Mutagenetix > Incidental Mutation

Incidental Mutation 'R1147:Sp140l1'

102468

Institutional Source

Beutler Lab

Gene Symbol

Sp140l1

Ensembl Gene

ENSMUSG00000089844

Gene Name

Sp140 nuclear body protein like 1

Synonyms

A530032D15Rik, LOC381287

MMRRC Submission

039220-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R1147 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

85065860-85088016 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 85077226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 113 (K113N)

Ref Sequence

ENSEMBL: ENSMUSP00000123750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097669] [ENSMUST00000160792] [ENSMUST00000161675] [ENSMUST00000161724]

AlphaFold

E9Q422

Predicted Effect

probably benign
Transcript: ENSMUST00000097669

SMART Domains

Protein: ENSMUSP00000137265
Gene: ENSMUSG00000073631

Domain	Start	End	E-Value	Type
low complexity region	111	123	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159114

Predicted Effect

probably benign
Transcript: ENSMUST00000160792
AA Change: K113N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000125122
Gene: ENSMUSG00000089844
AA Change: K113N

Domain	Start	End	E-Value	Type
Pfam:Sp100	23	125	9.7e-35	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161675
AA Change: K113N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000123812
Gene: ENSMUSG00000089844
AA Change: K113N

Domain	Start	End	E-Value	Type
Pfam:Sp100	23	121	3.7e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161724
AA Change: K113N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000123750
Gene: ENSMUSG00000089844
AA Change: K113N

Domain	Start	End	E-Value	Type
Pfam:Sp100	24	122	2.4e-40	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 97.7%
10x: 89.5%
20x: 66.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	T	C	8: 41,248,655 (GRCm39)	I255T	possibly damaging	Het
Aknad1	T	A	3: 108,659,857 (GRCm39)	N290K	possibly damaging	Het
Ano8	C	A	8: 71,934,661 (GRCm39)	V447F	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Ash1l	A	T	3: 88,892,194 (GRCm39)	M1358L	possibly damaging	Het
Ccdc110	A	G	8: 46,397,121 (GRCm39)	K837E	possibly damaging	Het
Cd19	T	A	7: 126,010,217 (GRCm39)	D384V	possibly damaging	Het
Ces1f	C	T	8: 93,984,909 (GRCm39)	V473I	possibly damaging	Het
Chd6	C	T	2: 160,832,191 (GRCm39)	E994K	probably damaging	Het
Col5a2	G	T	1: 45,415,931 (GRCm39)	N1405K	probably damaging	Het
Dnah7b	A	G	1: 46,379,426 (GRCm39)	D3720G	probably damaging	Het
Dsel	T	C	1: 111,789,939 (GRCm39)	T199A	possibly damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Flacc1	A	T	1: 58,708,622 (GRCm39)	Y215N	probably damaging	Het
Hrg	G	T	16: 22,779,754 (GRCm39)	C344F	probably damaging	Het
Htt	T	C	5: 35,008,596 (GRCm39)	Y1462H	probably damaging	Het
Kcnh2	T	A	5: 24,529,385 (GRCm39)	I784F	probably damaging	Het
Kifc3	T	C	8: 95,864,546 (GRCm39)	T55A	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Oog3	A	G	4: 143,884,982 (GRCm39)	F318S	possibly damaging	Het
Or2a20	A	T	6: 43,194,146 (GRCm39)	T100S	probably damaging	Het
Or52w1	G	A	7: 105,018,484 (GRCm39)	R308Q	probably benign	Het
Pde5a	C	T	3: 122,587,962 (GRCm39)	T376M	probably damaging	Het
Pkhd1l1	A	G	15: 44,400,837 (GRCm39)	I2204V	probably null	Het
Ppp1r13l	A	G	7: 19,109,772 (GRCm39)	D731G	probably damaging	Het
Ptk6	C	T	2: 180,837,590 (GRCm39)	G443D	probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Ptprs	T	C	17: 56,730,504 (GRCm39)	D749G	probably damaging	Het
Ralgapa1	A	T	12: 55,749,265 (GRCm39)	D1212E	probably damaging	Het
Rsad1	T	C	11: 94,434,966 (GRCm39)	Y290C	probably damaging	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,127,419 (GRCm39)		probably benign	Het
Slc6a11	T	A	6: 114,221,831 (GRCm39)	I507N	possibly damaging	Het
Sybu	A	T	15: 44,609,651 (GRCm39)	F78I	probably damaging	Het
Tox	A	T	4: 6,823,055 (GRCm39)	N87K	possibly damaging	Het
Trrap	G	A	5: 144,741,576 (GRCm39)	G1308R	probably damaging	Het
Trub2	A	G	2: 29,677,644 (GRCm39)		probably benign	Het
Vmn2r114	A	T	17: 23,530,037 (GRCm39)	H123Q	probably benign	Het
Vmn2r15	T	A	5: 109,441,072 (GRCm39)	Y262F	probably damaging	Het
Vmn2r33	C	T	7: 7,557,144 (GRCm39)	E519K	probably benign	Het
Zfp106	A	T	2: 120,351,017 (GRCm39)	C1545S	probably damaging	Het

Other mutations in Sp140l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4340:Sp140l1	UTSW	1	85,087,072 (GRCm39)	missense	probably damaging	0.99
PIT4131001:Sp140l1	UTSW	1	85,077,341 (GRCm39)	missense	probably benign	0.01
PIT4142001:Sp140l1	UTSW	1	85,077,341 (GRCm39)	missense	probably benign	0.01
R0602:Sp140l1	UTSW	1	85,077,226 (GRCm39)	missense	probably benign	0.00
R0831:Sp140l1	UTSW	1	85,077,226 (GRCm39)	missense	probably benign	0.00
R1852:Sp140l1	UTSW	1	85,062,852 (GRCm39)	unclassified	probably benign
R4277:Sp140l1	UTSW	1	85,066,521 (GRCm39)	intron	probably benign
R4385:Sp140l1	UTSW	1	85,087,057 (GRCm39)	critical splice donor site	probably null
R4391:Sp140l1	UTSW	1	85,062,852 (GRCm39)	unclassified	probably benign
R4691:Sp140l1	UTSW	1	85,066,521 (GRCm39)	intron	probably benign
R4863:Sp140l1	UTSW	1	85,066,521 (GRCm39)	intron	probably benign
R5173:Sp140l1	UTSW	1	85,078,288 (GRCm39)	nonsense	probably null
R5176:Sp140l1	UTSW	1	85,066,521 (GRCm39)	intron	probably benign
R8174:Sp140l1	UTSW	1	85,077,261 (GRCm39)	missense	probably damaging	1.00
R9606:Sp140l1	UTSW	1	85,075,344 (GRCm39)	splice site	probably null

Predicted Primers

Posted On

2014-01-15