Mutagenetix > Incidental Mutation

Incidental Mutation 'R0066:Rabepk'

41039

Institutional Source

Beutler Lab

Gene Symbol

Rabepk

Ensembl Gene

ENSMUSG00000070953

Gene Name

Rab9 effector protein with kelch motifs

Synonyms

8430412M01Rik, 9530020D24Rik

MMRRC Submission

038357-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R0066 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34667568-34689924 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34685318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 26 (D26G)

Ref Sequence

ENSEMBL: ENSMUSP00000113099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113086] [ENSMUST00000118108] [ENSMUST00000140663] [ENSMUST00000141099] [ENSMUST00000145903]

AlphaFold

Q8VCH5

Predicted Effect

probably benign
Transcript: ENSMUST00000047963

SMART Domains

Protein: ENSMUSP00000037746
Gene: ENSMUSG00000070953

Domain	Start	End	E-Value	Type
Pfam:Kelch_2	5	51	6.7e-13	PFAM
Pfam:Kelch_4	5	58	2e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113086
AA Change: D26G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000108709
Gene: ENSMUSG00000070953
AA Change: D26G

Domain	Start	End	E-Value	Type
Pfam:Kelch_2	30	82	5e-15	PFAM
Pfam:Kelch_4	30	86	6.7e-10	PFAM
Pfam:Kelch_3	47	96	1e-12	PFAM
Pfam:Kelch_4	87	140	4.6e-7	PFAM
Pfam:Kelch_3	98	150	1.6e-9	PFAM
Pfam:Kelch_5	138	174	6.2e-8	PFAM
Pfam:Kelch_1	141	186	8.3e-7	PFAM
Pfam:Kelch_4	141	190	2.3e-10	PFAM
Pfam:Kelch_6	141	190	4.1e-10	PFAM
Pfam:Kelch_3	151	200	3.5e-8	PFAM
Pfam:Kelch_5	188	225	1.8e-7	PFAM
Pfam:Kelch_1	191	233	2.8e-9	PFAM
Pfam:Kelch_4	193	240	9.4e-9	PFAM
Pfam:Kelch_3	201	250	6.7e-7	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118108
AA Change: D26G

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113099
Gene: ENSMUSG00000070953
AA Change: D26G

Domain	Start	End	E-Value	Type
Pfam:Kelch_2	30	82	2.8e-16	PFAM
Pfam:Kelch_4	30	82	3.7e-6	PFAM
Pfam:Kelch_3	99	147	8.2e-9	PFAM
Pfam:Kelch_4	138	191	2.7e-6	PFAM
Pfam:Kelch_3	149	201	7.9e-9	PFAM
Pfam:Kelch_5	189	225	2.8e-7	PFAM
Pfam:Kelch_1	192	237	5.2e-6	PFAM
Pfam:Kelch_4	192	241	1.3e-9	PFAM
Pfam:Kelch_6	192	241	2.4e-9	PFAM
Pfam:Kelch_3	202	251	1.7e-7	PFAM
Pfam:Kelch_5	239	276	8.1e-7	PFAM
Pfam:Kelch_1	242	284	1.8e-8	PFAM
Pfam:Kelch_4	244	291	5.5e-8	PFAM
Pfam:Kelch_3	252	301	3.2e-6	PFAM

Predicted Effect

silent
Transcript: ENSMUST00000140663

Predicted Effect

probably benign
Transcript: ENSMUST00000141099

SMART Domains

Protein: ENSMUSP00000120887
Gene: ENSMUSG00000070953

Domain	Start	End	E-Value	Type
low complexity region	49	54	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144113

Predicted Effect

probably benign
Transcript: ENSMUST00000145903
AA Change: D34G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000122360
Gene: ENSMUSG00000070953
AA Change: D34G

Domain	Start	End	E-Value	Type
Pfam:Kelch_2	38	90	1.5e-17	PFAM
Pfam:Kelch_4	38	90	2.2e-7	PFAM
Pfam:Kelch_1	55	87	4.5e-7	PFAM
Pfam:Kelch_3	107	155	7e-10	PFAM
Pfam:Kelch_4	146	199	4e-7	PFAM
Pfam:Kelch_3	157	209	1.5e-10	PFAM
Pfam:Kelch_5	197	231	1e-8	PFAM
Pfam:Kelch_4	200	249	3.4e-9	PFAM
Pfam:Kelch_5	247	284	5.1e-8	PFAM
Pfam:Kelch_1	250	292	2.9e-9	PFAM
Pfam:Kelch_6	250	301	1.2e-8	PFAM

Meta Mutation Damage Score

0.1130

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.0%

Validation Efficiency

100% (107/107)

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810064F22Rik	A	G	9: 22,119,177 (GRCm39)		noncoding transcript	Het
5530400C23Rik	A	T	6: 133,269,287 (GRCm39)		probably benign	Het
Aco2	T	C	15: 81,787,666 (GRCm39)		probably benign	Het
Arap3	A	T	18: 38,129,760 (GRCm39)	S134T	probably benign	Het
Arsa	T	A	15: 89,358,539 (GRCm39)	M288L	possibly damaging	Het
Atg2b	A	T	12: 105,614,708 (GRCm39)	D1074E	probably benign	Het
Baiap2l1	A	T	5: 144,221,372 (GRCm39)	I174N	probably damaging	Het
Bpifb9a	A	T	2: 154,108,761 (GRCm39)	N421Y	possibly damaging	Het
Btn2a2	T	A	13: 23,662,655 (GRCm39)	I432L	probably benign	Het
Ccdc150	A	G	1: 54,395,850 (GRCm39)	I778V	probably benign	Het
Cd200r2	G	A	16: 44,730,037 (GRCm39)	V194I	possibly damaging	Het
Cep350	A	C	1: 155,786,964 (GRCm39)	L1421R	probably damaging	Het
Col24a1	G	A	3: 145,250,899 (GRCm39)	A1633T	probably damaging	Het
Col6a6	A	T	9: 105,579,412 (GRCm39)	C1938S	probably damaging	Het
Cspg4	A	T	9: 56,795,418 (GRCm39)	D1051V	probably damaging	Het
Cstf1	T	A	2: 172,214,976 (GRCm39)	N32K	probably benign	Het
Ctrb1	G	A	8: 112,413,269 (GRCm39)	R248*	probably null	Het
Cyp2d11	T	A	15: 82,275,958 (GRCm39)	M208L	probably benign	Het
Dbt	A	G	3: 116,337,478 (GRCm39)	Q334R	probably benign	Het
Dcaf12	A	G	4: 41,298,338 (GRCm39)	V270A	probably damaging	Het
Dis3l	T	A	9: 64,226,447 (GRCm39)	N361I	probably benign	Het
Dnah10	A	T	5: 124,840,140 (GRCm39)	D1315V	probably benign	Het
Dnah11	A	G	12: 118,090,621 (GRCm39)	F1080S	probably benign	Het
Dnm3	A	G	1: 162,234,930 (GRCm39)	V70A	probably damaging	Het
Dpy19l1	A	C	9: 24,325,705 (GRCm39)	M700R	possibly damaging	Het
Dpy19l2	G	A	9: 24,557,679 (GRCm39)		probably benign	Het
Dst	C	A	1: 34,228,634 (GRCm39)	H2254N	possibly damaging	Het
Epm2aip1	A	G	9: 111,101,531 (GRCm39)	N168S	probably benign	Het
Fchsd2	A	G	7: 100,927,631 (GRCm39)	Y691C	possibly damaging	Het
Fndc8	A	T	11: 82,788,398 (GRCm39)	D76V	probably benign	Het
Frmd4a	T	C	2: 4,477,963 (GRCm39)	L48P	probably damaging	Het
Gimap6	T	A	6: 48,679,404 (GRCm39)	I211F	probably damaging	Het
Gm15130	A	G	2: 110,969,284 (GRCm39)		probably benign	Het
Gm43302	T	A	5: 105,438,766 (GRCm39)	I41F	probably damaging	Het
Gm5698	C	T	1: 31,016,614 (GRCm39)	V146I	probably benign	Het
Gpatch1	G	A	7: 34,986,652 (GRCm39)	S768L	probably damaging	Het
Grb14	T	G	2: 64,768,836 (GRCm39)		probably null	Het
Hnrnpd	T	C	5: 100,112,560 (GRCm39)	E222G	probably damaging	Het
Il4ra	C	T	7: 125,175,403 (GRCm39)	P537L	possibly damaging	Het
Kalrn	T	C	16: 34,024,327 (GRCm39)	D610G	probably damaging	Het
Kcnh4	T	C	11: 100,648,626 (GRCm39)	H26R	probably benign	Het
Kctd2	T	G	11: 115,320,343 (GRCm39)		probably benign	Het
Khdrbs3	T	A	15: 68,866,886 (GRCm39)		probably benign	Het
Macf1	G	A	4: 123,325,943 (GRCm39)	Q3066*	probably null	Het
Mfn2	G	A	4: 147,969,902 (GRCm39)		probably benign	Het
Mmab	T	C	5: 114,574,526 (GRCm39)		probably benign	Het
Mrc1	T	C	2: 14,266,011 (GRCm39)	S310P	probably benign	Het
Mrps21	T	C	3: 95,770,197 (GRCm39)	Y44C	probably null	Het
Myh10	T	A	11: 68,590,317 (GRCm39)	F121Y	probably damaging	Het
Myo1f	A	G	17: 33,820,677 (GRCm39)	D840G	probably damaging	Het
Neb	T	A	2: 52,196,542 (GRCm39)	D553V	probably damaging	Het
Nol6	G	T	4: 41,119,572 (GRCm39)		probably benign	Het
Npr2	G	T	4: 43,632,329 (GRCm39)	V49L	probably benign	Het
Ntsr2	T	C	12: 16,704,120 (GRCm39)	I207T	probably benign	Het
Nwd1	T	A	8: 73,438,484 (GRCm39)	S1552T	probably benign	Het
Oas3	T	A	5: 120,896,940 (GRCm39)	I894F	probably damaging	Het
Oprd1	A	G	4: 131,841,299 (GRCm39)	F220L	probably benign	Het
Or11j4	T	A	14: 50,630,659 (GRCm39)	F149I	probably benign	Het
Or2aj4	T	A	16: 19,384,799 (GRCm39)	Y278F	probably damaging	Het
Or2r2	A	T	6: 42,463,869 (GRCm39)	M86K	probably benign	Het
Or8b57	T	C	9: 40,003,983 (GRCm39)	N93S	possibly damaging	Het
Pkd1l3	G	T	8: 110,347,103 (GRCm39)	G159C	unknown	Het
Plcb4	T	C	2: 135,803,689 (GRCm39)	S521P	probably benign	Het
Plcl1	A	T	1: 55,752,634 (GRCm39)	I993F	probably damaging	Het
Plcxd1	T	A	5: 110,249,368 (GRCm39)	V65E	probably damaging	Het
Plekha7	T	C	7: 115,756,743 (GRCm39)	S640G	probably damaging	Het
Ptprn2	A	C	12: 117,240,222 (GRCm39)	N993T	probably benign	Het
Reck	A	G	4: 43,930,936 (GRCm39)	N646D	probably damaging	Het
Rfx2	A	T	17: 57,093,736 (GRCm39)		probably benign	Het
Ripk2	G	A	4: 16,123,868 (GRCm39)	Q436*	probably null	Het
Ryr1	C	T	7: 28,704,992 (GRCm39)		probably benign	Het
Sema6b	A	G	17: 56,435,271 (GRCm39)	V324A	possibly damaging	Het
Sik2	C	A	9: 50,909,833 (GRCm39)	M73I	probably benign	Het
Slc39a6	T	C	18: 24,732,326 (GRCm39)	K321E	probably damaging	Het
Slc7a4	C	A	16: 17,391,875 (GRCm39)	V520F	probably benign	Het
Slitrk6	A	T	14: 110,987,364 (GRCm39)	L781H	probably damaging	Het
Spink14	T	C	18: 44,161,830 (GRCm39)	V2A	probably benign	Het
Sptan1	C	A	2: 29,893,679 (GRCm39)		probably benign	Het
Stab1	C	T	14: 30,879,027 (GRCm39)		probably benign	Het
Tbc1d17	C	T	7: 44,493,495 (GRCm39)		probably benign	Het
Tbcd	T	A	11: 121,394,590 (GRCm39)	L49*	probably null	Het
Tmco6	A	G	18: 36,875,160 (GRCm39)	T477A	probably benign	Het
Tmem208	C	T	8: 106,054,857 (GRCm39)	A53V	probably benign	Het
Tpp2	A	G	1: 44,020,908 (GRCm39)	T837A	possibly damaging	Het
Tulp4	A	T	17: 6,252,008 (GRCm39)	N60I	probably damaging	Het
Ubqlnl	A	T	7: 103,798,145 (GRCm39)	W451R	probably damaging	Het
Usp53	G	T	3: 122,746,956 (GRCm39)	C363*	probably null	Het
Usp7	A	T	16: 8,509,282 (GRCm39)	H1017Q	probably benign	Het
Utp4	A	G	8: 107,649,530 (GRCm39)	T660A	possibly damaging	Het
Vmn1r194	A	T	13: 22,428,641 (GRCm39)	Y86F	probably benign	Het
Vmn1r195	A	T	13: 22,463,409 (GRCm39)	H293L	possibly damaging	Het
Vmn1r231	T	C	17: 21,109,998 (GRCm39)	R306G	probably benign	Het
Vmn2r63	T	C	7: 42,576,514 (GRCm39)		probably benign	Het
Vmn2r77	T	C	7: 86,449,964 (GRCm39)	V70A	probably benign	Het
Vmn2r85	T	C	10: 130,261,770 (GRCm39)	D189G	probably damaging	Het
Vps8	A	G	16: 21,296,273 (GRCm39)	E515G	possibly damaging	Het
Wdr18	C	A	10: 79,796,937 (GRCm39)	Y104*	probably null	Het
Wnk4	A	T	11: 101,156,261 (GRCm39)	D43V	probably damaging	Het
Xab2	A	T	8: 3,663,880 (GRCm39)	N346K	probably damaging	Het
Xirp2	T	C	2: 67,342,484 (GRCm39)	V1575A	possibly damaging	Het
Zdhhc12	C	T	2: 29,982,547 (GRCm39)	R50H	probably damaging	Het
Zdhhc8	A	G	16: 18,043,064 (GRCm39)	S379P	probably benign	Het
Zfp458	G	A	13: 67,407,673 (GRCm39)	Q58*	probably null	Het
Zfp747	A	T	7: 126,973,772 (GRCm39)	S133T	probably benign	Het

Other mutations in Rabepk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0479:Rabepk	UTSW	2	34,675,592 (GRCm39)	missense	probably damaging	1.00
R2152:Rabepk	UTSW	2	34,674,562 (GRCm39)	missense	possibly damaging	0.94
R2233:Rabepk	UTSW	2	34,685,246 (GRCm39)	missense	possibly damaging	0.96
R2234:Rabepk	UTSW	2	34,685,246 (GRCm39)	missense	possibly damaging	0.96
R4634:Rabepk	UTSW	2	34,670,752 (GRCm39)	missense	probably damaging	1.00
R4962:Rabepk	UTSW	2	34,670,669 (GRCm39)	missense	probably damaging	1.00
R7088:Rabepk	UTSW	2	34,675,711 (GRCm39)	missense	probably benign	0.01
R7685:Rabepk	UTSW	2	34,669,308 (GRCm39)	missense	probably damaging	1.00
R7686:Rabepk	UTSW	2	34,669,308 (GRCm39)	missense	probably damaging	1.00
R7767:Rabepk	UTSW	2	34,675,605 (GRCm39)	missense	probably damaging	1.00
R7990:Rabepk	UTSW	2	34,670,720 (GRCm39)	missense	probably benign	0.01
R8683:Rabepk	UTSW	2	34,685,188 (GRCm39)	missense	possibly damaging	0.87
R8995:Rabepk	UTSW	2	34,689,842 (GRCm39)	start gained	probably benign
R9573:Rabepk	UTSW	2	34,675,627 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- TCTACAGCACTGATCTTACCCAAGTCC -3'
(R):5'- TCCGTGTATTCTGGAGGGAGACATC -3'

Sequencing Primer
(F):5'- ACCAACTGGGGGGAAATATG -3'
(R):5'- gtgactaccctaatgcctcc -3'

Posted On

2013-05-23