Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01087:Rsl1d1'

52905

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rsl1d1

Ensembl Gene

ENSMUSG00000005846

Gene Name

ribosomal L1 domain containing 1

Synonyms

2410005K20Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.945) question?

Stock #

IGL01087

Quality Score

Status

Chromosome

Chromosomal Location

11010901-11021156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11012539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 296 (K296E)

Ref Sequence

ENSEMBL: ENSMUSP00000113431 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119953] [ENSMUST00000230002]

AlphaFold

Q8BVY0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119953
AA Change: K296E

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113431
Gene: ENSMUSG00000005846
AA Change: K296E

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
Pfam:Ribosomal_L1	36	259	2.3e-52	PFAM
coiled coil region	281	313	N/A	INTRINSIC
low complexity region	331	342	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121027

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181206

Predicted Effect

unknown
Transcript: ENSMUST00000230002
AA Change: K180E

Predicted Effect

probably benign
Transcript: ENSMUST00000230232

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	T	6: 83,139,770 (GRCm39)		probably null	Het
Abca6	C	A	11: 110,082,476 (GRCm39)	A1166S	probably benign	Het
Arhgdib	C	A	6: 136,910,622 (GRCm39)	K46N	probably damaging	Het
Ash1l	T	A	3: 88,971,209 (GRCm39)	V2507D	probably damaging	Het
B4galnt1	A	T	10: 127,002,060 (GRCm39)	I63F	probably damaging	Het
Bclaf1	A	G	10: 20,201,056 (GRCm39)	D394G	probably damaging	Het
Btbd10	T	C	7: 112,915,763 (GRCm39)	D442G	probably damaging	Het
Cd44	A	T	2: 102,652,607 (GRCm39)	L492H	probably damaging	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Chsy1	T	G	7: 65,821,874 (GRCm39)	V703G	possibly damaging	Het
Clrn2	T	C	5: 45,621,311 (GRCm39)		probably benign	Het
Crtc3	T	C	7: 80,248,487 (GRCm39)		probably benign	Het
Cul1	A	G	6: 47,485,978 (GRCm39)	T342A	probably benign	Het
Dgki	T	C	6: 36,989,846 (GRCm39)	D631G	probably damaging	Het
Eif3b	T	C	5: 140,426,862 (GRCm39)	I706T	probably damaging	Het
Fam120a	A	G	13: 49,055,549 (GRCm39)	L713P	probably damaging	Het
I830077J02Rik	C	A	3: 105,836,049 (GRCm39)		probably null	Het
Jmjd8	A	C	17: 26,048,145 (GRCm39)		probably benign	Het
Kmt5a	T	C	5: 124,589,443 (GRCm39)		probably benign	Het
Krt87	C	A	15: 101,329,706 (GRCm39)	C486F	probably benign	Het
Lrp2	A	T	2: 69,354,417 (GRCm39)	N470K	probably damaging	Het
Med1	C	A	11: 98,071,111 (GRCm39)	D79Y	probably damaging	Het
Myo1d	A	G	11: 80,573,261 (GRCm39)	S189P	probably damaging	Het
Myo9a	T	A	9: 59,697,361 (GRCm39)	Y381N	possibly damaging	Het
Nipbl	C	A	15: 8,379,981 (GRCm39)	S937I	possibly damaging	Het
Nlrp4g	A	G	9: 124,353,858 (GRCm38)		noncoding transcript	Het
Nutm2	A	G	13: 50,623,665 (GRCm39)	T121A	probably damaging	Het
Opa1	C	T	16: 29,405,815 (GRCm39)	P127S	probably damaging	Het
Or2h1b	C	T	17: 37,462,332 (GRCm39)	C177Y	probably damaging	Het
Pcdh15	A	T	10: 74,178,464 (GRCm39)	I574F	possibly damaging	Het
Pcnx1	G	A	12: 82,042,113 (GRCm39)		probably benign	Het
Prex2	A	G	1: 11,138,328 (GRCm39)	T136A	probably benign	Het
Prph2	A	G	17: 47,222,085 (GRCm39)	T155A	probably damaging	Het
Syne1	A	T	10: 5,375,708 (GRCm39)	I128N	probably damaging	Het
Tlk1	A	T	2: 70,582,660 (GRCm39)	N156K	possibly damaging	Het
Trem2	C	T	17: 48,658,956 (GRCm39)	T222I	probably damaging	Het
Trip12	A	T	1: 84,735,580 (GRCm39)	F872L	probably damaging	Het
Trrap	T	A	5: 144,783,349 (GRCm39)	S3393T	probably damaging	Het
Vwa8	T	A	14: 79,172,669 (GRCm39)	S304T	probably benign	Het
Zc3h7a	T	C	16: 10,971,046 (GRCm39)	T328A	probably benign	Het

Other mutations in Rsl1d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Rsl1d1	APN	16	11,017,558 (GRCm39)	missense	probably damaging	1.00
IGL01998:Rsl1d1	APN	16	11,012,509 (GRCm39)	missense	possibly damaging	0.79
IGL02077:Rsl1d1	APN	16	11,012,320 (GRCm39)	unclassified	probably benign
IGL02627:Rsl1d1	APN	16	11,012,415 (GRCm39)	missense	possibly damaging	0.48
R0925:Rsl1d1	UTSW	16	11,017,553 (GRCm39)	missense	probably damaging	1.00
R1017:Rsl1d1	UTSW	16	11,021,116 (GRCm39)	missense	probably benign
R1671:Rsl1d1	UTSW	16	11,019,245 (GRCm39)	missense	probably damaging	1.00
R4658:Rsl1d1	UTSW	16	11,019,238 (GRCm39)	missense	probably damaging	1.00
R4915:Rsl1d1	UTSW	16	11,017,593 (GRCm39)	splice site	probably null
R5265:Rsl1d1	UTSW	16	11,019,248 (GRCm39)	missense	possibly damaging	0.82
R5545:Rsl1d1	UTSW	16	11,017,514 (GRCm39)	missense	probably damaging	0.99
R6221:Rsl1d1	UTSW	16	11,019,175 (GRCm39)	missense	probably damaging	0.99
R6970:Rsl1d1	UTSW	16	11,011,558 (GRCm39)	missense	probably benign	0.06
R7852:Rsl1d1	UTSW	16	11,021,098 (GRCm39)	missense	probably benign
R7919:Rsl1d1	UTSW	16	11,020,297 (GRCm39)	missense	probably benign	0.18
R8754:Rsl1d1	UTSW	16	11,017,512 (GRCm39)	missense	probably damaging	0.99
R9098:Rsl1d1	UTSW	16	11,019,227 (GRCm39)	missense	probably damaging	1.00
R9500:Rsl1d1	UTSW	16	11,011,385 (GRCm39)	missense	possibly damaging	0.71
R9792:Rsl1d1	UTSW	16	11,017,300 (GRCm39)	missense	possibly damaging	0.57
R9793:Rsl1d1	UTSW	16	11,017,300 (GRCm39)	missense	possibly damaging	0.57
Z1088:Rsl1d1	UTSW	16	11,020,249 (GRCm39)	missense	possibly damaging	0.93

Posted On

2013-06-21