Mutagenetix > Incidental Mutation

Incidental Mutation 'R2973:Rogdi'

255300

Institutional Source

Beutler Lab

Gene Symbol

Rogdi

Ensembl Gene

ENSMUSG00000022540

Gene Name

rogdi homolog

Synonyms

0610011C19Rik, Lzf

MMRRC Submission

040526-MU

Accession Numbers

Essential gene?

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

Stock #

R2973 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4826594-4831417 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 4829526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 90 (Q90K)

Ref Sequence

ENSEMBL: ENSMUSP00000144166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023189] [ENSMUST00000023191] [ENSMUST00000090453] [ENSMUST00000115844] [ENSMUST00000178155] [ENSMUST00000201077] [ENSMUST00000202281] [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: Q118K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023191
Gene: ENSMUSG00000022540
AA Change: Q118K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000090453
AA Change: Q96K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000087938
Gene: ENSMUSG00000022540
AA Change: Q96K

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 damaging
Transcript: ENSMUST00000201077
AA Change: Q90K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144166
Gene: ENSMUSG00000022540
AA Change: Q90K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201118

Predicted Effect

probably damaging
Transcript: ENSMUST00000202281
AA Change: Q96K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000144481
Gene: ENSMUSG00000022540
AA Change: Q96K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201726

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202998

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183821

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201651

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

0.4555

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (44/45)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	G	10: 79,844,801 (GRCm39)	F1508V	probably damaging	Het
Angptl7	T	A	4: 148,584,671 (GRCm39)	K26*	probably null	Het
Aoc1l1	A	G	6: 48,953,358 (GRCm39)	T428A	probably benign	Het
BC048507	T	C	13: 68,011,749 (GRCm39)	I42T	probably benign	Het
Cald1	A	G	6: 34,734,931 (GRCm39)		probably benign	Het
Ces5a	A	G	8: 94,255,132 (GRCm39)	F187S	probably damaging	Het
Chd3	A	G	11: 69,251,442 (GRCm39)	Y530H	probably damaging	Het
Crnkl1	A	G	2: 145,774,181 (GRCm39)	L94P	probably benign	Het
Cst9	G	T	2: 148,677,145 (GRCm39)		probably null	Het
Cstdc2	T	C	2: 148,692,706 (GRCm39)	D32G	probably benign	Het
D930007J09Rik	C	T	13: 32,986,742 (GRCm39)		probably benign	Het
Dcaf10	T	C	4: 45,373,957 (GRCm39)	S461P	probably benign	Het
Dhx36	T	A	3: 62,402,916 (GRCm39)	N279Y	probably benign	Het
Dhx36	C	G	3: 62,402,919 (GRCm39)	G278R	possibly damaging	Het
Eps8l3	T	C	3: 107,798,644 (GRCm39)	I510T	probably damaging	Het
Gab2	A	G	7: 96,872,759 (GRCm39)	E54G	probably benign	Het
Gsdme	A	G	6: 50,206,304 (GRCm39)	C180R	probably damaging	Het
Hesx1	A	G	14: 26,722,599 (GRCm39)		probably benign	Het
Il5ra	G	A	6: 106,718,196 (GRCm39)	P86L	probably benign	Het
Jakmip1	A	G	5: 37,248,871 (GRCm39)	K177R	probably damaging	Het
Larp4b	T	C	13: 9,216,347 (GRCm39)		probably benign	Het
Lrrc42	A	T	4: 107,096,311 (GRCm39)	D40E	probably damaging	Het
Mefv	G	A	16: 3,533,558 (GRCm39)	R238*	probably null	Het
Mroh9	A	T	1: 162,884,338 (GRCm39)	M400K	probably damaging	Het
Or12j2	T	G	7: 139,916,300 (GRCm39)	F175C	probably damaging	Het
Or5ac22	A	C	16: 59,135,767 (GRCm39)	M1R	probably null	Het
Or5d37	A	G	2: 87,923,458 (GRCm39)	L274P	probably benign	Het
Plec	C	G	15: 76,072,961 (GRCm39)	G631R	probably damaging	Het
Polr3b	A	G	10: 84,464,144 (GRCm39)	K35E	probably benign	Het
Ppef2	T	C	5: 92,386,953 (GRCm39)	E328G	probably benign	Het
Rtn1	C	A	12: 72,270,163 (GRCm39)	R116L	probably damaging	Het
Septin14	T	C	5: 129,776,086 (GRCm39)	H31R	probably benign	Het
Serpinb9e	T	A	13: 33,439,126 (GRCm39)	V184E	probably benign	Het
Slc10a5	A	T	3: 10,399,517 (GRCm39)	I381N	probably damaging	Het
Slit1	G	A	19: 41,599,455 (GRCm39)	P1032L	probably benign	Het
Sptlc3	A	G	2: 139,431,581 (GRCm39)	T368A	probably damaging	Het
Tm9sf1	T	A	14: 55,878,571 (GRCm39)	T274S	probably benign	Het
Tpgs1	A	G	10: 79,505,449 (GRCm39)	E69G	probably damaging	Het
Trpv5	T	C	6: 41,630,165 (GRCm39)	S642G	possibly damaging	Het
Ttn	A	C	2: 76,632,661 (GRCm39)	I12385S	probably damaging	Het
Ube2e2	T	C	14: 18,630,321 (GRCm38)	D137G	possibly damaging	Het
Ubr4	T	C	4: 139,133,847 (GRCm39)	Y748H	probably benign	Het
Ugt8a	T	C	3: 125,708,957 (GRCm39)	H51R	probably benign	Het
Vcp	T	A	4: 42,996,315 (GRCm39)	I16F	probably damaging	Het
Vmn2r117	A	G	17: 23,678,830 (GRCm39)	V798A	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
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

Predicted Primers

PCR Primer
(F):5'- TAGGGCTGGTTTCACATCCC -3'
(R):5'- AGTTGAATGAGCCACCACCC -3'

Sequencing Primer
(F):5'- ATCCCTAATGTGGAGCAGACTCTG -3'
(R):5'- CTCTGATCTAAGGCCTCAAAGG -3'

Posted On

2014-12-29