Mutagenetix > Incidental Mutation

Incidental Mutation 'R4691:Sp140l1'

397138

Institutional Source

Beutler Lab

Gene Symbol

Sp140l1

Ensembl Gene

ENSMUSG00000089844

Gene Name

Sp140 nuclear body protein like 1

Synonyms

A530032D15Rik, LOC381287

MMRRC Submission

041942-MU

Accession Numbers

Essential gene?

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

Stock #

R4691 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

85065860-85088016 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 85066521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123750 (fasta)

Gene Model

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

AlphaFold

E9Q422

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159114

Predicted Effect

unknown
Transcript: ENSMUST00000160792
AA Change: S205N

SMART Domains

Protein: ENSMUSP00000125122
Gene: ENSMUSG00000089844
AA Change: S205N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161724

SMART Domains

Protein: ENSMUSP00000123750
Gene: ENSMUSG00000089844

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,384,195 (GRCm39)	R3882S	probably damaging	Het
Adamts2	G	T	11: 50,647,523 (GRCm39)	V299F	probably damaging	Het
Ankrd50	A	G	3: 38,537,159 (GRCm39)	S65P	probably benign	Het
Ap4e1	T	C	2: 126,903,791 (GRCm39)	C898R	probably benign	Het
Arel1	A	T	12: 84,977,023 (GRCm39)		probably null	Het
Bag6	T	A	17: 35,358,224 (GRCm39)	V164D	probably damaging	Het
C2cd5	A	G	6: 142,975,874 (GRCm39)	S769P	possibly damaging	Het
Cables1	C	T	18: 11,973,580 (GRCm39)	Q240*	probably null	Het
Ccnb1-ps	T	A	7: 41,755,516 (GRCm39)		noncoding transcript	Het
Ccz1	A	T	5: 143,928,380 (GRCm39)	I390N	possibly damaging	Het
Ceacam23	T	A	7: 17,642,891 (GRCm39)	S434T	possibly damaging	Het
Ces1a	T	C	8: 93,759,287 (GRCm39)	H283R	probably benign	Het
Clca3b	G	A	3: 144,544,853 (GRCm39)	T378I	probably benign	Het
Cpne2	A	T	8: 95,284,849 (GRCm39)	I342F	probably damaging	Het
Cyp2d9	A	G	15: 82,340,033 (GRCm39)	D141G	probably damaging	Het
Ddias	T	A	7: 92,508,024 (GRCm39)	K630N	probably damaging	Het
Dennd4b	A	G	3: 90,179,619 (GRCm39)	T626A	probably damaging	Het
Disc1	T	C	8: 125,875,186 (GRCm39)	V554A	possibly damaging	Het
Dnah10	A	G	5: 124,852,581 (GRCm39)	T1880A	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Epop	C	T	11: 97,519,719 (GRCm39)	G130D	possibly damaging	Het
Erap1	T	C	13: 74,821,811 (GRCm39)	L722P	probably damaging	Het
Eya4	T	A	10: 23,015,966 (GRCm39)	T334S	probably benign	Het
Ezr	T	C	17: 7,026,961 (GRCm39)	I5V	probably benign	Het
Fam53c	A	C	18: 34,901,743 (GRCm39)	E220A	probably damaging	Het
Galnt12	T	C	4: 47,104,143 (GRCm39)	S134P	probably damaging	Het
Gcfc2	T	A	6: 81,918,408 (GRCm39)	L366*	probably null	Het
Gins4	T	A	8: 23,727,075 (GRCm39)	D6V	probably benign	Het
Grid1	A	G	14: 35,291,514 (GRCm39)	H807R	probably benign	Het
H2-T22	GTTTT	GTTT	17: 36,352,462 (GRCm39)		probably null	Het
Ighv1-66	T	C	12: 115,556,929 (GRCm39)	Y51C	probably benign	Het
Inpp4b	A	T	8: 82,849,282 (GRCm39)	Y901F	probably damaging	Het
Irf2	T	A	8: 47,299,222 (GRCm39)	S339T	probably damaging	Het
Itgae	G	T	11: 73,010,345 (GRCm39)	G612*	probably null	Het
Kdr	T	C	5: 76,105,259 (GRCm39)	K1037R	possibly damaging	Het
Mro	A	T	18: 74,006,397 (GRCm39)	M115L	probably benign	Het
Myo5a	A	G	9: 75,087,438 (GRCm39)	E1098G	probably damaging	Het
Nkx2-1	T	A	12: 56,580,350 (GRCm39)	M197L	probably benign	Het
Or7e165	T	C	9: 19,694,678 (GRCm39)	I83T	probably benign	Het
Pank2	T	A	2: 131,138,201 (GRCm39)	F430L	possibly damaging	Het
Pcx	T	A	19: 4,669,505 (GRCm39)	V794E	probably damaging	Het
Pdgfd	C	T	9: 6,288,556 (GRCm39)	P70L	probably damaging	Het
Pla2g4e	T	C	2: 120,004,781 (GRCm39)	Y521C	probably damaging	Het
Pou5f1	T	A	17: 35,817,028 (GRCm39)	F11Y	probably damaging	Het
Prdm9	A	G	17: 15,773,640 (GRCm39)	M252T	probably benign	Het
Ptk2b	C	T	14: 66,394,518 (GRCm39)	G859S	probably benign	Het
Rad51ap1	A	G	6: 126,904,516 (GRCm39)	S123P	probably benign	Het
Robo3	T	C	9: 37,336,514 (GRCm39)	E418G	probably damaging	Het
Sos2	C	T	12: 69,663,102 (GRCm39)	R631H	probably damaging	Het
St3gal2	C	T	8: 111,684,417 (GRCm39)	T25I	probably benign	Het
Stra6l	G	A	4: 45,882,851 (GRCm39)	A521T	probably benign	Het
Syt7	T	A	19: 10,403,845 (GRCm39)	L177Q	probably damaging	Het
Tet2	T	A	3: 133,191,844 (GRCm39)	Q863H	possibly damaging	Het
Tmem232	T	C	17: 65,572,237 (GRCm39)	K585E	possibly damaging	Het
Trpc6	A	C	9: 8,652,979 (GRCm39)	E595A	probably damaging	Het
Txnl1	A	G	18: 63,804,750 (GRCm39)	V248A	possibly damaging	Het
Vmn2r72	A	T	7: 85,387,119 (GRCm39)	L815*	probably null	Het
Vmn2r81	C	T	10: 79,129,211 (GRCm39)	Q701*	probably null	Het
Vps13c	T	C	9: 67,860,217 (GRCm39)	V2811A	possibly damaging	Het
Vsig10l2	T	C	9: 35,428,158 (GRCm39)	S106G	possibly damaging	Het
Zfp354a	A	G	11: 50,961,064 (GRCm39)	E425G	probably damaging	Het
Zfp617	A	T	8: 72,686,659 (GRCm39)	T330S	probably benign	Het
Zfp663	G	T	2: 165,201,050 (GRCm39)		probably benign	Het
Zfp84	T	C	7: 29,476,505 (GRCm39)	L399P	probably damaging	Het
Zfp869	A	T	8: 70,159,513 (GRCm39)	C353*	probably null	Het
Zscan22	C	T	7: 12,640,488 (GRCm39)	A85V	probably benign	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
R1147: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
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

PCR Primer
(F):5'- TTCCTGCTGAGTCCTCACTGAG -3'
(R):5'- TTTCTCAGAACATACCCCACTGG -3'

Sequencing Primer
(F):5'- GAGTCTTTCAAATCCCGTCACAG -3'
(R):5'- CCCCACTGGTAAGCAATGGATG -3'

Posted On

2016-06-24