Mutagenetix > Incidental Mutation

Incidental Mutation 'R2233:Rabepk'

240153

Institutional Source

Beutler Lab

Gene Symbol

Rabepk

Ensembl Gene

ENSMUSG00000070953

Gene Name

Rab9 effector protein with kelch motifs

Synonyms

8430412M01Rik, 9530020D24Rik

MMRRC Submission

040234-MU

Accession Numbers

Essential gene?

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

Stock #

R2233 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34667568-34689924 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34685246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 58 (I58N)

Ref Sequence

ENSEMBL: ENSMUSP00000122360 (fasta)

Gene Model

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

AlphaFold

Q8VCH5

Predicted Effect

unknown
Transcript: ENSMUST00000047963
AA Change: I24N

SMART Domains

Protein: ENSMUSP00000037746
Gene: ENSMUSG00000070953
AA Change: I24N

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

possibly damaging
Transcript: ENSMUST00000113086
AA Change: I50N

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108709
Gene: ENSMUSG00000070953
AA Change: I50N

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: I50N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113099
Gene: ENSMUSG00000070953
AA Change: I50N

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

probably benign
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

possibly damaging
Transcript: ENSMUST00000145903
AA Change: I58N

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000122360
Gene: ENSMUSG00000070953
AA Change: I58N

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	A	G	1: 63,584,671 (GRCm39)	I360V	probably benign	Het
Adarb1	A	G	10: 77,153,183 (GRCm39)	V322A	probably damaging	Het
Atad2b	T	G	12: 5,056,745 (GRCm39)	F867C	probably damaging	Het
Ccdc24	T	C	4: 117,727,113 (GRCm39)	K79R	possibly damaging	Het
Cfap44	A	G	16: 44,271,888 (GRCm39)	I1214V	probably benign	Het
Chrm4	A	G	2: 91,758,875 (GRCm39)	S428G	probably benign	Het
Chrnb1	A	T	11: 69,686,428 (GRCm39)	I64N	probably damaging	Het
Crh	A	T	3: 19,748,096 (GRCm39)	M182K	probably damaging	Het
Dazap1	A	G	10: 80,113,433 (GRCm39)	K110E	possibly damaging	Het
Dhx16	T	C	17: 36,198,778 (GRCm39)	C737R	probably damaging	Het
Dst	A	G	1: 34,313,343 (GRCm39)	E6384G	probably damaging	Het
Dync1i2	C	T	2: 71,079,764 (GRCm39)	Q419*	probably null	Het
E2f4	T	A	8: 106,025,283 (GRCm39)	V121E	probably damaging	Het
Enah	G	A	1: 181,749,537 (GRCm39)	P415L	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fezf1	T	C	6: 23,246,002 (GRCm39)	T388A	probably damaging	Het
Gimap6	T	A	6: 48,681,418 (GRCm39)	H72L	possibly damaging	Het
Gm11149	A	G	9: 49,473,446 (GRCm39)		probably benign	Het
Gm12695	C	T	4: 96,612,266 (GRCm39)	R499Q	probably damaging	Het
Grhl1	A	G	12: 24,658,510 (GRCm39)	D385G	probably damaging	Het
Hyou1	C	T	9: 44,300,388 (GRCm39)	T855M	probably benign	Het
Igf1r	T	A	7: 67,861,828 (GRCm39)	N1129K	probably damaging	Het
Iglon5	T	C	7: 43,130,062 (GRCm39)	E34G	probably damaging	Het
Kcnab1	T	A	3: 65,226,888 (GRCm39)	V189D	probably damaging	Het
Kifap3	T	A	1: 163,683,634 (GRCm39)	D438E	probably benign	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrrc41	G	A	4: 115,953,582 (GRCm39)	R756Q	possibly damaging	Het
Lrrc49	A	T	9: 60,505,440 (GRCm39)	F538L	possibly damaging	Het
Nphp3	G	A	9: 103,914,575 (GRCm39)	R1052H	probably benign	Het
Nynrin	G	A	14: 56,109,524 (GRCm39)	V1544I	possibly damaging	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or6z5	T	C	7: 6,477,441 (GRCm39)	S111P	possibly damaging	Het
Or9m1	G	A	2: 87,733,819 (GRCm39)	S67F	probably damaging	Het
Osbpl6	T	C	2: 76,417,113 (GRCm39)	F577L	probably damaging	Het
Otc	A	G	X: 10,169,606 (GRCm39)	Q216R	probably benign	Het
Ppp1r12a	A	G	10: 108,034,780 (GRCm39)	I108M	possibly damaging	Het
Prl7a1	C	A	13: 27,826,402 (GRCm39)		probably null	Het
Prss16	T	C	13: 22,193,579 (GRCm39)	D72G	possibly damaging	Het
Qrsl1	T	C	10: 43,772,092 (GRCm39)	K33E	probably benign	Het
Ralgapa1	A	T	12: 55,763,856 (GRCm39)	H1403Q	probably benign	Het
Rhobtb3	C	A	13: 76,020,484 (GRCm39)	C606F	possibly damaging	Het
Rnf216	G	A	5: 143,076,681 (GRCm39)	H68Y	probably benign	Het
Scap	T	C	9: 110,210,661 (GRCm39)	C998R	probably damaging	Het
Scgb1b27	T	C	7: 33,721,249 (GRCm39)	Y46H	probably damaging	Het
Sel1l2	T	C	2: 140,086,085 (GRCm39)	Y502C	probably damaging	Het
Sf3a2	G	T	10: 80,638,663 (GRCm39)	A95S	probably benign	Het
Sis	A	T	3: 72,820,527 (GRCm39)	F1412L	probably benign	Het
Slc25a29	A	T	12: 108,801,587 (GRCm39)	C9S	possibly damaging	Het
Snap91	T	C	9: 86,680,624 (GRCm39)	T427A	probably benign	Het
St3gal6	A	G	16: 58,293,897 (GRCm39)	F211L	probably damaging	Het
Stab1	G	A	14: 30,883,837 (GRCm39)	S240F	probably benign	Het
Sun3	T	A	11: 8,973,371 (GRCm39)	K109*	probably null	Het
Syne1	T	C	10: 4,991,484 (GRCm39)	N8410S	probably benign	Het
Tbx18	G	T	9: 87,606,403 (GRCm39)	S247R	probably damaging	Het
Tenm3	T	C	8: 48,729,204 (GRCm39)	I1601V	probably benign	Het
Tmem135	T	C	7: 88,803,282 (GRCm39)	N297S	probably damaging	Het
Tnk1	C	T	11: 69,746,017 (GRCm39)		probably null	Het
Txnl4b	A	G	8: 110,295,551 (GRCm39)		probably benign	Het
Uck1	T	C	2: 32,148,315 (GRCm39)	D167G	probably damaging	Het
Vmn2r124	A	T	17: 18,269,927 (GRCm39)	H61L	possibly damaging	Het
Xylt2	C	T	11: 94,560,822 (GRCm39)	V239M	possibly damaging	Het
Zmpste24	T	C	4: 120,955,162 (GRCm39)	D12G	probably benign	Het
Zscan25	A	G	5: 145,220,502 (GRCm39)	Y99C	probably damaging	Het

Other mutations in Rabepk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0066:Rabepk	UTSW	2	34,685,318 (GRCm39)	missense	possibly damaging	0.89
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
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'- TCAGAGTCATTACTATTGTTGTTGTT -3'
(R):5'- GTGCCAGGCCTTTCATCCTT -3'

Sequencing Primer
(F):5'- CCTGGAACTTGTTATATAGACCAGGC -3'
(R):5'- AGGCCTTTCATCCTTTGTGAG -3'

Posted On

2014-10-15