Mutagenetix > Incidental Mutation

Incidental Mutation 'R6316:Manf'

509991

Institutional Source

Beutler Lab

Gene Symbol

Manf

Ensembl Gene

ENSMUSG00000032575

Gene Name

mesencephalic astrocyte-derived neurotrophic factor

Synonyms

Armet, 3230402M22Rik

MMRRC Submission

044416-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.629) question?

Stock #

R6316 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106765952-106769137 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106766385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 132 (L132P)

Ref Sequence

ENSEMBL: ENSMUSP00000124562 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044532] [ENSMUST00000055843] [ENSMUST00000069036] [ENSMUST00000159283] [ENSMUST00000171095]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044532

SMART Domains

Protein: ENSMUSP00000047652
Gene: ENSMUSG00000039716

Domain	Start	End	E-Value	Type
SH3	9	66	3.85e-9	SMART
Pfam:DOCK_N	69	412	1.4e-120	PFAM
Pfam:DOCK-C2	417	608	7.7e-56	PFAM
low complexity region	854	867	N/A	INTRINSIC
low complexity region	892	916	N/A	INTRINSIC
Pfam:DHR-2	1121	1628	9e-133	PFAM
low complexity region	1679	1690	N/A	INTRINSIC
low complexity region	1693	1704	N/A	INTRINSIC
low complexity region	1730	1754	N/A	INTRINSIC
low complexity region	1880	1902	N/A	INTRINSIC
low complexity region	1963	1977	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000055843

SMART Domains

Protein: ENSMUSP00000059330
Gene: ENSMUSG00000074102

Domain	Start	End	E-Value	Type
low complexity region	5	41	N/A	INTRINSIC
low complexity region	53	75	N/A	INTRINSIC
low complexity region	78	133	N/A	INTRINSIC
RRM	137	212	2.47e-2	SMART
low complexity region	216	251	N/A	INTRINSIC
low complexity region	266	299	N/A	INTRINSIC
RRM	334	406	2.03e-15	SMART
RRM	415	484	3.57e-11	SMART
low complexity region	653	675	N/A	INTRINSIC
Pfam:SPOC	719	854	1.7e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000069036
AA Change: L118P

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

SMART Domains

Protein: ENSMUSP00000066534
Gene: ENSMUSG00000032575
AA Change: L118P

Domain	Start	End	E-Value	Type
Pfam:Armet	13	165	3.2e-77	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000159283
AA Change: L132P

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

SMART Domains

Protein: ENSMUSP00000124562
Gene: ENSMUSG00000032575
AA Change: L132P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Armet	26	171	9.1e-74	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159620

SMART Domains

Protein: ENSMUSP00000123907
Gene: ENSMUSG00000032575

Domain	Start	End	E-Value	Type
Pfam:Armet	18	120	1.7e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160503

SMART Domains

Protein: ENSMUSP00000124453
Gene: ENSMUSG00000032575

Domain	Start	End	E-Value	Type
Pfam:Armet	17	118	1.6e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160978

SMART Domains

Protein: ENSMUSP00000124791
Gene: ENSMUSG00000032575

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Armet	26	124	1.6e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193135

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161822

Predicted Effect

probably benign
Transcript: ENSMUST00000161272

SMART Domains

Protein: ENSMUSP00000125424
Gene: ENSMUSG00000032575

Domain	Start	End	E-Value	Type
Pfam:Armet	1	51	2.5e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000185707

Predicted Effect

probably benign
Transcript: ENSMUST00000171095

SMART Domains

Protein: ENSMUSP00000127059
Gene: ENSMUSG00000039716

Domain	Start	End	E-Value	Type
Pfam:Ded_cyto	1	172	8.9e-52	PFAM
low complexity region	223	234	N/A	INTRINSIC
low complexity region	237	248	N/A	INTRINSIC
low complexity region	260	275	N/A	INTRINSIC
low complexity region	402	424	N/A	INTRINSIC
low complexity region	485	499	N/A	INTRINSIC

Meta Mutation Damage Score

0.2469

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 98.0%

Validation Efficiency

97% (38/39)

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 localized in the endoplasmic reticulum (ER) and golgi, and is also secreted. Reducing expression of this gene increases susceptibility to ER stress-induced death and results in cell proliferation. Activity of this protein is important in promoting the survival of dopaminergic neurons. The presence of polymorphisms in the N-terminal arginine-rich region, including a specific mutation that changes an ATG start codon to AGG, have been reported in a variety of solid tumors; however, these polymorphisms were later shown to exist in normal tissues and are thus no longer thought to be tumor-related. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous KO affects de novo protein synthesis in differentiating neuronal stem cells and pancreatic beta cells, disrupting the migration and neurite growth of developing cortical neurons and causing severe growth retardation and hyperglycemia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,353,118 (GRCm39)	T775A	probably benign	Het
Adam6a	A	T	12: 113,509,196 (GRCm39)	N523I	probably benign	Het
Adgrv1	T	C	13: 81,647,187 (GRCm39)	T3118A	possibly damaging	Het
Arhgef4	G	A	1: 34,762,558 (GRCm39)	A605T	unknown	Het
Asxl3	A	G	18: 22,655,839 (GRCm39)	Y1283C	probably damaging	Het
Btbd2	T	A	10: 80,480,612 (GRCm39)	I319F	probably damaging	Het
Eno4	G	A	19: 58,948,723 (GRCm39)		probably null	Het
Glis2	T	A	16: 4,431,700 (GRCm39)		probably benign	Het
Grin2b	A	T	6: 135,757,277 (GRCm39)	C395S	probably benign	Het
H1f8	T	C	6: 115,925,876 (GRCm39)		probably null	Het
Kansl1l	T	A	1: 66,774,744 (GRCm39)	Y694F	probably benign	Het
Kcnj1	A	T	9: 32,308,632 (GRCm39)	E332V	probably damaging	Het
Klhdc7a	T	C	4: 139,694,113 (GRCm39)	E278G	probably benign	Het
Krt33a	T	C	11: 99,905,027 (GRCm39)	N160D	probably damaging	Het
Ksr2	A	G	5: 117,823,567 (GRCm39)	N448S	probably damaging	Het
Lpar6	A	G	14: 73,476,774 (GRCm39)	Y245C	probably damaging	Het
Magel2	T	C	7: 62,028,467 (GRCm39)	I457T	possibly damaging	Het
Moxd2	T	C	6: 40,860,481 (GRCm39)	D321G	probably damaging	Het
Mtmr12	T	A	15: 12,236,199 (GRCm39)	C153S	probably null	Het
Muc16	T	C	9: 18,553,115 (GRCm39)	T4393A	probably benign	Het
Notch3	T	C	17: 32,356,787 (GRCm39)		probably null	Het
Or9e1	A	G	11: 58,732,768 (GRCm39)	Y276C	probably damaging	Het
Pirb	T	A	7: 3,720,822 (GRCm39)	K225N	probably damaging	Het
Plch1	C	T	3: 63,688,811 (GRCm39)	W131*	probably null	Het
Rilpl2	A	G	5: 124,615,943 (GRCm39)	V69A	probably damaging	Het
Smdt1	T	C	15: 82,232,210 (GRCm39)	V99A	probably damaging	Het
Smpd1	T	C	7: 105,204,709 (GRCm39)	V196A	probably benign	Het
Supt20	TCAGCAGCAGCAGCAGCAGCAGCA	TCAGCAGCAGCAGCAGCAGCAGCAGCA	3: 54,635,069 (GRCm39)		probably benign	Het
Tcte1	A	G	17: 45,845,786 (GRCm39)	H130R	probably benign	Het
Tead1	C	A	7: 112,491,046 (GRCm39)	Q296K	probably damaging	Het
Thoc2l	G	C	5: 104,667,595 (GRCm39)	G706R	probably damaging	Het
Tmem163	C	T	1: 127,479,102 (GRCm39)	S139N	probably benign	Het
Tor1aip2	G	T	1: 155,937,840 (GRCm39)	D192Y	probably damaging	Het
Trgv2	G	A	13: 19,520,912 (GRCm39)	Q61*	probably null	Het
Trib1	T	C	15: 59,521,264 (GRCm39)	S85P	probably benign	Het
Trrap	T	A	5: 144,750,336 (GRCm39)	N1581K	probably benign	Het
Vmn1r181	G	A	7: 23,684,183 (GRCm39)	R216Q	probably benign	Het
Xrn2	A	G	2: 146,883,930 (GRCm39)	Y563C	probably damaging	Het

Other mutations in Manf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02963:Manf	APN	9	106,768,338 (GRCm39)	missense	possibly damaging	0.94
R0627:Manf	UTSW	9	106,766,385 (GRCm39)	missense	probably damaging	1.00
R7261:Manf	UTSW	9	106,769,088 (GRCm39)	missense	probably benign
R8911:Manf	UTSW	9	106,767,461 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TTCAGGTGCAGCAGGAATTG -3'
(R):5'- GTCTTATGGTGGCTACTGACAG -3'

Sequencing Primer
(F):5'- TTGGGCAGACTACAGATCAGTCC -3'
(R):5'- GAAGACTGTCATCTCAATCTTGGGC -3'

Posted On

2018-04-02