Mutagenetix > Incidental Mutation

Incidental Mutation 'R9367:Mip'

709066

Institutional Source

Beutler Lab

Gene Symbol

Mip

Ensembl Gene

ENSMUSG00000025389

Gene Name

major intrinsic protein of lens fiber

Synonyms

Svl, Aqp0, shrivelled, Cts, lens opacity, aquaporin 0, Lop, MIP26

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R9367 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128061707-128067681 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 128063029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 158 (G158V)

Ref Sequence

ENSEMBL: ENSMUSP00000026455 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026455] [ENSMUST00000055539] [ENSMUST00000105242] [ENSMUST00000105243] [ENSMUST00000105244] [ENSMUST00000125289]

AlphaFold

P51180

Predicted Effect

probably damaging
Transcript: ENSMUST00000026455
AA Change: G158V

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

SMART Domains

Protein: ENSMUSP00000026455
Gene: ENSMUSG00000025389
AA Change: G158V

Domain	Start	End	E-Value	Type
Pfam:MIP	3	219	5.6e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000055539

SMART Domains

Protein: ENSMUSP00000058021
Gene: ENSMUSG00000039994

Domain	Start	End	E-Value	Type
Pfam:TIMELESS	21	285	2.2e-102	PFAM
low complexity region	381	395	N/A	INTRINSIC
low complexity region	528	537	N/A	INTRINSIC
low complexity region	653	682	N/A	INTRINSIC
Pfam:TIMELESS_C	722	1197	1.9e-186	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105242

SMART Domains

Protein: ENSMUSP00000100876
Gene: ENSMUSG00000039994

Domain	Start	End	E-Value	Type
Pfam:TIMELESS	21	285	2.1e-102	PFAM
low complexity region	381	395	N/A	INTRINSIC
low complexity region	528	537	N/A	INTRINSIC
low complexity region	653	682	N/A	INTRINSIC
Pfam:TIMELESS_C	722	1196	4.4e-187	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105243

SMART Domains

Protein: ENSMUSP00000100877
Gene: ENSMUSG00000039994

Domain	Start	End	E-Value	Type
Pfam:TIMELESS	21	285	7.8e-104	PFAM
low complexity region	381	395	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105244

SMART Domains

Protein: ENSMUSP00000100878
Gene: ENSMUSG00000039994

Domain	Start	End	E-Value	Type
Pfam:TIMELESS	21	285	2.3e-103	PFAM
low complexity region	381	395	N/A	INTRINSIC
low complexity region	528	537	N/A	INTRINSIC
low complexity region	653	682	N/A	INTRINSIC
Pfam:TIMELESS_C	722	1196	5e-187	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125289

SMART Domains

Protein: ENSMUSP00000132079
Gene: ENSMUSG00000039994

Domain	Start	End	E-Value	Type
Pfam:TIMELESS	1	123	3.6e-47	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Major intrinsic protein is a member of the water-transporting aquaporins as well as the original member of the MIP family of channel proteins. The function of the fiber cell membrane protein encoded by this gene is undetermined, yet this protein is speculated to play a role in intracellular communication. The MIP protein is expressed in the ocular lens and is required for correct lens function. This gene has been mapped among aquaporins AQP2, AQP5, and AQP6, in a potential gene cluster at 12q13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes have microphthalmia and lens opacity. Other defects may include degeneration of lens fiber cells, vacuolization of lens fibers and reduced gamma:alpha crystallin ratio. Heterozygotes have less severe forms of lens cataract and microphthalmia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
4930568D16Rik	A	T	2: 35,244,939 (GRCm39)	Y138N	probably benign	Het
Abca4	T	C	3: 121,838,197 (GRCm39)	M1T	probably null	Het
Acer3	A	G	7: 97,908,621 (GRCm39)	V104A	probably damaging	Het
Agpat4	A	G	17: 12,435,597 (GRCm39)	E287G	probably benign	Het
Akip1	C	T	7: 109,308,156 (GRCm39)	A146V	unknown	Het
Ank2	T	C	3: 126,738,678 (GRCm39)	N2402S	unknown	Het
Arhgdig	A	T	17: 26,418,451 (GRCm39)	Y177*	probably null	Het
Arhgef38	T	A	3: 132,847,998 (GRCm39)	T355S	unknown	Het
Atp8a2	C	A	14: 60,249,827 (GRCm39)		probably null	Het
Atp8b4	A	G	2: 126,216,430 (GRCm39)	I672T	probably damaging	Het
Baat	T	A	4: 49,503,008 (GRCm39)	D38V	probably damaging	Het
Bcl9	T	C	3: 97,117,861 (GRCm39)	S278G	probably benign	Het
Ccdc150	C	T	1: 54,324,760 (GRCm39)	L350F	probably damaging	Het
Ceacam20	T	G	7: 19,705,533 (GRCm39)	S175A	probably damaging	Het
Chd6	A	T	2: 160,871,784 (GRCm39)	I217K	possibly damaging	Het
Cnppd1	T	C	1: 75,117,617 (GRCm39)	I35V	probably benign	Het
Col15a1	T	C	4: 47,245,603 (GRCm39)	I118T	probably damaging	Het
Csmd3	A	T	15: 47,567,564 (GRCm39)	Y1289N		Het
Dio2	T	C	12: 90,696,587 (GRCm39)	T134A	probably benign	Het
Dnaaf9	A	T	2: 130,581,380 (GRCm39)	N678K	probably benign	Het
Dnah17	A	G	11: 117,987,464 (GRCm39)	V1282A	possibly damaging	Het
Dnah17	A	G	11: 118,012,212 (GRCm39)	S517P	possibly damaging	Het
Dync2h1	C	T	9: 7,125,730 (GRCm39)		probably null	Het
Echdc2	C	A	4: 108,036,111 (GRCm39)	P274Q	probably damaging	Het
Fam117a	T	A	11: 95,271,570 (GRCm39)	C381S	probably damaging	Het
Fbxl12	A	G	9: 20,550,130 (GRCm39)	F122S	probably damaging	Het
Gen1	G	A	12: 11,291,309 (GRCm39)	Q892*	probably null	Het
Gimap4	A	G	6: 48,667,746 (GRCm39)	Y167C	probably damaging	Het
Gle1	T	A	2: 29,839,014 (GRCm39)	F476L	probably damaging	Het
Gpr135	A	T	12: 72,117,473 (GRCm39)	V98E	possibly damaging	Het
Greb1l	A	T	18: 10,522,130 (GRCm39)	H742L	probably benign	Het
Habp2	G	T	19: 56,304,781 (GRCm39)	C392F	probably damaging	Het
Hapln3	G	T	7: 78,771,455 (GRCm39)	R145S	probably damaging	Het
Ikbkb	A	G	8: 23,171,711 (GRCm39)	C179R	probably damaging	Het
Kat6a	A	T	8: 23,400,156 (GRCm39)	I306L	possibly damaging	Het
Lmo3	A	T	6: 138,342,958 (GRCm39)	Y140*	probably null	Het
Lrrc32	T	A	7: 98,148,937 (GRCm39)	N572K	probably damaging	Het
Lrrn1	T	A	6: 107,545,093 (GRCm39)	M297K	probably damaging	Het
Magi2	G	A	5: 20,766,308 (GRCm39)	V676I	probably damaging	Het
Mdga1	T	C	17: 30,051,282 (GRCm39)	*957W	probably null	Het
Mmp14	T	C	14: 54,677,960 (GRCm39)	I527T	probably benign	Het
Mmp27	G	A	9: 7,573,550 (GRCm39)	G188D	probably damaging	Het
Mylk4	A	T	13: 32,960,236 (GRCm39)	C17S	possibly damaging	Het
Naa50	T	G	16: 43,977,554 (GRCm39)	I94R	probably damaging	Het
Nyap1	A	T	5: 137,734,248 (GRCm39)	Y262N	probably damaging	Het
Obsl1	A	G	1: 75,466,177 (GRCm39)	V1517A	probably benign	Het
P4htm	T	A	9: 108,459,147 (GRCm39)	M262L	probably benign	Het
Pappa2	T	C	1: 158,784,542 (GRCm39)	E156G	probably benign	Het
Pcdhb15	A	T	18: 37,607,971 (GRCm39)	Y401F	possibly damaging	Het
Pde2a	G	A	7: 101,160,361 (GRCm39)	R845H	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Penk	C	T	4: 4,134,097 (GRCm39)	M183I	probably benign	Het
Pole	T	C	5: 110,444,955 (GRCm39)	V437A	probably damaging	Het
Ppp1r7	T	C	1: 93,279,262 (GRCm39)	I114T	probably damaging	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Pwp2	G	A	10: 78,014,827 (GRCm39)	Q386*	probably null	Het
Rad17	A	T	13: 100,769,720 (GRCm39)	S280T	possibly damaging	Het
Rhebl1	C	T	15: 98,776,414 (GRCm39)	E128K	possibly damaging	Het
Sema3e	G	T	5: 14,291,084 (GRCm39)	V615L	probably benign	Het
Slc22a2	A	T	17: 12,824,837 (GRCm39)	Y233F	probably benign	Het
Ssu2	A	G	6: 112,357,975 (GRCm39)	S123P	probably damaging	Het
Stk10	A	G	11: 32,538,878 (GRCm39)	E239G		Het
Surf6	G	T	2: 26,782,380 (GRCm39)	Q316K	probably damaging	Het
Tcerg1	G	A	18: 42,685,573 (GRCm39)	D637N	possibly damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tnxb	C	A	17: 34,931,993 (GRCm39)	F2175L	probably damaging	Het
Trp53i11	G	C	2: 93,029,273 (GRCm39)	V91L	probably benign	Het
Tspan9	A	G	6: 127,944,102 (GRCm39)	V66A	probably damaging	Het
Usp16	C	T	16: 87,261,669 (GRCm39)	T95M	probably benign	Het
Usp9y	A	T	Y: 1,324,982 (GRCm39)	F1691Y	probably damaging	Het
Uty	A	T	Y: 1,099,584 (GRCm39)	L1204I	possibly damaging	Het
Vmn1r192	A	T	13: 22,371,800 (GRCm39)	V140D	possibly damaging	Het
Vps54	T	C	11: 21,250,234 (GRCm39)	V552A	probably benign	Het
Vps8	T	C	16: 21,340,668 (GRCm39)	V804A	possibly damaging	Het
Zfp869	A	C	8: 70,161,057 (GRCm39)	L33R	probably damaging	Het

Other mutations in Mip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0963:Mip	UTSW	10	128,061,854 (GRCm39)	missense	probably benign	0.00
R1952:Mip	UTSW	10	128,061,772 (GRCm39)	missense	possibly damaging	0.91
R3110:Mip	UTSW	10	128,061,875 (GRCm39)	nonsense	probably null
R3111:Mip	UTSW	10	128,061,875 (GRCm39)	nonsense	probably null
R3112:Mip	UTSW	10	128,061,875 (GRCm39)	nonsense	probably null
R4646:Mip	UTSW	10	128,062,922 (GRCm39)	missense	probably benign	0.00
R4648:Mip	UTSW	10	128,062,922 (GRCm39)	missense	probably benign	0.00
R5650:Mip	UTSW	10	128,061,934 (GRCm39)	missense	possibly damaging	0.74
R6227:Mip	UTSW	10	128,061,875 (GRCm39)	nonsense	probably null
R8124:Mip	UTSW	10	128,062,070 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- CCCGGGAACTGAAGTGTAAG -3'
(R):5'- AAGTTTATCCCTTTGTACCAACTGG -3'

Sequencing Primer
(F):5'- GTGCCTGCTTCAAGTGGGAAC -3'
(R):5'- GGGTCCCTAGATTCCTTGA -3'

Posted On

2022-04-18