Mutagenetix > Incidental Mutation

Incidental Mutation 'R1806:Pomt1'

203432

Institutional Source

Beutler Lab

Gene Symbol

Pomt1

Ensembl Gene

ENSMUSG00000039254

Gene Name

protein-O-mannosyltransferase 1

Synonyms

MMRRC Submission

039835-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R1806 (G1)

Quality Score

178

Status

Validated

Chromosome

Chromosomal Location

32126652-32145017 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32131680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 123 (V123E)

Ref Sequence

ENSEMBL: ENSMUSP00000116117 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036473] [ENSMUST00000123740] [ENSMUST00000146485]

AlphaFold

Q8R2R1

Predicted Effect

probably damaging
Transcript: ENSMUST00000036473
AA Change: V121E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038722
Gene: ENSMUSG00000039254
AA Change: V121E

Domain	Start	End	E-Value	Type
Pfam:PMT	42	289	2.8e-96	PFAM
MIR	318	381	7.45e-8	SMART
MIR	392	449	1.65e-9	SMART
MIR	456	513	6.2e-5	SMART
Pfam:PMT_4TMC	542	740	3.9e-50	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000123740
AA Change: V99E

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000116543
Gene: ENSMUSG00000039254
AA Change: V99E

Domain	Start	End	E-Value	Type
Pfam:PMT	20	233	1.3e-84	PFAM
Pfam:PMT_2	64	229	3.2e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126784

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129163

Predicted Effect

probably benign
Transcript: ENSMUST00000132516

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132853

Predicted Effect

probably damaging
Transcript: ENSMUST00000146485
AA Change: V123E

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

SMART Domains

Protein: ENSMUSP00000116117
Gene: ENSMUSG00000039254
AA Change: V123E

Domain	Start	End	E-Value	Type
Pfam:PMT	44	227	9e-73	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154684

Meta Mutation Damage Score

0.9694

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 91.2%

Validation Efficiency

96% (77/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygous mutation of this gene with one allele results in embryonic lethality with disruption of Reichert's membrane. Heterozygous mutation with a second allele results in ectasia in kidney and liver veins and an increased neutrophil count. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	C	3: 59,784,571 (GRCm39)	L348P	probably damaging	Het
Adamts15	C	A	9: 30,816,111 (GRCm39)	C616F	probably damaging	Het
Adarb1	T	C	10: 77,158,099 (GRCm39)	N116S	probably damaging	Het
Add2	C	T	6: 86,095,639 (GRCm39)	S437L	probably damaging	Het
Adra1d	T	A	2: 131,388,069 (GRCm39)	R495S	probably benign	Het
Agk	C	T	6: 40,364,429 (GRCm39)	T309I	probably damaging	Het
Aqr	T	C	2: 113,992,133 (GRCm39)	Y81C	probably damaging	Het
Bak1	G	A	17: 27,240,242 (GRCm39)	Q142*	probably null	Het
Bckdha	A	G	7: 25,330,845 (GRCm39)	V307A	probably damaging	Het
Camk2n2	C	A	16: 20,438,948 (GRCm39)	G72V	probably benign	Het
Cd276	A	T	9: 58,434,845 (GRCm39)		probably benign	Het
Cd2ap	G	A	17: 43,149,649 (GRCm39)	Q122*	probably null	Het
Cdan1	T	A	2: 120,561,907 (GRCm39)		probably benign	Het
Cdh3	T	C	8: 107,263,547 (GRCm39)	S156P	probably benign	Het
Chil4	T	A	3: 106,117,959 (GRCm39)		probably benign	Het
Col11a1	C	T	3: 113,951,791 (GRCm39)	R1074C	probably damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Fcrlb	T	C	1: 170,735,096 (GRCm39)	T344A	probably benign	Het
Fras1	T	A	5: 96,861,829 (GRCm39)		probably benign	Het
Fras1	G	T	5: 96,912,835 (GRCm39)	V3380F	possibly damaging	Het
Galnt9	A	G	5: 110,767,119 (GRCm39)	D530G	possibly damaging	Het
Gja10	A	T	4: 32,601,135 (GRCm39)	S416R	probably benign	Het
Gm10549	T	A	18: 33,603,841 (GRCm39)	V108E	unknown	Het
Hook3	A	T	8: 26,558,687 (GRCm39)	L59Q	probably damaging	Het
Hpf1	T	A	8: 61,353,154 (GRCm39)	D178E	probably benign	Het
Hsd17b7	T	C	1: 169,788,698 (GRCm39)	N173S	possibly damaging	Het
Hsph1	A	G	5: 149,553,454 (GRCm39)	F236L	probably damaging	Het
Kcnk12	G	T	17: 88,053,537 (GRCm39)	T375K	probably benign	Het
Klra3	A	T	6: 130,304,033 (GRCm39)	S220T	probably damaging	Het
Lhx1	A	T	11: 84,414,967 (GRCm39)	L12Q	probably damaging	Het
Lnx1	A	G	5: 74,766,710 (GRCm39)	L468P	probably damaging	Het
Ltbp3	T	A	19: 5,803,970 (GRCm39)	C827*	probably null	Het
Mical1	C	T	10: 41,354,210 (GRCm39)	A53V	probably damaging	Het
Mmp10	A	T	9: 7,506,502 (GRCm39)	H326L	probably benign	Het
Mpl	A	T	4: 118,300,729 (GRCm39)	M600K	possibly damaging	Het
Muc5b	T	A	7: 141,419,230 (GRCm39)	D4004E	possibly damaging	Het
Myo5b	A	T	18: 74,710,680 (GRCm39)	H98L	possibly damaging	Het
Nbeal1	A	G	1: 60,323,251 (GRCm39)	T2110A	probably damaging	Het
Nedd4l	C	A	18: 65,345,862 (GRCm39)	R825S	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or4k35	A	T	2: 111,100,622 (GRCm39)	I30N	possibly damaging	Het
Or52e19	T	A	7: 102,959,432 (GRCm39)	L168Q	probably damaging	Het
Or8k41	A	T	2: 86,313,483 (GRCm39)	I201N	probably damaging	Het
Otog	A	T	7: 45,940,361 (GRCm39)		probably null	Het
Parp2	T	A	14: 51,056,836 (GRCm39)	L320H	probably damaging	Het
Poglut3	T	C	9: 53,307,150 (GRCm39)	Y365H	probably damaging	Het
Pola2	C	T	19: 5,993,250 (GRCm39)		probably null	Het
Poln	A	T	5: 34,264,494 (GRCm39)		probably benign	Het
Prom2	T	C	2: 127,374,802 (GRCm39)	Y578C	probably damaging	Het
Prss23	T	C	7: 89,159,599 (GRCm39)	T157A	probably damaging	Het
Sdk1	T	A	5: 141,598,950 (GRCm39)	V205E	probably damaging	Het
Sdk1	A	G	5: 142,147,681 (GRCm39)	K1771R	probably benign	Het
Sidt1	A	T	16: 44,102,234 (GRCm39)	S309T	possibly damaging	Het
Sirpa	T	A	2: 129,457,432 (GRCm39)	F169I	probably damaging	Het
Slc8a1	T	C	17: 81,955,916 (GRCm39)	N374S	probably damaging	Het
Sp110	C	T	1: 85,523,831 (GRCm39)		probably null	Het
Stard9	A	G	2: 120,509,934 (GRCm39)		probably null	Het
Synpr	A	G	14: 13,563,082 (GRCm38)	N105S	probably damaging	Het
Tbc1d16	T	C	11: 119,046,927 (GRCm39)	Y440C	probably damaging	Het
Trabd	A	G	15: 88,969,824 (GRCm39)	I313V	possibly damaging	Het
Trappc10	T	C	10: 78,046,610 (GRCm39)	R430G	probably damaging	Het
Trim50	A	G	5: 135,387,743 (GRCm39)	E145G	probably benign	Het
Uba2	A	T	7: 33,862,624 (GRCm39)	F105I	probably damaging	Het
Uba3	A	G	6: 97,176,230 (GRCm39)	V92A	possibly damaging	Het
Uhmk1	T	C	1: 170,038,628 (GRCm39)	K153R	probably damaging	Het
Vmn2r3	T	C	3: 64,194,810 (GRCm39)	K8R	possibly damaging	Het
Vmn2r3	T	A	3: 64,182,893 (GRCm39)	M269L	probably benign	Het
Xpot	G	T	10: 121,443,543 (GRCm39)		probably benign	Het
Zfp128	A	G	7: 12,624,949 (GRCm39)	Y439C	probably benign	Het
Zfy1	T	A	Y: 725,620 (GRCm39)	H715L	possibly damaging	Het
Zmym1	A	C	4: 126,941,872 (GRCm39)	L839V	probably damaging	Het

Other mutations in Pomt1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Pomt1	APN	2	32,131,784 (GRCm39)	missense	probably benign
IGL01926:Pomt1	APN	2	32,133,484 (GRCm39)	missense	probably benign	0.23
IGL02237:Pomt1	APN	2	32,135,689 (GRCm39)	missense	probably benign	0.18
IGL02281:Pomt1	APN	2	32,138,658 (GRCm39)	missense	possibly damaging	0.95
IGL03001:Pomt1	APN	2	32,134,338 (GRCm39)	missense	probably benign
IGL03216:Pomt1	APN	2	32,132,955 (GRCm39)	missense	probably damaging	0.99
IGL03343:Pomt1	APN	2	32,143,724 (GRCm39)	splice site	probably benign
R0049:Pomt1	UTSW	2	32,142,023 (GRCm39)	missense	possibly damaging	0.88
R0049:Pomt1	UTSW	2	32,142,023 (GRCm39)	missense	possibly damaging	0.88
R0975:Pomt1	UTSW	2	32,143,907 (GRCm39)	critical splice donor site	probably null
R1199:Pomt1	UTSW	2	32,140,504 (GRCm39)	missense	probably benign
R1414:Pomt1	UTSW	2	32,133,622 (GRCm39)	splice site	probably benign
R1421:Pomt1	UTSW	2	32,126,765 (GRCm39)	unclassified	probably benign
R2173:Pomt1	UTSW	2	32,140,912 (GRCm39)	missense	probably damaging	1.00
R2209:Pomt1	UTSW	2	32,140,874 (GRCm39)	missense	possibly damaging	0.90
R2302:Pomt1	UTSW	2	32,133,671 (GRCm39)	missense	probably benign	0.00
R3084:Pomt1	UTSW	2	32,134,252 (GRCm39)	missense	probably benign	0.02
R3774:Pomt1	UTSW	2	32,134,262 (GRCm39)	missense	possibly damaging	0.93
R3933:Pomt1	UTSW	2	32,135,631 (GRCm39)	missense	probably benign	0.00
R4177:Pomt1	UTSW	2	32,138,689 (GRCm39)	missense	probably damaging	0.99
R4626:Pomt1	UTSW	2	32,144,424 (GRCm39)	missense	possibly damaging	0.84
R4645:Pomt1	UTSW	2	32,132,888 (GRCm39)	intron	probably benign
R4864:Pomt1	UTSW	2	32,142,004 (GRCm39)	missense	probably benign	0.02
R4911:Pomt1	UTSW	2	32,131,691 (GRCm39)	missense	probably damaging	0.97
R5143:Pomt1	UTSW	2	32,144,341 (GRCm39)	missense	probably benign	0.23
R5288:Pomt1	UTSW	2	32,134,311 (GRCm39)	nonsense	probably null
R5385:Pomt1	UTSW	2	32,134,311 (GRCm39)	nonsense	probably null
R5718:Pomt1	UTSW	2	32,138,704 (GRCm39)	missense	possibly damaging	0.91
R5735:Pomt1	UTSW	2	32,133,517 (GRCm39)	missense	probably damaging	1.00
R5754:Pomt1	UTSW	2	32,137,602 (GRCm39)	missense	probably damaging	0.99
R5817:Pomt1	UTSW	2	32,138,691 (GRCm39)	missense	probably damaging	0.97
R6304:Pomt1	UTSW	2	32,140,802 (GRCm39)	missense	probably damaging	1.00
R6477:Pomt1	UTSW	2	32,138,728 (GRCm39)	splice site	probably null
R6793:Pomt1	UTSW	2	32,132,961 (GRCm39)	missense	probably damaging	1.00
R6918:Pomt1	UTSW	2	32,142,873 (GRCm39)	splice site	probably null
R7114:Pomt1	UTSW	2	32,143,848 (GRCm39)	missense	probably benign	0.41
R8140:Pomt1	UTSW	2	32,134,309 (GRCm39)	missense	probably damaging	1.00
R8380:Pomt1	UTSW	2	32,135,619 (GRCm39)	missense	probably damaging	1.00
R9082:Pomt1	UTSW	2	32,142,973 (GRCm39)	missense	probably damaging	0.98
R9578:Pomt1	UTSW	2	32,133,543 (GRCm39)	critical splice donor site	probably null
Z1177:Pomt1	UTSW	2	32,127,101 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CCACATCTATGCTCGGTGAG -3'
(R):5'- TTCTCTTCACAGGCAGGTGG -3'

Sequencing Primer
(F):5'- GCTGATATTTACTACCCAGAGAGGC -3'
(R):5'- GGCAGTGACCCAAGGCTTAC -3'

Posted On

2014-06-23