)	missense	probably benign
R7784:Sp140l2	UTSW	1	85,190,195 (GRCm39)	splice site	probably null
R7839:Sp140l2	UTSW	1	85,224,736 (GRCm39)	missense	probably benign
R8010:Sp140l2	UTSW	1	85,224,671 (GRCm39)	missense	possibly damaging	0.53
R8034:Sp140l2	UTSW	1	85,231,881 (GRCm39)	missense	probably benign	0.35
R8382:Sp140l2	UTSW	1	85,224,671 (GRCm39)	missense	possibly damaging	0.53
R8431:Sp140l2	UTSW	1	85,235,170 (GRCm39)	missense	probably benign	0.00
R8690:Sp140l2	UTSW	1	85,235,170 (GRCm39)	missense	probably benign	0.00
R8951:Sp140l2	UTSW	1	85,224,671 (GRCm39)	missense	possibly damaging	0.53
R9150:Sp140l2	UTSW	1	85,091,359 (GRCm39)	missense	probably damaging	0.96
Z1176:Sp140l2	UTSW	1	85,091,244 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16