Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4151001:Gmppa'

556996

Institutional Source

Beutler Lab

Gene Symbol

Gmppa

Ensembl Gene

ENSMUSG00000033021

Gene Name

GDP-mannose pyrophosphorylase A

Synonyms

1810012N01Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.452) question?

Stock #

PIT4151001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

75412574-75419823 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 75418468 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 284 (R284*)

Ref Sequence

ENSEMBL: ENSMUSP00000035564 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037796] [ENSMUST00000113584] [ENSMUST00000131545] [ENSMUST00000133418] [ENSMUST00000140287] [ENSMUST00000141124] [ENSMUST00000143730] [ENSMUST00000144874] [ENSMUST00000145166] [ENSMUST00000188097]

AlphaFold

Q922H4

Predicted Effect

probably null
Transcript: ENSMUST00000037796
AA Change: R284*

SMART Domains

Protein: ENSMUSP00000035564
Gene: ENSMUSG00000033021
AA Change: R284*

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	3	209	1.2e-30	PFAM
Pfam:NTP_transf_3	4	206	4.1e-10	PFAM
Pfam:Hexapep	280	321	2.6e-8	PFAM
low complexity region	357	365	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000113584
AA Change: R284*

SMART Domains

Protein: ENSMUSP00000109214
Gene: ENSMUSG00000033021
AA Change: R284*

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	3	209	1.6e-28	PFAM
Pfam:NTP_transf_3	4	206	1.6e-9	PFAM
Pfam:Hexapep	286	321	4.3e-8	PFAM
low complexity region	357	365	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131545

SMART Domains

Protein: ENSMUSP00000120841
Gene: ENSMUSG00000033021

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	3	209	7.2e-31	PFAM
Pfam:NTP_transf_3	4	157	1.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133418

SMART Domains

Protein: ENSMUSP00000122443
Gene: ENSMUSG00000033021

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	3	209	6.8e-31	PFAM
Pfam:NTP_transf_3	4	204	1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140287

SMART Domains

Protein: ENSMUSP00000121552
Gene: ENSMUSG00000033021

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	3	161	1.7e-22	PFAM
Pfam:NTP_transf_3	4	155	6.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141124

SMART Domains

Protein: ENSMUSP00000116783
Gene: ENSMUSG00000033021

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	3	72	1.1e-13	PFAM
Pfam:NTP_transf_3	4	71	1.9e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143730

SMART Domains

Protein: ENSMUSP00000114375
Gene: ENSMUSG00000033021

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	3	196	1.1e-30	PFAM
Pfam:NTP_transf_3	4	173	9.2e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000144874

SMART Domains

Protein: ENSMUSP00000121418
Gene: ENSMUSG00000033021

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	1	174	6.6e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145166

SMART Domains

Protein: ENSMUSP00000116754
Gene: ENSMUSG00000033021

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	3	91	5.2e-15	PFAM
Pfam:NTP_transf_3	4	88	1.4e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188097

SMART Domains

Protein: ENSMUSP00000139936
Gene: ENSMUSG00000033021

Domain	Start	End	E-Value	Type
Pfam:NTP_transferase	1	150	2.3e-15	PFAM
Pfam:NTP_transf_3	2	142	9.8e-7	PFAM

Coding Region Coverage

1x: 92.7%
3x: 90.4%
10x: 84.6%
20x: 72.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,930,670 (GRCm39)	L1389P	probably damaging	Het
Acot10	C	T	15: 20,666,684 (GRCm39)	G19D	probably damaging	Het
Adam20	G	A	8: 41,248,081 (GRCm39)	V64I	possibly damaging	Het
Ak6	T	A	13: 100,791,603 (GRCm39)	D15E	probably damaging	Het
Atp1a2	A	G	1: 172,118,288 (GRCm39)	Y129H	probably damaging	Het
Caskin1	C	T	17: 24,721,193 (GRCm39)	T511I	probably damaging	Het
Casp9	C	T	4: 141,521,259 (GRCm39)	R32*	probably null	Het
Ccdc40	A	G	11: 119,133,277 (GRCm39)	E445G	probably damaging	Het
Cct8	T	C	16: 87,284,545 (GRCm39)	E273G	probably damaging	Het
Chd5	G	A	4: 152,462,986 (GRCm39)	V1380I	probably damaging	Het
Coro2b	C	T	9: 62,336,286 (GRCm39)	G272D	probably damaging	Het
Cyp4a10	C	A	4: 115,382,072 (GRCm39)	H251Q	probably damaging	Het
Dgki	A	T	6: 37,040,916 (GRCm39)	H298Q	probably benign	Het
Dnmt3b	T	G	2: 153,526,399 (GRCm39)		probably null	Het
Dzip1	A	G	14: 119,160,200 (GRCm39)	F3L	probably damaging	Het
Egf	A	G	3: 129,496,198 (GRCm39)	S807P	probably benign	Het
Emc10	C	T	7: 44,142,627 (GRCm39)	R105H		Het
Enthd1	T	C	15: 80,336,937 (GRCm39)	E499G	probably damaging	Het
Eps8l1	G	A	7: 4,474,414 (GRCm39)	S295N	probably benign	Het
Fer1l5	T	A	1: 36,450,728 (GRCm39)	M1242K	probably benign	Het
Gm3415	A	G	5: 146,493,079 (GRCm39)	R36G	probably benign	Het
Gm5797	C	A	14: 7,330,318 (GRCm38)	M114I	possibly damaging	Het
Homer1	G	C	13: 93,485,724 (GRCm39)	K118N	probably damaging	Het
Ivl	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	3: 92,479,608 (GRCm39)		probably benign	Het
Kcnc4	G	A	3: 107,366,019 (GRCm39)	A63V	probably damaging	Het
Kif11	T	A	19: 37,373,045 (GRCm39)	I88N	probably damaging	Het
Krba1	T	C	6: 48,379,831 (GRCm39)	F9S	probably damaging	Het
Nckap1	A	G	2: 80,350,714 (GRCm39)		probably null	Het
Nox4	A	T	7: 86,954,097 (GRCm39)	Y134F	probably benign	Het
Or4a79	T	A	2: 89,552,237 (GRCm39)	T73S	probably benign	Het
Or51f23c-ps1	T	C	7: 102,431,465 (GRCm39)	S261P	probably benign	Het
Or52e15	A	G	7: 104,645,424 (GRCm39)	L229P	probably damaging	Het
Or5m13b	T	A	2: 85,754,386 (GRCm39)	M258K	probably damaging	Het
Or5m8	T	C	2: 85,822,538 (GRCm39)	C126R	probably damaging	Het
Or8k22	G	T	2: 86,163,173 (GRCm39)	H176N	possibly damaging	Het
Pcdh17	G	T	14: 84,684,798 (GRCm39)	V422L	probably benign	Het
Pcx	T	A	19: 4,653,157 (GRCm39)	V275E	probably damaging	Het
Pde6h	A	T	6: 136,938,185 (GRCm39)	M53L	possibly damaging	Het
Phactr3	A	T	2: 177,975,861 (GRCm39)	E535D	probably damaging	Het
Pkn3	C	A	2: 29,980,539 (GRCm39)	T810N	probably damaging	Het
Pnpla5	T	C	15: 84,002,827 (GRCm39)	E252G	probably damaging	Het
Pramel21	T	A	4: 143,342,722 (GRCm39)	C276*	probably null	Het
Psg17	A	G	7: 18,548,530 (GRCm39)	S414P	probably benign	Het
Pzp	T	A	6: 128,502,259 (GRCm39)	Q30L	probably benign	Het
Reln	A	T	5: 22,491,894 (GRCm39)	F113I	possibly damaging	Het
Ret	T	C	6: 118,141,702 (GRCm39)	D975G	probably benign	Het
Sarnp	A	G	10: 128,713,235 (GRCm39)	I209V	probably benign	Het
Sorl1	A	T	9: 41,879,918 (GRCm39)	V2210D	probably damaging	Het
Stard9	C	T	2: 120,533,237 (GRCm39)	Q3165*	probably null	Het
Tmem64	A	T	4: 15,283,159 (GRCm39)	I319F	probably damaging	Het
Vmn1r176	A	T	7: 23,534,808 (GRCm39)	V115D	probably damaging	Het
Vmn1r2	A	G	4: 3,172,623 (GRCm39)	T181A	probably benign	Het
Vmn2r2	T	C	3: 64,024,334 (GRCm39)	E749G	possibly damaging	Het
Vps35	G	A	8: 86,010,677 (GRCm39)	T222I	possibly damaging	Het
Zfp532	A	G	18: 65,757,485 (GRCm39)	T473A	probably damaging	Het
Zfyve16	A	G	13: 92,657,712 (GRCm39)	V733A	probably damaging	Het
Zranb1	T	A	7: 132,551,723 (GRCm39)	S125T	probably benign	Het

Other mutations in Gmppa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01871:Gmppa	APN	1	75,413,661 (GRCm39)	missense	probably damaging	0.98
IGL02418:Gmppa	APN	1	75,415,664 (GRCm39)	missense	probably damaging	1.00
IGL02899:Gmppa	APN	1	75,418,474 (GRCm39)	splice site	probably null
IGL03009:Gmppa	APN	1	75,416,014 (GRCm39)	missense	probably damaging	1.00
R0708:Gmppa	UTSW	1	75,419,218 (GRCm39)	missense	probably damaging	1.00
R1352:Gmppa	UTSW	1	75,417,178 (GRCm39)	missense	probably benign	0.00
R1886:Gmppa	UTSW	1	75,419,152 (GRCm39)	missense	probably damaging	1.00
R2000:Gmppa	UTSW	1	75,418,172 (GRCm39)	missense	probably damaging	1.00
R3053:Gmppa	UTSW	1	75,418,400 (GRCm39)	missense	probably benign	0.04
R4301:Gmppa	UTSW	1	75,419,140 (GRCm39)	missense	possibly damaging	0.77
R5054:Gmppa	UTSW	1	75,416,015 (GRCm39)	nonsense	probably null
R5791:Gmppa	UTSW	1	75,418,899 (GRCm39)	missense	possibly damaging	0.58
R6801:Gmppa	UTSW	1	75,418,391 (GRCm39)	missense	possibly damaging	0.94
R7806:Gmppa	UTSW	1	75,415,581 (GRCm39)	missense	probably damaging	1.00
R8105:Gmppa	UTSW	1	75,413,641 (GRCm39)	missense	possibly damaging	0.82
R8747:Gmppa	UTSW	1	75,416,025 (GRCm39)	missense	probably damaging	0.97
R8878:Gmppa	UTSW	1	75,414,932 (GRCm39)	missense	probably damaging	1.00
R9491:Gmppa	UTSW	1	75,415,602 (GRCm39)	missense	probably damaging	0.98
R9541:Gmppa	UTSW	1	75,417,094 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACTTAAGAATGTGGCATTTGGG -3'
(R):5'- TGGGGCCACAGCTTACTTAC -3'

Sequencing Primer
(F):5'- CATTTGGGGTGGTAGGCACAG -3'
(R):5'- AGCTTACTTACCACAGCTGATGGG -3'

Posted On

2019-06-07