Mutagenetix > Incidental Mutation

Incidental Mutation 'R7481:Rab11fip1'

579810

Institutional Source

Beutler Lab

Gene Symbol

Rab11fip1

Ensembl Gene

ENSMUSG00000031488

Gene Name

RAB11 family interacting protein 1 (class I)

Synonyms

2010200K21Rik, 4833414G05Rik

MMRRC Submission

045555-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R7481 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27628801-27664674 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27646609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 156 (T156A)

Ref Sequence

ENSEMBL: ENSMUSP00000033878 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033878] [ENSMUST00000054212] [ENSMUST00000209377]

AlphaFold

Q9D620

Predicted Effect

probably damaging
Transcript: ENSMUST00000033878
AA Change: T156A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000033878
Gene: ENSMUSG00000031488
AA Change: T156A

Domain	Start	End	E-Value	Type
C2	19	125	1.57e-13	SMART
low complexity region	173	185	N/A	INTRINSIC
low complexity region	201	227	N/A	INTRINSIC
low complexity region	260	273	N/A	INTRINSIC
low complexity region	373	396	N/A	INTRINSIC
low complexity region	423	438	N/A	INTRINSIC
Pfam:RBD-FIP	588	635	6.1e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000054212
AA Change: T156A

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000058042
Gene: ENSMUSG00000031488
AA Change: T156A

Domain	Start	End	E-Value	Type
C2	19	125	1.57e-13	SMART
low complexity region	173	185	N/A	INTRINSIC
low complexity region	201	227	N/A	INTRINSIC
low complexity region	260	273	N/A	INTRINSIC
low complexity region	373	396	N/A	INTRINSIC
low complexity region	423	438	N/A	INTRINSIC
low complexity region	582	600	N/A	INTRINSIC
low complexity region	695	708	N/A	INTRINSIC
low complexity region	745	757	N/A	INTRINSIC
low complexity region	882	893	N/A	INTRINSIC
low complexity region	976	983	N/A	INTRINSIC
low complexity region	992	999	N/A	INTRINSIC
Pfam:RBD-FIP	1109	1156	3.8e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000209377
AA Change: T156A

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

Coding Region Coverage

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

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the Rab11-family interacting proteins (Rab11-FIPs), which play a role in the Rab-11 mediated recycling of vesicles. The encoded protein may be involved in endocytic sorting, trafficking of proteins including integrin subunits and epidermal growth factor receptor (EGFR), and transport between the recycling endosome and the trans-Golgi network. Alternative splicing results in multiple transcript variants. A pseudogene is described on the X chromosome. [provided by RefSeq, Dec 2013]
PHENOTYPE: Homozygous knockout results in reduced metastatic potential of pancreatic adenocarcinoma (PDAC) tumor cells in KPC (PDAC model) mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	C	2: 68,494,575 (GRCm39)	F68S	unknown	Het
Abcb6	A	G	1: 75,150,248 (GRCm39)	F637L	probably damaging	Het
Aldh3b3	A	G	19: 4,014,549 (GRCm39)	M95V	probably benign	Het
Arhgap45	A	T	10: 79,858,134 (GRCm39)	H387L	possibly damaging	Het
Avil	C	T	10: 126,843,460 (GRCm39)	T130I	probably benign	Het
Bmal2	G	A	6: 146,720,369 (GRCm39)	A178T	not run	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
C3	C	A	17: 57,527,136 (GRCm39)	W771L	probably damaging	Het
C6	A	G	15: 4,844,357 (GRCm39)	I926M		Het
Cacna1b	G	A	2: 24,506,874 (GRCm39)	L1903F	probably damaging	Het
Car3	A	T	3: 14,928,632 (GRCm39)	M1L	probably benign	Het
Ccdc175	A	G	12: 72,202,398 (GRCm39)	I299T	probably benign	Het
Chd9	C	T	8: 91,683,066 (GRCm39)	T502I	unknown	Het
Clec4a1	G	A	6: 122,904,998 (GRCm39)	C99Y	probably damaging	Het
Col19a1	C	T	1: 24,356,788 (GRCm39)	G632R	probably damaging	Het
Dmbt1	A	T	7: 130,681,241 (GRCm39)		probably null	Het
Dop1a	A	T	9: 86,417,985 (GRCm39)	K1951N	probably damaging	Het
Dpf3	A	C	12: 83,378,701 (GRCm39)	L122R	probably damaging	Het
Edem3	A	T	1: 151,683,973 (GRCm39)	S687C	probably damaging	Het
Edem3	G	A	1: 151,683,974 (GRCm39)	S687N	possibly damaging	Het
Fig4	A	G	10: 41,106,001 (GRCm39)		probably null	Het
Fmnl2	A	G	2: 52,998,443 (GRCm39)	T603A	unknown	Het
Frmd6	T	A	12: 70,933,829 (GRCm39)	L249Q	probably damaging	Het
Glrx3	T	C	7: 137,046,751 (GRCm39)	C48R	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gm6133	A	T	18: 78,393,008 (GRCm39)	M1L	probably benign	Het
Gm9195	G	A	14: 72,720,116 (GRCm39)	T105I	probably benign	Het
Hk2	G	A	6: 82,737,150 (GRCm39)	T54I	probably benign	Het
Jade1	G	A	3: 41,559,125 (GRCm39)	G402D	probably benign	Het
Kmt2a	T	C	9: 44,720,368 (GRCm39)	D3873G	unknown	Het
Map6	A	T	7: 98,918,345 (GRCm39)	T373S	possibly damaging	Het
Megf9	T	C	4: 70,351,679 (GRCm39)	T481A	probably damaging	Het
Mtcl3	G	T	10: 29,072,519 (GRCm39)	V604L	probably damaging	Het
Mtus1	T	A	8: 41,537,652 (GRCm39)	K21N	probably damaging	Het
Muc5b	C	T	7: 141,414,908 (GRCm39)	T2618I	unknown	Het
Nbas	A	G	12: 13,406,960 (GRCm39)	I852M	probably damaging	Het
Or14j1	T	A	17: 38,146,289 (GRCm39)	M133K	probably damaging	Het
Or4a70	C	T	2: 89,324,636 (GRCm39)	V7I	probably benign	Het
Or5b121	A	T	19: 13,507,817 (GRCm39)	Q304L	probably damaging	Het
Or5d39	A	G	2: 87,980,105 (GRCm39)	I86T	probably benign	Het
Pank4	A	G	4: 155,054,495 (GRCm39)	N156S	probably damaging	Het
Pcdhga8	A	G	18: 37,860,990 (GRCm39)	E682G	probably benign	Het
Pde10a	C	A	17: 9,168,262 (GRCm39)	D312E	possibly damaging	Het
Pkhd1l1	A	G	15: 44,376,307 (GRCm39)	T990A	probably benign	Het
Rhbdd2	T	A	5: 135,665,031 (GRCm39)	S121T	possibly damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,124 (GRCm39)		probably benign	Het
Ryr3	C	A	2: 112,508,438 (GRCm39)	R3418S	probably benign	Het
Ryr3	C	A	2: 112,508,439 (GRCm39)	R3418M	possibly damaging	Het
Sbno2	G	A	10: 79,893,333 (GRCm39)	P1323S	probably benign	Het
Sec24d	T	C	3: 123,144,412 (GRCm39)	C630R	probably damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Skp2	A	T	15: 9,113,905 (GRCm39)	V371E	probably damaging	Het
Strbp	A	T	2: 37,490,766 (GRCm39)	S496R	probably benign	Het
Stxbp4	G	A	11: 90,485,639 (GRCm39)	T236I	possibly damaging	Het
Terf2	C	T	8: 107,799,353 (GRCm39)		probably null	Het
Thnsl1	A	T	2: 21,216,599 (GRCm39)	T118S	probably benign	Het
Tlnrd1	A	T	7: 83,531,546 (GRCm39)	V295E	probably damaging	Het
Ttll6	A	G	11: 96,045,672 (GRCm39)	T630A	probably benign	Het
Usp9y	G	T	Y: 1,432,180 (GRCm39)	A435E	probably benign	Het
Vil1	A	C	1: 74,459,058 (GRCm39)	R187S	probably damaging	Het
Vmn2r31	A	T	7: 7,387,579 (GRCm39)	V664E	possibly damaging	Het
Wdr17	T	C	8: 55,114,371 (GRCm39)	I693M	probably benign	Het
Wdr82	C	T	9: 106,053,865 (GRCm39)	T72I	probably damaging	Het
Zbtb5	A	G	4: 44,994,905 (GRCm39)	S160P	probably benign	Het
Zfat	G	A	15: 68,050,715 (GRCm39)	Q769*	probably null	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp937	T	A	2: 150,081,266 (GRCm39)	I432K	probably benign	Het
Zglp1	C	T	9: 20,973,903 (GRCm39)	S261N	probably benign	Het

Other mutations in Rab11fip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01505:Rab11fip1	APN	8	27,644,804 (GRCm39)	missense	possibly damaging	0.71
IGL01976:Rab11fip1	APN	8	27,642,825 (GRCm39)	missense	possibly damaging	0.56
IGL02832:Rab11fip1	APN	8	27,642,840 (GRCm39)	missense	possibly damaging	0.79
IGL02799:Rab11fip1	UTSW	8	27,642,788 (GRCm39)	missense	probably benign	0.12
R0046:Rab11fip1	UTSW	8	27,643,149 (GRCm39)	missense	probably damaging	0.99
R0046:Rab11fip1	UTSW	8	27,643,149 (GRCm39)	missense	probably damaging	0.99
R0145:Rab11fip1	UTSW	8	27,633,352 (GRCm39)	missense	probably damaging	1.00
R0243:Rab11fip1	UTSW	8	27,642,253 (GRCm39)	missense	probably damaging	1.00
R0427:Rab11fip1	UTSW	8	27,644,520 (GRCm39)	missense	probably damaging	0.99
R1341:Rab11fip1	UTSW	8	27,633,388 (GRCm39)	missense	probably damaging	0.99
R1487:Rab11fip1	UTSW	8	27,644,240 (GRCm39)	missense	probably damaging	0.99
R1509:Rab11fip1	UTSW	8	27,643,051 (GRCm39)	missense	probably damaging	1.00
R1731:Rab11fip1	UTSW	8	27,642,438 (GRCm39)	missense	probably damaging	0.98
R3832:Rab11fip1	UTSW	8	27,642,774 (GRCm39)	missense	probably benign
R4157:Rab11fip1	UTSW	8	27,642,175 (GRCm39)	missense	probably damaging	1.00
R4451:Rab11fip1	UTSW	8	27,644,505 (GRCm39)	missense	probably damaging	1.00
R4595:Rab11fip1	UTSW	8	27,644,603 (GRCm39)	missense	probably damaging	0.98
R4620:Rab11fip1	UTSW	8	27,644,243 (GRCm39)	missense	probably damaging	1.00
R4753:Rab11fip1	UTSW	8	27,642,769 (GRCm39)	missense	probably benign
R4834:Rab11fip1	UTSW	8	27,643,111 (GRCm39)	missense	probably damaging	1.00
R4958:Rab11fip1	UTSW	8	27,644,841 (GRCm39)	missense	probably damaging	0.99
R5102:Rab11fip1	UTSW	8	27,646,402 (GRCm39)	missense	probably damaging	0.99
R5558:Rab11fip1	UTSW	8	27,642,003 (GRCm39)	missense	probably damaging	1.00
R5752:Rab11fip1	UTSW	8	27,646,614 (GRCm39)	missense	probably damaging	0.99
R5859:Rab11fip1	UTSW	8	27,644,748 (GRCm39)	missense	probably damaging	1.00
R6525:Rab11fip1	UTSW	8	27,646,527 (GRCm39)	missense	probably benign	0.45
R6527:Rab11fip1	UTSW	8	27,664,420 (GRCm39)	missense	probably damaging	0.99
R6551:Rab11fip1	UTSW	8	27,646,512 (GRCm39)	missense	probably damaging	0.96
R6695:Rab11fip1	UTSW	8	27,633,262 (GRCm39)	missense	probably damaging	1.00
R6730:Rab11fip1	UTSW	8	27,633,257 (GRCm39)	missense	probably damaging	1.00
R6810:Rab11fip1	UTSW	8	27,642,760 (GRCm39)	frame shift	probably null
R6925:Rab11fip1	UTSW	8	27,643,000 (GRCm39)	missense	probably damaging	1.00
R6941:Rab11fip1	UTSW	8	27,646,303 (GRCm39)	nonsense	probably null
R7504:Rab11fip1	UTSW	8	27,642,981 (GRCm39)	missense	possibly damaging	0.78
R7610:Rab11fip1	UTSW	8	27,642,064 (GRCm39)	missense	probably benign	0.19
R8264:Rab11fip1	UTSW	8	27,642,508 (GRCm39)	nonsense	probably null
R8360:Rab11fip1	UTSW	8	27,642,374 (GRCm39)	nonsense	probably null
R8958:Rab11fip1	UTSW	8	27,644,940 (GRCm39)	missense	possibly damaging	0.91
R9025:Rab11fip1	UTSW	8	27,644,736 (GRCm39)	missense	probably benign	0.00
R9093:Rab11fip1	UTSW	8	27,633,355 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTCTGCAGACTCGACTTGGA -3'
(R):5'- GCGCATTTGTGTAAGAGGTT -3'

Sequencing Primer
(F):5'- GACTCGACTTGGAAAACAAAGTCTTG -3'
(R):5'- CGCATTTGTGTAAGAGGTTAGAGTG -3'

Posted On

2019-10-07