Mutagenetix > Incidental Mutation

Incidental Mutation 'R9389:Ranbp3l'

731306

Institutional Source

Beutler Lab

Gene Symbol

Ranbp3l

Ensembl Gene

ENSMUSG00000048424

Gene Name

RAN binding protein 3-like

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R9389 (G1)

Quality Score

45.0072

Status

Validated

Chromosome

Chromosomal Location

8967949-9067335 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 9057223 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 322 (N322K)

Ref Sequence

ENSEMBL: ENSMUSP00000055750 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053308] [ENSMUST00000227191]

AlphaFold

Q6PDH4

Predicted Effect

probably damaging
Transcript: ENSMUST00000053308
AA Change: N322K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000055750
Gene: ENSMUSG00000048424
AA Change: N322K

Domain	Start	End	E-Value	Type
low complexity region	19	31	N/A	INTRINSIC
low complexity region	118	129	N/A	INTRINSIC
low complexity region	191	197	N/A	INTRINSIC
RanBD	302	430	4.52e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000227191
AA Change: N186K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	C	T	6: 41,033,145	G85D	probably benign	Het
4931440F15Rik	A	G	11: 29,825,107	S117P	probably damaging	Het
Abcb1b	G	A	5: 8,825,614	V596I	probably benign	Het
Agtpbp1	A	T	13: 59,466,070	M1019K	probably damaging	Het
Arfgef3	A	G	10: 18,603,523	V1448A	probably damaging	Het
Baz1a	T	A	12: 54,916,823	E828D	probably damaging	Het
Ces1f	A	T	8: 93,269,972		probably null	Het
Cfap53	T	A	18: 74,299,343		probably null	Het
Col6a4	T	C	9: 106,000,784	Y1998C	probably damaging	Het
Col9a2	A	G	4: 121,054,751	T675A	probably benign	Het
Dusp6	G	A	10: 99,263,977	V96M	possibly damaging	Het
Elmo1	T	G	13: 20,185,491	M22R	probably benign	Het
Gm19965	A	G	1: 116,821,836	N416D		Het
Gpr162	A	G	6: 124,861,394	Y98H	probably damaging	Het
Igfals	G	A	17: 24,881,626	V564I	probably benign	Het
Il4	C	T	11: 53,614,010	R76H	probably damaging	Het
Itgb1	T	A	8: 128,707,156	N50K	probably benign	Het
Itpr3	A	T	17: 27,095,925	Y682F	possibly damaging	Het
Jak3	C	T	8: 71,684,052	P668S	probably damaging	Het
Malrd1	A	T	2: 15,703,156	N932I	unknown	Het
Mast4	C	A	13: 103,333,930	R88L	probably benign	Het
Mfsd11	T	G	11: 116,873,335	S381A	probably benign	Het
Mrm3	A	G	11: 76,250,030	D288G	probably damaging	Het
Myg1	G	T	15: 102,336,937	V198F	probably damaging	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Npy6r	T	C	18: 44,275,692	I60T	probably damaging	Het
Olfr1109	A	T	2: 87,093,046	M117K	possibly damaging	Het
Olfr1308	G	T	2: 111,960,527	P182H	probably damaging	Het
Olfr1341	A	T	4: 118,710,156	M250L	probably benign	Het
Olfr177	C	T	16: 58,872,613	C179Y	probably damaging	Het
Olfr530	T	C	7: 140,373,017	T198A	probably benign	Het
Olfr811	G	A	10: 129,801,671	P285S	probably damaging	Het
Ovgp1	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCATCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA	3: 105,986,525		probably benign	Het
Oxtr	C	A	6: 112,489,349	R150L	probably damaging	Het
Pappa	A	T	4: 65,180,888	Y548F	probably damaging	Het
Pip4k2a	T	C	2: 18,908,079	K73R	probably damaging	Het
Pla2g4f	T	A	2: 120,302,300	D685V	probably damaging	Het
Ppp1r35	T	A	5: 137,779,315	L81Q	probably damaging	Het
Ptprf	C	A	4: 118,236,039	A469S	probably benign	Het
Rev3l	T	A	10: 39,822,971	Y1155N	possibly damaging	Het
Rfesd	T	C	13: 76,003,012	Y96C	probably damaging	Het
Runx1	C	T	16: 92,613,680	V283I	possibly damaging	Het
Sema5b	A	C	16: 35,645,722	Q125P	probably damaging	Het
Spef2	A	T	15: 9,725,221	M150K	probably damaging	Het
Srcap	T	G	7: 127,542,283	L1745W	probably damaging	Het
Srgap2	A	G	1: 131,355,627	Y239H	probably damaging	Het
Svil	T	A	18: 5,090,811	H1304Q	possibly damaging	Het
Syne1	T	C	10: 5,229,193	D4427G	possibly damaging	Het
Tg	T	A	15: 66,689,324	M1065K	probably benign	Het
Tgm2	T	C	2: 158,117,896	T656A	probably benign	Het
Ttc37	A	G	13: 76,127,039	D403G	probably benign	Het
Ubr4	A	G	4: 139,425,924	K809E		Het
Vmn1r88	T	C	7: 13,178,619	S301P	probably damaging	Het
Wdr27	A	G	17: 14,891,718	V671A	possibly damaging	Het
Zbtb17	G	A	4: 141,465,820	V550I	possibly damaging	Het
Zeb2	A	T	2: 44,997,908	I379N	probably damaging	Het

Other mutations in Ranbp3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01746:Ranbp3l	APN	15	9063087	nonsense	probably null
IGL01982:Ranbp3l	APN	15	9058746	missense	probably damaging	0.99
IGL02549:Ranbp3l	APN	15	8968441	missense	possibly damaging	0.66
IGL03170:Ranbp3l	APN	15	9000787	missense	probably damaging	1.00
IGL03338:Ranbp3l	APN	15	9060859	missense	probably damaging	1.00
PIT4791001:Ranbp3l	UTSW	15	9060748	missense	probably damaging	1.00
R0137:Ranbp3l	UTSW	15	9062987	missense	probably damaging	1.00
R0383:Ranbp3l	UTSW	15	9063104	missense	possibly damaging	0.48
R0699:Ranbp3l	UTSW	15	9058769	critical splice donor site	probably null
R1517:Ranbp3l	UTSW	15	9065001	nonsense	probably null
R1629:Ranbp3l	UTSW	15	9064988	missense	probably damaging	0.99
R1922:Ranbp3l	UTSW	15	9057125	missense	probably damaging	1.00
R2058:Ranbp3l	UTSW	15	9000817	missense	probably damaging	1.00
R2265:Ranbp3l	UTSW	15	9057113	missense	probably damaging	0.99
R2512:Ranbp3l	UTSW	15	8968465	missense	probably benign	0.00
R4077:Ranbp3l	UTSW	15	9060757	missense	probably damaging	1.00
R4079:Ranbp3l	UTSW	15	9060757	missense	probably damaging	1.00
R4179:Ranbp3l	UTSW	15	9057198	missense	possibly damaging	0.62
R5227:Ranbp3l	UTSW	15	9007312	missense	probably damaging	0.99
R5265:Ranbp3l	UTSW	15	9007203	missense	probably benign	0.01
R5722:Ranbp3l	UTSW	15	9000832	missense	probably damaging	0.98
R5751:Ranbp3l	UTSW	15	9063089	missense	probably damaging	1.00
R5976:Ranbp3l	UTSW	15	9002093	missense	possibly damaging	0.85
R6504:Ranbp3l	UTSW	15	8968462	missense	probably benign	0.27
R6850:Ranbp3l	UTSW	15	9058727	missense	probably damaging	1.00
R6940:Ranbp3l	UTSW	15	9011919	missense	probably benign	0.03
R7009:Ranbp3l	UTSW	15	9062984	missense	probably damaging	1.00
R7018:Ranbp3l	UTSW	15	9007285	missense	probably benign	0.00
R7019:Ranbp3l	UTSW	15	9057160	missense	probably damaging	0.99
R7250:Ranbp3l	UTSW	15	9011980	missense	probably benign
R7352:Ranbp3l	UTSW	15	8968358	start gained	probably benign
R7483:Ranbp3l	UTSW	15	9002132	missense	possibly damaging	0.86
R8210:Ranbp3l	UTSW	15	9064979	missense	probably benign	0.00
R9255:Ranbp3l	UTSW	15	9057212	missense	probably benign	0.00
R9511:Ranbp3l	UTSW	15	9012118	intron	probably benign
R9513:Ranbp3l	UTSW	15	9007302	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCAAACAAGTTTCATTGCAGAG -3'
(R):5'- AGAGTGAGTGGTTGTAAGCC -3'

Sequencing Primer
(F):5'- ACAAGTTTCATTGCAGAGAAAGC -3'
(R):5'- TAACAGTGATGTGACAAGCCTC -3'

Posted On

2022-10-19