Mutagenetix > Incidental Mutation

Incidental Mutation 'R2291:Neu1'

244391

Institutional Source

Beutler Lab

Gene Symbol

Neu1

Ensembl Gene

ENSMUSG00000007038

Gene Name

neuraminidase 1

Synonyms

sialidase 1, Bat7, Map-2, Aglp, lysosomal sialidase, G9, Apl, Neu-1, Bat-7

MMRRC Submission

040290-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2291 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35150229-35154929 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35151742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 179 (R179W)

Ref Sequence

ENSEMBL: ENSMUSP00000007253 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007249] [ENSMUST00000007253] [ENSMUST00000169230]

AlphaFold

O35657

Predicted Effect

probably benign
Transcript: ENSMUST00000007249

SMART Domains

Protein: ENSMUSP00000007249
Gene: ENSMUSG00000007034

Domain	Start	End	E-Value	Type
transmembrane domain	34	56	N/A	INTRINSIC
low complexity region	93	102	N/A	INTRINSIC
transmembrane domain	226	248	N/A	INTRINSIC
transmembrane domain	250	272	N/A	INTRINSIC
Pfam:Choline_transpo	311	674	5.4e-119	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000007253
AA Change: R179W

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000007253
Gene: ENSMUSG00000007038
AA Change: R179W

Domain	Start	End	E-Value	Type
signal peptide	1	41	N/A	INTRINSIC
Pfam:BNR_3	74	249	1e-16	PFAM
Pfam:BNR_2	82	377	1.8e-52	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169230

SMART Domains

Protein: ENSMUSP00000132965
Gene: ENSMUSG00000007034

Domain	Start	End	E-Value	Type
transmembrane domain	74	96	N/A	INTRINSIC
transmembrane domain	98	120	N/A	INTRINSIC
Pfam:Choline_transpo	157	524	3.9e-129	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173269

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173664

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174715

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

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 a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice develop features of early-onset lysosomal storage disease (sialidosis), including severe nephropathy, edema, splenomegaly, kyphosis and oligosacchariduria, and display myoclonus, lordosis, extramedullary hematopoiesis, dyspnea, weight loss, gait defects, tremors and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	T	3: 124,207,450 (GRCm39)	I247N	probably damaging	Het
Afdn	A	G	17: 14,109,153 (GRCm39)	K1559E	probably damaging	Het
Ankhd1	C	T	18: 36,777,386 (GRCm39)	T1523I	probably benign	Het
Apc	T	A	18: 34,445,544 (GRCm39)	N795K	probably benign	Het
Arhgap26	G	T	18: 39,490,751 (GRCm39)		probably benign	Het
Atm	C	T	9: 53,402,209 (GRCm39)		probably null	Het
Atp1a4	T	C	1: 172,072,473 (GRCm39)	N394D	probably damaging	Het
Brinp3	T	A	1: 146,776,812 (GRCm39)	S420T	possibly damaging	Het
Cacna1d	G	T	14: 29,764,299 (GRCm39)	R2078S	probably damaging	Het
Cacna1e	T	C	1: 154,279,429 (GRCm39)	D1720G	probably damaging	Het
Camk2a	T	A	18: 61,097,031 (GRCm39)	V38E	probably damaging	Het
Camk4	G	A	18: 33,240,996 (GRCm39)		probably null	Het
Ccr7	G	A	11: 99,036,161 (GRCm39)	R254C	probably damaging	Het
Celf5	C	T	10: 81,302,881 (GRCm39)	G267D	probably damaging	Het
Cfap65	G	A	1: 74,965,634 (GRCm39)	P459S	probably damaging	Het
Chd1l	T	C	3: 97,498,599 (GRCm39)	K267E	probably damaging	Het
Chl1	T	A	6: 103,692,354 (GRCm39)	Y331N	probably damaging	Het
Cltc	G	A	11: 86,624,448 (GRCm39)	T158I	probably benign	Het
Col16a1	T	A	4: 129,960,833 (GRCm39)	D430E	unknown	Het
Cspg4	T	C	9: 56,800,027 (GRCm39)	V1597A	probably damaging	Het
Cstf2t	T	A	19: 31,062,264 (GRCm39)	L600H	probably benign	Het
Cyp27b1	T	C	10: 126,884,163 (GRCm39)	V5A	possibly damaging	Het
Depdc5	C	A	5: 33,136,746 (GRCm39)	Q1339K	probably damaging	Het
Diaph3	G	T	14: 87,203,882 (GRCm39)	P592Q	probably damaging	Het
Dync2i1	A	T	12: 116,193,191 (GRCm39)		probably null	Het
Epha8	T	C	4: 136,660,658 (GRCm39)	M687V	probably damaging	Het
Fhod1	T	A	8: 106,063,596 (GRCm39)		probably benign	Het
Gls2	C	A	10: 128,043,479 (GRCm39)	S73*	probably null	Het
Gm3604	T	A	13: 62,519,657 (GRCm39)	M33L	probably damaging	Het
Gpr39	A	G	1: 125,605,278 (GRCm39)	T69A	probably benign	Het
Hal	T	C	10: 93,339,398 (GRCm39)	F496L	probably damaging	Het
Hipk1	T	C	3: 103,668,926 (GRCm39)	E490G	probably damaging	Het
Ints7	T	G	1: 191,338,315 (GRCm39)		probably null	Het
Itpr3	A	G	17: 27,332,553 (GRCm39)	E1799G	possibly damaging	Het
Kif11	T	A	19: 37,395,451 (GRCm39)	M570K	probably benign	Het
Kif18b	G	T	11: 102,799,096 (GRCm39)	Q702K	probably damaging	Het
Kif19a	A	G	11: 114,681,019 (GRCm39)	T247A	probably damaging	Het
Lama3	A	G	18: 12,658,136 (GRCm39)	E360G	probably damaging	Het
Loxl3	G	T	6: 83,014,469 (GRCm39)	A126S	probably benign	Het
Mc5r	C	T	18: 68,472,435 (GRCm39)	R265W	probably damaging	Het
Mpl	A	G	4: 118,306,197 (GRCm39)	V340A	probably benign	Het
Mrpl13	G	T	15: 55,411,615 (GRCm39)	H56Q	probably damaging	Het
Msr1	T	C	8: 40,077,263 (GRCm39)	T116A	probably benign	Het
N4bp3	T	C	11: 51,536,930 (GRCm39)	K48E	probably damaging	Het
Naaladl1	A	G	19: 6,156,225 (GRCm39)	T104A	probably benign	Het
Or10d5	T	C	9: 39,861,630 (GRCm39)	T146A	probably benign	Het
Or8k21	A	T	2: 86,145,524 (GRCm39)	Y35*	probably null	Het
Osbp	G	T	19: 11,951,198 (GRCm39)	E248*	probably null	Het
Otx1	T	A	11: 21,946,634 (GRCm39)		probably benign	Het
Parp4	A	T	14: 56,851,274 (GRCm39)	Q759L	probably damaging	Het
Pax6	A	C	2: 105,516,228 (GRCm39)	S169R	probably benign	Het
Pigg	T	G	5: 108,480,783 (GRCm39)	I389M	probably damaging	Het
Pla2g4a	C	A	1: 149,776,940 (GRCm39)	V59F	probably damaging	Het
Plcb4	A	T	2: 135,781,903 (GRCm39)	Q241H	probably benign	Het
Plpp6	A	G	19: 28,941,720 (GRCm39)	D107G	probably damaging	Het
Ppp6r2	T	A	15: 89,159,690 (GRCm39)	L459Q	probably damaging	Het
Prss55	A	T	14: 64,313,171 (GRCm39)	W238R	probably damaging	Het
Rgl1	C	T	1: 152,412,032 (GRCm39)	E446K	probably damaging	Het
Ric3	C	T	7: 108,638,090 (GRCm39)	G221D	probably damaging	Het
Rnf167	T	C	11: 70,540,129 (GRCm39)	F83S	probably damaging	Het
Ryr1	C	T	7: 28,798,202 (GRCm39)	V947M	probably damaging	Het
Scn1a	A	G	2: 66,119,312 (GRCm39)	L1397P	probably benign	Het
Sh3bp1	T	A	15: 78,802,519 (GRCm39)	V251E	possibly damaging	Het
Slc25a10	A	T	11: 120,387,900 (GRCm39)	I198L	probably benign	Het
Smoc2	A	T	17: 14,589,233 (GRCm39)	N234I	possibly damaging	Het
Spdl1	T	A	11: 34,710,136 (GRCm39)	K382*	probably null	Het
Ssrp1	G	A	2: 84,872,660 (GRCm39)		probably null	Het
Tril	G	T	6: 53,795,012 (GRCm39)	R737S	probably damaging	Het
Triqk	T	A	4: 12,974,817 (GRCm39)		probably null	Het
Ttc19	T	C	11: 62,174,519 (GRCm39)	Y128H	probably damaging	Het
Vmn1r15	T	C	6: 57,235,677 (GRCm39)	S182P	possibly damaging	Het
Vmn1r226	A	G	17: 20,908,475 (GRCm39)	I236V	probably damaging	Het
Vmn2r120	A	C	17: 57,816,479 (GRCm39)	N625K	probably damaging	Het
Vmn2r78	T	C	7: 86,569,362 (GRCm39)	I85T	probably damaging	Het
Whamm	C	T	7: 81,241,519 (GRCm39)	R277*	probably null	Het
Wnt7a	C	T	6: 91,371,468 (GRCm39)	V165I	probably benign	Het
Zbtb40	A	T	4: 136,712,328 (GRCm39)	Y1127N	possibly damaging	Het
Zfyve1	A	T	12: 83,594,705 (GRCm39)	H762Q	probably damaging	Het

Other mutations in Neu1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01607:Neu1	APN	17	35,153,692 (GRCm39)	missense	probably benign	0.34
IGL02197:Neu1	APN	17	35,153,641 (GRCm39)	missense	possibly damaging	0.92
IGL02442:Neu1	APN	17	35,153,445 (GRCm39)	missense	probably benign
IGL02545:Neu1	APN	17	35,150,477 (GRCm39)	missense	probably benign	0.41
FR4340:Neu1	UTSW	17	35,151,534 (GRCm39)	unclassified	probably benign
R0331:Neu1	UTSW	17	35,153,146 (GRCm39)	missense	possibly damaging	0.62
R0508:Neu1	UTSW	17	35,151,760 (GRCm39)	missense	probably benign	0.07
R0646:Neu1	UTSW	17	35,153,736 (GRCm39)	missense	probably damaging	1.00
R0683:Neu1	UTSW	17	35,153,301 (GRCm39)	splice site	probably null
R1300:Neu1	UTSW	17	35,153,314 (GRCm39)	missense	possibly damaging	0.87
R1545:Neu1	UTSW	17	35,153,374 (GRCm39)	missense	probably benign	0.00
R1552:Neu1	UTSW	17	35,151,089 (GRCm39)	unclassified	probably benign
R2107:Neu1	UTSW	17	35,153,374 (GRCm39)	missense	probably benign	0.00
R2108:Neu1	UTSW	17	35,153,374 (GRCm39)	missense	probably benign	0.00
R2279:Neu1	UTSW	17	35,153,350 (GRCm39)	missense	probably damaging	1.00
R2895:Neu1	UTSW	17	35,151,758 (GRCm39)	missense	probably benign	0.08
R4747:Neu1	UTSW	17	35,153,359 (GRCm39)	missense	possibly damaging	0.77
R6010:Neu1	UTSW	17	35,151,031 (GRCm39)	missense	probably damaging	1.00
R6122:Neu1	UTSW	17	35,153,730 (GRCm39)	missense	probably benign	0.00
R8490:Neu1	UTSW	17	35,150,982 (GRCm39)	missense	probably benign	0.00
R9257:Neu1	UTSW	17	35,150,396 (GRCm39)	missense	probably benign	0.00
R9591:Neu1	UTSW	17	35,150,474 (GRCm39)	missense	probably benign	0.28
RF034:Neu1	UTSW	17	35,151,534 (GRCm39)	unclassified	probably benign
RF045:Neu1	UTSW	17	35,151,534 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CTCTACAGCCTTCATCGTAGACG -3'
(R):5'- TGTTGACAGTCTCCATGTGAG -3'

Sequencing Primer
(F):5'- TAGACGATGGGGAGGCCTC -3'
(R):5'- CTCCATGTGAGACGTCAATGG -3'

Posted On

2014-10-30