Mutagenetix > Incidental Mutation

Incidental Mutation 'R7112:Rab11fip5'

551557

Institutional Source

Beutler Lab

Gene Symbol

Rab11fip5

Ensembl Gene

ENSMUSG00000051343

Gene Name

RAB11 family interacting protein 5 (class I)

Synonyms

D6Ertd32e, RIP11, 9130206P09Rik, GAF1

MMRRC Submission

045204-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7112 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85311944-85351616 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 85325176 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 377 (E377V)

Ref Sequence

ENSEMBL: ENSMUSP00000145402 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060837] [ENSMUST00000204087]

AlphaFold

Q8R361

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060837
AA Change: E377V

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000058305
Gene: ENSMUSG00000051343
AA Change: E377V

Domain	Start	End	E-Value	Type
C2	20	143	8.7e-7	SMART
low complexity region	248	265	N/A	INTRINSIC
low complexity region	313	322	N/A	INTRINSIC
low complexity region	356	391	N/A	INTRINSIC
Pfam:RBD-FIP	593	640	5.1e-23	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000204087
AA Change: E377V

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

SMART Domains

Protein: ENSMUSP00000145402
Gene: ENSMUSG00000051343
AA Change: E377V

Domain	Start	End	E-Value	Type
C2	20	143	5.8e-9	SMART
low complexity region	248	265	N/A	INTRINSIC
low complexity region	313	322	N/A	INTRINSIC
low complexity region	356	391	N/A	INTRINSIC
low complexity region	529	547	N/A	INTRINSIC
low complexity region	560	568	N/A	INTRINSIC
low complexity region	603	627	N/A	INTRINSIC
low complexity region	687	692	N/A	INTRINSIC
low complexity region	713	732	N/A	INTRINSIC
low complexity region	852	887	N/A	INTRINSIC
low complexity region	893	901	N/A	INTRINSIC
low complexity region	1037	1052	N/A	INTRINSIC
low complexity region	1068	1106	N/A	INTRINSIC
low complexity region	1115	1149	N/A	INTRINSIC
Pfam:RBD-FIP	1266	1313	8.5e-20	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a floxed allele are viable and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak2	G	T	12: 112,747,747 (GRCm39)	A1036E		Het
Baz2b	A	T	2: 59,792,528 (GRCm39)	H533Q	possibly damaging	Het
Bcl2l11	T	A	2: 128,000,235 (GRCm39)	W193R	probably damaging	Het
Bcl2l12	C	T	7: 44,646,338 (GRCm39)	G24D	probably damaging	Het
Cacna1b	A	G	2: 24,580,773 (GRCm39)	V691A	probably damaging	Het
Cdh8	T	C	8: 99,922,984 (GRCm39)	D304G	probably damaging	Het
Ces3a	A	T	8: 105,784,594 (GRCm39)	Q525H	probably damaging	Het
Csmd1	C	A	8: 16,151,142 (GRCm39)	C1391F	probably damaging	Het
Cul7	G	T	17: 46,962,624 (GRCm39)	G85V	probably damaging	Het
Dnah8	G	A	17: 31,090,366 (GRCm39)	V4623I	possibly damaging	Het
Dnhd1	T	A	7: 105,363,192 (GRCm39)	L3918Q	probably damaging	Het
Exoc4	A	T	6: 33,898,423 (GRCm39)	N881Y	probably damaging	Het
Flt1	G	C	5: 147,540,379 (GRCm39)	A770G	probably damaging	Het
Fndc5	A	G	4: 129,035,915 (GRCm39)	N184S	probably benign	Het
Folh1	A	G	7: 86,424,845 (GRCm39)		probably null	Het
Frem3	A	T	8: 81,338,660 (GRCm39)	T318S	probably damaging	Het
Gba2	A	G	4: 43,568,453 (GRCm39)	V671A	probably benign	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Jph2	G	A	2: 163,217,704 (GRCm39)	T324M	probably damaging	Het
Kank4	A	G	4: 98,649,758 (GRCm39)	V937A	probably damaging	Het
Kdm3a	T	A	6: 71,609,154 (GRCm39)	E24D	probably benign	Het
Kidins220	T	A	12: 25,054,018 (GRCm39)	L464Q	probably damaging	Het
Loxhd1	T	A	18: 77,476,210 (GRCm39)	V1159E	probably damaging	Het
Malrd1	A	G	2: 15,929,987 (GRCm39)	N1498D	unknown	Het
Mplkipl1	T	G	19: 61,163,997 (GRCm39)	D146A	probably damaging	Het
Mrgprb5	C	T	7: 47,818,655 (GRCm39)	V27I	probably benign	Het
Mtfr2	A	G	10: 20,233,312 (GRCm39)	N294D	probably damaging	Het
Muc6	A	T	7: 141,235,542 (GRCm39)	L498H	probably damaging	Het
N4bp2	A	G	5: 65,948,050 (GRCm39)	T227A	possibly damaging	Het
Nin	C	T	12: 70,149,573 (GRCm39)	R12Q		Het
Obscn	G	C	11: 58,920,151 (GRCm39)	A27G		Het
Or11h7	T	A	14: 50,891,583 (GRCm39)	D296E	probably benign	Het
Or4k5	T	G	14: 50,385,392 (GRCm39)	E313A	probably benign	Het
Or52r1b	G	A	7: 102,690,862 (GRCm39)	D54N	probably damaging	Het
Or8b48	T	A	9: 38,493,330 (GRCm39)	Y252*	probably null	Het
Or8s5	T	A	15: 98,238,421 (GRCm39)	M150L	possibly damaging	Het
Polr2a	A	G	11: 69,626,135 (GRCm39)	S1672P	unknown	Het
Qprt	A	G	7: 126,707,361 (GRCm39)	V245A	probably damaging	Het
Rere	A	G	4: 150,491,061 (GRCm39)	T71A	probably benign	Het
Ret	A	T	6: 118,174,063 (GRCm39)	L11Q	possibly damaging	Het
Rp1	C	T	1: 4,419,241 (GRCm39)	V624I	probably benign	Het
Scaf8	T	A	17: 3,213,304 (GRCm39)	L131H	unknown	Het
Scgb2a2	A	G	19: 9,829,021 (GRCm39)	R58G	probably benign	Het
Scn11a	A	G	9: 119,583,875 (GRCm39)	I1580T	probably damaging	Het
Slco4c1	T	G	1: 96,768,866 (GRCm39)	K332T	probably damaging	Het
Sntg1	T	G	1: 8,518,289 (GRCm39)	Y368S	possibly damaging	Het
Stim1	A	G	7: 102,057,615 (GRCm39)	T143A	probably benign	Het
Tbr1	A	G	2: 61,642,160 (GRCm39)	D475G	probably benign	Het
Tcp1	A	G	17: 13,136,760 (GRCm39)	D47G	probably damaging	Het
Tpgs2	T	C	18: 25,282,194 (GRCm39)	D119G	probably damaging	Het
Trim40	C	A	17: 37,193,534 (GRCm39)	R225M	probably null	Het
Tro	GCAGTGCTTGGTCCTCCGAAGCCACCTCCAGTGCTTGGTCCTCCGAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTATTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCC	GCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTATTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCC	X: 149,428,852 (GRCm39)		probably benign	Het
Trpm1	A	T	7: 63,885,593 (GRCm39)	N870Y	probably damaging	Het
Tsr3	A	G	17: 25,459,445 (GRCm39)	D47G	probably benign	Het
Vil1	G	A	1: 74,455,161 (GRCm39)	G38R	probably damaging	Het
Vmn2r91	A	T	17: 18,325,880 (GRCm39)	Q166L	possibly damaging	Het
Wdr33	C	T	18: 32,026,056 (GRCm39)	T919I	unknown	Het
Wdr36	T	C	18: 32,972,504 (GRCm39)	V64A	probably benign	Het
Xpnpep1	T	C	19: 52,998,538 (GRCm39)	I237V	probably benign	Het
Zfp780b	A	T	7: 27,662,566 (GRCm39)	I663N	probably damaging	Het
Zfyve9	G	A	4: 108,507,519 (GRCm39)	A513V	probably benign	Het

Other mutations in Rab11fip5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02282:Rab11fip5	APN	6	85,314,534 (GRCm39)	missense	probably damaging	1.00
IGL02471:Rab11fip5	APN	6	85,325,207 (GRCm39)	missense	probably damaging	0.99
IGL02725:Rab11fip5	APN	6	85,351,471 (GRCm39)	missense	probably damaging	0.99
IGL02737:Rab11fip5	APN	6	85,325,540 (GRCm39)	missense	probably damaging	1.00
PIT4812001:Rab11fip5	UTSW	6	85,318,540 (GRCm39)	missense	probably benign	0.38
R0627:Rab11fip5	UTSW	6	85,325,033 (GRCm39)	missense	probably benign	0.05
R1652:Rab11fip5	UTSW	6	85,325,279 (GRCm39)	missense	probably damaging	0.97
R1961:Rab11fip5	UTSW	6	85,325,973 (GRCm39)	missense	possibly damaging	0.87
R2106:Rab11fip5	UTSW	6	85,351,369 (GRCm39)	missense	probably damaging	0.98
R2142:Rab11fip5	UTSW	6	85,314,210 (GRCm39)	critical splice acceptor site	probably null
R4729:Rab11fip5	UTSW	6	85,351,249 (GRCm39)	missense	probably damaging	0.99
R5001:Rab11fip5	UTSW	6	85,324,788 (GRCm39)	missense	probably damaging	1.00
R5116:Rab11fip5	UTSW	6	85,325,789 (GRCm39)	missense	probably damaging	1.00
R5506:Rab11fip5	UTSW	6	85,351,119 (GRCm39)	missense	probably damaging	1.00
R5801:Rab11fip5	UTSW	6	85,314,582 (GRCm39)	missense	probably damaging	0.99
R6338:Rab11fip5	UTSW	6	85,318,360 (GRCm39)	missense	possibly damaging	0.94
R6696:Rab11fip5	UTSW	6	85,318,928 (GRCm39)	missense	possibly damaging	0.65
R6763:Rab11fip5	UTSW	6	85,319,152 (GRCm39)	missense	probably benign	0.02
R6880:Rab11fip5	UTSW	6	85,325,827 (GRCm39)	missense	probably damaging	0.99
R6932:Rab11fip5	UTSW	6	85,318,540 (GRCm39)	missense	probably benign	0.38
R7042:Rab11fip5	UTSW	6	85,351,110 (GRCm39)	missense	possibly damaging	0.82
R7197:Rab11fip5	UTSW	6	85,319,137 (GRCm39)	missense	probably damaging	1.00
R7384:Rab11fip5	UTSW	6	85,325,312 (GRCm39)	missense	possibly damaging	0.47
R7395:Rab11fip5	UTSW	6	85,318,850 (GRCm39)	missense	probably benign
R7451:Rab11fip5	UTSW	6	85,318,538 (GRCm39)	missense	probably benign	0.06
R7482:Rab11fip5	UTSW	6	85,317,760 (GRCm39)	missense	probably benign	0.41
R8435:Rab11fip5	UTSW	6	85,314,522 (GRCm39)	missense	possibly damaging	0.86
R8674:Rab11fip5	UTSW	6	85,318,910 (GRCm39)	missense	probably benign	0.00
R9040:Rab11fip5	UTSW	6	85,324,915 (GRCm39)	missense	probably damaging	1.00
R9101:Rab11fip5	UTSW	6	85,317,675 (GRCm39)	missense	probably benign
R9129:Rab11fip5	UTSW	6	85,317,892 (GRCm39)	missense	probably benign
R9281:Rab11fip5	UTSW	6	85,318,834 (GRCm39)	missense	probably benign
R9294:Rab11fip5	UTSW	6	85,325,692 (GRCm39)	missense	probably benign	0.18
R9487:Rab11fip5	UTSW	6	85,324,913 (GRCm39)	missense	possibly damaging	0.88
Z1177:Rab11fip5	UTSW	6	85,317,452 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGATGGAAGAGCCCCATTCG -3'
(R):5'- CATACAGTGATGAGGCCAGC -3'

Sequencing Primer
(F):5'- TCAGAGGAGGCCACCATG -3'
(R):5'- TGATGAGGCCAGCCAGCTTC -3'

Posted On

2019-05-15