Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01290:1700020L24Rik'

72888

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1700020L24Rik

Ensembl Gene

ENSMUSG00000035085

Gene Name

RIKEN cDNA 1700020L24 gene

Synonyms

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.618) question?

Stock #

IGL01290

Quality Score

Status

Chromosome

Chromosomal Location

83328520-83332058 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83331621 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 148 (H148R)

Ref Sequence

ENSEMBL: ENSMUSP00000042098 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021020] [ENSMUST00000037378] [ENSMUST00000103209] [ENSMUST00000108137] [ENSMUST00000119346] [ENSMUST00000188702]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021020

SMART Domains

Protein: ENSMUSP00000021020
Gene: ENSMUSG00000020682

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:PG_binding_1	31	86	1e-11	PFAM
low complexity region	114	125	N/A	INTRINSIC
ZnMc	126	285	3.92e-39	SMART
HX	328	361	7.46e0	SMART
HX	363	406	1.64e-1	SMART
HX	408	454	1.78e-2	SMART
HX	456	500	5.79e-2	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037378
AA Change: H148R

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000042098
Gene: ENSMUSG00000035085
AA Change: H148R

Domain	Start	End	E-Value	Type
Pfam:DUF4637	5	169	1.3e-89	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103209

SMART Domains

Protein: ENSMUSP00000099498
Gene: ENSMUSG00000020682

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:PG_binding_1	31	86	9.7e-12	PFAM
low complexity region	114	125	N/A	INTRINSIC
ZnMc	126	285	3.92e-39	SMART
HX	349	392	1.64e-1	SMART
HX	394	440	1.78e-2	SMART
HX	442	486	5.79e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108137

SMART Domains

Protein: ENSMUSP00000103772
Gene: ENSMUSG00000020682

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:PG_binding_1	31	86	2.6e-11	PFAM
low complexity region	114	125	N/A	INTRINSIC
ZnMc	126	285	3.92e-39	SMART
HX	328	371	2.72e-7	SMART
HX	373	416	1.64e-1	SMART
HX	418	464	1.78e-2	SMART
HX	466	510	5.79e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119346

SMART Domains

Protein: ENSMUSP00000112566
Gene: ENSMUSG00000020682

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:PG_binding_1	31	86	7.4e-12	PFAM
low complexity region	114	125	N/A	INTRINSIC
ZnMc	126	285	3.92e-39	SMART
HX	328	371	2.72e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188702

SMART Domains

Protein: ENSMUSP00000140664
Gene: ENSMUSG00000035085

Domain	Start	End	E-Value	Type
Pfam:DUF4637	6	111	2.8e-48	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,206,232 (GRCm39)	H177Q	probably damaging	Het
Adamts18	T	A	8: 114,501,575 (GRCm39)	E349D	probably damaging	Het
Cers5	G	A	15: 99,637,536 (GRCm39)	R190*	probably null	Het
Cntnap2	C	T	6: 45,992,399 (GRCm39)	T442I	probably benign	Het
Col14a1	C	T	15: 55,286,903 (GRCm39)	A908V	unknown	Het
Ctnna2	T	C	6: 76,859,543 (GRCm39)	D951G	possibly damaging	Het
Dock3	T	C	9: 106,835,599 (GRCm39)		probably benign	Het
Enpp2	T	C	15: 54,782,998 (GRCm39)	T106A	possibly damaging	Het
Fscn3	T	C	6: 28,430,505 (GRCm39)	V225A	probably benign	Het
Ftmt	A	G	18: 52,465,185 (GRCm39)	N167S	probably damaging	Het
Gnal	A	G	18: 67,344,169 (GRCm39)	D181G	probably damaging	Het
Gxylt2	A	G	6: 100,727,408 (GRCm39)	Y174C	probably damaging	Het
Hgf	G	A	5: 16,809,844 (GRCm39)	D445N	probably damaging	Het
Hoxb8	A	G	11: 96,175,093 (GRCm39)	I176V	possibly damaging	Het
Itgbl1	A	T	14: 124,204,137 (GRCm39)	E285D	probably benign	Het
Megf8	C	T	7: 25,049,083 (GRCm39)	R1727*	probably null	Het
Nrap	T	C	19: 56,350,180 (GRCm39)	D611G	probably damaging	Het
Nudt19	A	G	7: 35,247,501 (GRCm39)	S303P	probably damaging	Het
Rhcg	A	G	7: 79,248,342 (GRCm39)	F421L	probably benign	Het
Ripk2	T	C	4: 16,139,198 (GRCm39)		probably benign	Het
Rnf139	A	G	15: 58,770,175 (GRCm39)	I67V	probably benign	Het
Smarca5	A	G	8: 81,454,277 (GRCm39)	S256P	probably benign	Het
Sun3	C	T	11: 8,973,341 (GRCm39)	G119S	possibly damaging	Het
Tlr12	A	C	4: 128,511,630 (GRCm39)	S207A	probably damaging	Het
Uhrf2	T	A	19: 30,016,701 (GRCm39)		probably benign	Het
Zdhhc16	T	A	19: 41,926,487 (GRCm39)		probably null	Het

Other mutations in 1700020L24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4280001:1700020L24Rik	UTSW	11	83,331,660 (GRCm39)	missense	probably damaging	1.00
R1523:1700020L24Rik	UTSW	11	83,331,232 (GRCm39)	nonsense	probably null
R1939:1700020L24Rik	UTSW	11	83,331,130 (GRCm39)	missense	probably damaging	1.00
R2118:1700020L24Rik	UTSW	11	83,331,190 (GRCm39)	missense	possibly damaging	0.84
R2386:1700020L24Rik	UTSW	11	83,328,575 (GRCm39)	missense	probably damaging	1.00
R7088:1700020L24Rik	UTSW	11	83,331,232 (GRCm39)	nonsense	probably null
R8799:1700020L24Rik	UTSW	11	83,331,578 (GRCm39)	missense	probably damaging	1.00
Z1088:1700020L24Rik	UTSW	11	83,331,332 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07