Mutagenetix > Incidental Mutation

Incidental Mutation 'R4753:Rogdi'

357753

Institutional Source

Beutler Lab

Gene Symbol

Rogdi

Ensembl Gene

ENSMUSG00000022540

Gene Name

rogdi homolog

Synonyms

0610011C19Rik, Lzf

MMRRC Submission

041971-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.242) question?

Stock #

R4753 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4826594-4831417 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4828363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 189 (T189A)

Ref Sequence

ENSEMBL: ENSMUSP00000023191 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000023191
AA Change: T189A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023191
Gene: ENSMUSG00000022540
AA Change: T189A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090453
AA Change: T167A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000087938
Gene: ENSMUSG00000022540
AA Change: T167A

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

noncoding transcript
Transcript: ENSMUST00000202720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201118

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201726

Predicted Effect

possibly damaging
Transcript: ENSMUST00000202281
AA Change: T167A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000144481
Gene: ENSMUSG00000022540
AA Change: T167A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202998

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201651

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183821

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183631

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

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: 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: ENSMUST00000185147

SMART Domains

Protein: ENSMUSP00000139067
Gene: ENSMUSG00000096215

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

Meta Mutation Damage Score

0.4401

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.6%

Validation Efficiency

98% (57/58)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd55	T	A	13: 112,500,009 (GRCm39)	D257E	probably benign	Het
Arhgef18	T	C	8: 3,494,938 (GRCm39)	V399A	probably damaging	Het
Atp8b5	C	T	4: 43,372,710 (GRCm39)	P1117S	probably damaging	Het
Cd48	A	G	1: 171,527,156 (GRCm39)	Q194R	probably damaging	Het
Cdk13	G	A	13: 17,937,833 (GRCm39)	R737C	probably damaging	Het
Clasrp	A	T	7: 19,328,865 (GRCm39)	I89N	probably damaging	Het
Clrn1	G	T	3: 58,792,318 (GRCm39)	N48K	probably damaging	Het
Cntrl	T	A	2: 35,043,451 (GRCm39)	V1313E	possibly damaging	Het
Cyld	T	A	8: 89,471,444 (GRCm39)		probably null	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dtl	T	C	1: 191,301,815 (GRCm39)	T81A	probably damaging	Het
Dus1l	C	T	11: 120,682,901 (GRCm39)	E299K	probably benign	Het
E130114P18Rik	A	T	4: 97,463,129 (GRCm39)	D14E	possibly damaging	Het
Fam83g	C	A	11: 61,586,095 (GRCm39)	H228N	probably damaging	Het
Fhod3	A	T	18: 25,223,382 (GRCm39)	K909N	possibly damaging	Het
Fign	T	A	2: 63,809,363 (GRCm39)	I636L	probably benign	Het
Foxm1	A	G	6: 128,349,519 (GRCm39)	E346G	probably null	Het
Gcc2	T	C	10: 58,126,204 (GRCm39)	Y1271H	probably benign	Het
Gcn1	T	C	5: 115,754,537 (GRCm39)	V2379A	probably benign	Het
Grin2d	G	T	7: 45,483,330 (GRCm39)	P949Q	probably damaging	Het
Ighv1-43	C	A	12: 114,909,762 (GRCm39)	M53I	probably benign	Het
Itgad	A	G	7: 127,822,875 (GRCm39)	*97W	probably null	Het
Jade1	C	T	3: 41,551,106 (GRCm39)	R2*	probably null	Het
Lama3	G	T	18: 12,615,141 (GRCm39)	C1355F	probably damaging	Het
Map3k13	T	C	16: 21,710,752 (GRCm39)	S12P	probably benign	Het
Masp2	A	G	4: 148,696,608 (GRCm39)	T402A	probably benign	Het
Mill1	A	C	7: 17,996,472 (GRCm39)	K96T	probably benign	Het
Muc19	T	G	15: 91,761,955 (GRCm39)		noncoding transcript	Het
Muc5b	C	A	7: 141,410,590 (GRCm39)	T1321N	unknown	Het
Nfkb2	G	T	19: 46,296,006 (GRCm39)	E170D	probably benign	Het
Or1ad1	T	C	11: 50,875,978 (GRCm39)	V150A	probably benign	Het
Or1e35	T	A	11: 73,797,677 (GRCm39)	I214F	probably damaging	Het
Pdgfra	C	T	5: 75,342,185 (GRCm39)	P669S	probably damaging	Het
Procr	A	G	2: 155,595,384 (GRCm39)	N63D	probably damaging	Het
Prrc2c	A	G	1: 162,518,799 (GRCm39)	S2136P	probably damaging	Het
Rab11fip1	T	C	8: 27,642,769 (GRCm39)	M677V	probably benign	Het
Rad52	T	A	6: 119,889,946 (GRCm39)		probably benign	Het
Rasa1	A	G	13: 85,436,509 (GRCm39)		probably null	Het
Rph3al	G	A	11: 75,799,845 (GRCm39)	T38M	probably damaging	Het
Rps6ka2	T	A	17: 7,566,707 (GRCm39)	V655E	possibly damaging	Het
Sik3	T	C	9: 46,109,512 (GRCm39)	F499L	probably damaging	Het
Skint4	A	G	4: 112,003,728 (GRCm39)	N387S	probably benign	Het
Slc6a12	C	T	6: 121,333,862 (GRCm39)		probably benign	Het
Stk36	A	G	1: 74,665,255 (GRCm39)	T667A	probably benign	Het
Svep1	T	C	4: 58,053,212 (GRCm39)	I3378V	probably benign	Het
Thnsl1	C	T	2: 21,218,175 (GRCm39)	T122I	probably damaging	Het
Timeless	G	A	10: 128,075,889 (GRCm39)		probably benign	Het
Tnxb	G	A	17: 34,914,909 (GRCm39)	V1966I	possibly damaging	Het
Tril	A	G	6: 53,796,698 (GRCm39)	F175L	probably damaging	Het
Vav1	A	G	17: 57,613,140 (GRCm39)	Y604C	probably damaging	Het
Zfp423	T	A	8: 88,508,074 (GRCm39)	M736L	probably benign	Het
Zscan10	A	C	17: 23,826,208 (GRCm39)	E123D	probably damaging	Het

Other mutations in Rogdi

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02393:Rogdi	APN	16	4,827,088 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- CTGGCGGGAAACTGTGTTAAC -3'
(R):5'- TAAGCTTGTAGATTAGGCCTGG -3'

Sequencing Primer
(F):5'- AACTGTGTTAACATATTGGGGGAC -3'
(R):5'- CCATGGTCACCTGGCAAC -3'

Posted On

2015-11-11