Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02963:Manf'

365446

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Manf

Ensembl Gene

ENSMUSG00000032575

Gene Name

mesencephalic astrocyte-derived neurotrophic factor

Synonyms

Armet, 3230402M22Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.690) question?

Stock #

IGL02963

Quality Score

Status

Chromosome

Chromosomal Location

106765952-106769137 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106768338 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 49 (S49P)

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

possibly damaging
Transcript: ENSMUST00000069036
AA Change: S35P

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000066534
Gene: ENSMUSG00000032575
AA Change: S35P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159283
AA Change: S49P

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124562
Gene: ENSMUSG00000032575
AA Change: S49P

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

Predicted Effect

unknown
Transcript: ENSMUST00000159620
AA Change: S40P

SMART Domains

Protein: ENSMUSP00000123907
Gene: ENSMUSG00000032575
AA Change: S40P

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

Predicted Effect

unknown
Transcript: ENSMUST00000160503
AA Change: S39P

SMART Domains

Protein: ENSMUSP00000124453
Gene: ENSMUSG00000032575
AA Change: S39P

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: ENSMUST00000161822

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193135

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

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

Coding Region Coverage

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 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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,603,503 (GRCm39)	L565Q	probably damaging	Het
Ap1b1	G	T	11: 4,983,738 (GRCm39)	A664S	possibly damaging	Het
Arhgap44	A	T	11: 64,922,489 (GRCm39)	I348N	probably damaging	Het
Bahcc1	T	C	11: 120,165,758 (GRCm39)	S1005P	possibly damaging	Het
Ccn1	A	G	3: 145,353,630 (GRCm39)	Y311H	probably damaging	Het
Cdh20	T	A	1: 104,861,823 (GRCm39)	M1K	probably null	Het
Cfhr4	G	A	1: 139,659,334 (GRCm39)	Q732*	probably null	Het
Cpsf3	T	C	12: 21,352,423 (GRCm39)	S387P	probably damaging	Het
Cyp2j6	T	C	4: 96,406,421 (GRCm39)	E450G	probably damaging	Het
Dusp13b	T	C	14: 21,783,875 (GRCm39)	T147A	possibly damaging	Het
Eif3c	T	C	7: 126,155,992 (GRCm39)	T493A	probably benign	Het
Ell2	T	C	13: 75,917,762 (GRCm39)	V564A	possibly damaging	Het
Gtf2ird1	T	G	5: 134,418,541 (GRCm39)	E478D	probably benign	Het
Gys2	A	T	6: 142,395,154 (GRCm39)		probably null	Het
H2-T3	T	C	17: 36,500,526 (GRCm39)	T104A	probably damaging	Het
Herc1	T	C	9: 66,296,105 (GRCm39)	S567P	probably damaging	Het
Kcnq3	A	T	15: 66,157,675 (GRCm39)		probably benign	Het
Kdm7a	T	C	6: 39,120,164 (GRCm39)	H935R	probably damaging	Het
Lcat	A	T	8: 106,666,588 (GRCm39)	F311L	probably damaging	Het
Med25	T	C	7: 44,541,680 (GRCm39)	K37E	probably damaging	Het
Ms4a4b	T	A	19: 11,432,062 (GRCm39)	I61K	probably damaging	Het
Muc5b	T	C	7: 141,418,001 (GRCm39)	I3649T	probably damaging	Het
Myo18a	T	G	11: 77,732,844 (GRCm39)		probably benign	Het
Ncoa4	T	C	14: 31,898,466 (GRCm39)	C429R	probably damaging	Het
Or14j2	A	G	17: 37,885,745 (GRCm39)	S190P	probably benign	Het
Pigk	G	T	3: 152,472,098 (GRCm39)	E337*	probably null	Het
Pigz	A	T	16: 31,763,353 (GRCm39)	Y137F	probably damaging	Het
Ppp1r12b	A	G	1: 134,814,286 (GRCm39)	L339P	probably damaging	Het
Rasa2	C	A	9: 96,452,838 (GRCm39)	L349F	probably damaging	Het
Reep4	A	G	14: 70,785,410 (GRCm39)	S186G	possibly damaging	Het
Rfx7	A	G	9: 72,524,898 (GRCm39)	K696R	probably benign	Het
Rnf220	A	G	4: 117,347,389 (GRCm39)	F8L	probably damaging	Het
Rprm	T	C	2: 53,975,226 (GRCm39)	T31A	probably benign	Het
Sez6	T	A	11: 77,853,775 (GRCm39)	L148Q	possibly damaging	Het
Sh2d6	C	T	6: 72,494,584 (GRCm39)	V96I	probably benign	Het
Slc16a9	G	T	10: 70,102,966 (GRCm39)	V81F	probably damaging	Het
Slc9a9	T	A	9: 94,902,767 (GRCm39)		probably null	Het
Sppl3	T	A	5: 115,199,662 (GRCm39)	L22Q	probably damaging	Het
Ssc5d	T	C	7: 4,947,326 (GRCm39)	S1227P	probably benign	Het
Tbc1d1	T	A	5: 64,421,709 (GRCm39)	V238E	probably damaging	Het
Tmco6	G	A	18: 36,871,798 (GRCm39)		probably null	Het
Tyr	A	G	7: 87,133,205 (GRCm39)	V287A	probably benign	Het
Uvrag	A	T	7: 98,555,697 (GRCm39)		probably null	Het
Vmn1r167	A	G	7: 23,204,975 (GRCm39)	S14P	possibly damaging	Het
Vmn1r171	A	G	7: 23,332,113 (GRCm39)	T113A	possibly damaging	Het
Wnk4	A	G	11: 101,167,039 (GRCm39)		probably benign	Het
Zan	T	C	5: 137,454,512 (GRCm39)	T1431A	unknown	Het

Other mutations in Manf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0627:Manf	UTSW	9	106,766,385 (GRCm39)	missense	probably damaging	1.00
R6316: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

Posted On

2015-12-18