Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02393:Rogdi'

293899

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rogdi

Ensembl Gene

ENSMUSG00000022540

Gene Name

rogdi homolog

Synonyms

0610011C19Rik, Lzf

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.257) question?

Stock #

IGL02393

Quality Score

Status

Chromosome

Chromosomal Location

4826594-4831417 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4827088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 306 (S306F)

Ref Sequence

ENSEMBL: ENSMUSP00000023191 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023189] [ENSMUST00000023191] [ENSMUST00000090453] [ENSMUST00000115844] [ENSMUST00000178155] [ENSMUST00000202281] [ENSMUST00000184439] [ENSMUST00000184256] [ENSMUST00000185147] [ENSMUST00000201077]

AlphaFold

Q3TDK6

Predicted Effect

probably benign
Transcript: ENSMUST00000023189

SMART Domains

Protein: ENSMUSP00000023189
Gene: ENSMUSG00000022536

Domain	Start	End	E-Value	Type
Pfam:PWWP	6	89	1.4e-24	PFAM
low complexity region	109	122	N/A	INTRINSIC
AT_hook	167	179	3.21e-1	SMART
Pfam:NAD_binding_2	266	422	1.2e-36	PFAM
Pfam:F420_oxidored	268	355	2e-6	PFAM
Pfam:NAD_binding_11	423	544	2.7e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000023191
AA Change: S306F

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

SMART Domains

Protein: ENSMUSP00000023191
Gene: ENSMUSG00000022540
AA Change: S306F

Domain	Start	End	E-Value	Type
Pfam:Rogdi_lz	18	298	9.7e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090453

SMART Domains

Protein: ENSMUSP00000087938
Gene: ENSMUSG00000022540

Domain	Start	End	E-Value	Type
Pfam:Rogdi_lz	18	210	1.2e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115844

SMART Domains

Protein: ENSMUSP00000111510
Gene: ENSMUSG00000022536

Domain	Start	End	E-Value	Type
Pfam:PWWP	6	89	1.8e-24	PFAM
low complexity region	109	122	N/A	INTRINSIC
AT_hook	167	179	3.21e-1	SMART
Pfam:NAD_binding_2	266	428	2.6e-41	PFAM
Pfam:F420_oxidored	268	361	3.2e-9	PFAM
Pfam:NAD_binding_11	429	550	3.4e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178155

SMART Domains

Protein: ENSMUSP00000137083
Gene: ENSMUSG00000096215

Domain	Start	End	E-Value	Type
Pfam:DUF4713	10	65	5.1e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183381

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183477

Predicted Effect

probably benign
Transcript: ENSMUST00000202281
AA Change: S284F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000144481
Gene: ENSMUSG00000022540
AA Change: S284F

Domain	Start	End	E-Value	Type
Pfam:Rogdi_lz	18	276	4.4e-49	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201726

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202998

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183821

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201118

Predicted Effect

probably benign
Transcript: ENSMUST00000184439

SMART Domains

Protein: ENSMUSP00000139370
Gene: ENSMUSG00000096215

Domain	Start	End	E-Value	Type
transmembrane domain	35	57	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000184256

SMART Domains

Protein: ENSMUSP00000138990
Gene: ENSMUSG00000096215

Domain	Start	End	E-Value	Type
transmembrane domain	12	34	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000185147

SMART Domains

Protein: ENSMUSP00000139067
Gene: ENSMUSG00000096215

Domain	Start	End	E-Value	Type
transmembrane domain	35	57	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000201077

SMART Domains

Protein: ENSMUSP00000144166
Gene: ENSMUSG00000022540

Domain	Start	End	E-Value	Type
Pfam:Rogdi_lz	12	134	7.7e-23	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein of unknown function. Loss-of-function mutation in this gene cause Kohlschutter-Tonz syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	T	8: 25,410,069 (GRCm39)	Y129N	probably damaging	Het
Afap1l2	T	C	19: 56,902,872 (GRCm39)	K695R	probably damaging	Het
Arhgap18	T	G	10: 26,753,179 (GRCm39)	S357R	probably benign	Het
Camsap1	T	C	2: 25,828,334 (GRCm39)	H1130R	probably benign	Het
Cdkl4	A	G	17: 80,867,844 (GRCm39)	F35L	probably damaging	Het
Crnn	A	G	3: 93,056,675 (GRCm39)	H487R	probably damaging	Het
Dcaf4	C	T	12: 83,576,805 (GRCm39)	P95L	probably damaging	Het
Deaf1	A	T	7: 140,893,246 (GRCm39)	V382E	possibly damaging	Het
Dph7	T	G	2: 24,856,609 (GRCm39)	V187G	possibly damaging	Het
Fat3	G	T	9: 15,899,708 (GRCm39)	C3108*	probably null	Het
Ggt5	T	C	10: 75,446,071 (GRCm39)		probably benign	Het
Kif26a	G	A	12: 112,139,098 (GRCm39)	V396M	probably damaging	Het
Med17	G	A	9: 15,188,963 (GRCm39)	R101*	probably null	Het
Mterf4	C	T	1: 93,230,601 (GRCm39)	V182I	possibly damaging	Het
Nsg1	T	C	5: 38,316,255 (GRCm39)	D32G	probably damaging	Het
Or5k8	A	G	16: 58,644,409 (GRCm39)	I221T	probably damaging	Het
Or6c3	T	C	10: 129,309,064 (GRCm39)	S168P	probably damaging	Het
Or6c65	T	A	10: 129,603,662 (GRCm39)	V99E	probably benign	Het
P3h2	T	C	16: 25,811,575 (GRCm39)	Y216C	probably damaging	Het
Pdzd9	A	C	7: 120,262,206 (GRCm39)	Y85*	probably null	Het
Prkdc	T	A	16: 15,634,622 (GRCm39)	V3589D	probably benign	Het
Qars1	A	G	9: 108,391,528 (GRCm39)	T26A	probably benign	Het
Relch	A	G	1: 105,615,093 (GRCm39)	I253M	probably damaging	Het
Rhd	T	C	4: 134,611,406 (GRCm39)	S189P	probably benign	Het
Rhobtb1	A	T	10: 69,124,817 (GRCm39)	H555L	probably damaging	Het
Slc25a25	C	T	2: 32,307,855 (GRCm39)	V259I	probably benign	Het
Srrm1	A	T	4: 135,048,725 (GRCm39)		probably benign	Het
Stkld1	T	C	2: 26,840,154 (GRCm39)	V408A	probably benign	Het
Thbs1	T	C	2: 117,953,580 (GRCm39)	V999A	possibly damaging	Het
Tmprss11d	T	A	5: 86,451,471 (GRCm39)	*280L	probably null	Het
Trim54	A	G	5: 31,289,324 (GRCm39)		probably benign	Het
Tspear	G	A	10: 77,672,407 (GRCm39)	R202H	probably damaging	Het
Vwa8	G	A	14: 79,420,417 (GRCm39)	G1706D	probably damaging	Het

Other mutations in Rogdi

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1778:Rogdi	UTSW	16	4,828,369 (GRCm39)	missense	probably benign	0.38
R2973:Rogdi	UTSW	16	4,829,526 (GRCm39)	missense	probably damaging	1.00
R2974:Rogdi	UTSW	16	4,829,526 (GRCm39)	missense	probably damaging	1.00
R4753:Rogdi	UTSW	16	4,828,363 (GRCm39)	missense	probably damaging	0.99
R5340:Rogdi	UTSW	16	4,831,225 (GRCm39)	missense	probably benign	0.32
R5893:Rogdi	UTSW	16	4,831,258 (GRCm39)	nonsense	probably null
R5976:Rogdi	UTSW	16	4,831,175 (GRCm39)	missense	probably benign	0.11
R6341:Rogdi	UTSW	16	4,831,241 (GRCm39)	splice site	probably null
R7069:Rogdi	UTSW	16	4,831,362 (GRCm39)	unclassified	probably benign
R7709:Rogdi	UTSW	16	4,827,098 (GRCm39)	missense	probably damaging	1.00
R8170:Rogdi	UTSW	16	4,829,601 (GRCm39)	missense	probably benign
R8313:Rogdi	UTSW	16	4,831,313 (GRCm39)	splice site	probably benign

Posted On

2015-04-16