Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01737:Bdnf'

105742

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Bdnf

Ensembl Gene

ENSMUSG00000048482

Gene Name

brain derived neurotrophic factor

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.423) question?

Stock #

IGL01737

Quality Score

Status

Chromosome

Chromosomal Location

109505045-109557352 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109554100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 158 (Y158C)

Ref Sequence

ENSEMBL: ENSMUSP00000106671 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053317] [ENSMUST00000111042] [ENSMUST00000111043] [ENSMUST00000111044] [ENSMUST00000111045] [ENSMUST00000111046] [ENSMUST00000111047] [ENSMUST00000111050] [ENSMUST00000176893] [ENSMUST00000111051] [ENSMUST00000111049]

AlphaFold

P21237

Predicted Effect

probably damaging
Transcript: ENSMUST00000053317
AA Change: Y126C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057989
Gene: ENSMUSG00000048482
AA Change: Y126C

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
low complexity region	111	122	N/A	INTRINSIC
NGF	143	250	7.57e-88	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111042
AA Change: Y158C

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

SMART Domains

Protein: ENSMUSP00000106671
Gene: ENSMUSG00000048482
AA Change: Y158C

Domain	Start	End	E-Value	Type
low complexity region	143	154	N/A	INTRINSIC
NGF	175	282	7.57e-88	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111043
AA Change: Y118C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106672
Gene: ENSMUSG00000048482
AA Change: Y118C

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	103	114	N/A	INTRINSIC
NGF	135	242	7.57e-88	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111044
AA Change: Y118C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106673
Gene: ENSMUSG00000048482
AA Change: Y118C

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	103	114	N/A	INTRINSIC
NGF	135	242	7.57e-88	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111045
AA Change: Y118C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106674
Gene: ENSMUSG00000048482
AA Change: Y118C

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	103	114	N/A	INTRINSIC
NGF	135	242	7.57e-88	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111046
AA Change: Y118C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106675
Gene: ENSMUSG00000048482
AA Change: Y118C

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	103	114	N/A	INTRINSIC
NGF	135	242	7.57e-88	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111047
AA Change: Y118C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106676
Gene: ENSMUSG00000048482
AA Change: Y118C

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	103	114	N/A	INTRINSIC
NGF	135	242	7.57e-88	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111050
AA Change: Y118C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106679
Gene: ENSMUSG00000048482
AA Change: Y118C

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	103	114	N/A	INTRINSIC
NGF	135	242	7.57e-88	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000176893
AA Change: Y118C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135762
Gene: ENSMUSG00000048482
AA Change: Y118C

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	103	114	N/A	INTRINSIC
NGF	135	242	7.57e-88	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111051
AA Change: Y118C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106680
Gene: ENSMUSG00000048482
AA Change: Y118C

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	103	114	N/A	INTRINSIC
NGF	135	242	7.57e-88	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000111049
AA Change: Y118C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106678
Gene: ENSMUSG00000048482
AA Change: Y118C

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	103	114	N/A	INTRINSIC
NGF	135	242	7.57e-88	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the nerve growth factor family. It is involved in the growth, differentiation and survival of specific types of developing neurons both in the central nervous system (CNS) and the peripheral nervous system. It is also involved in regulating synaptic plasticity in the CNS. Expression of a similar gene in human is reduced in both Alzheimer's and Huntington disease patients. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygotes for targeted null alleles exhibit sensory neuron losses affecting coordination, balance, hearing, taste, and breathing, cerebellar abnormalities, increased sympathetic neuron number, and postnatal lethality. Carriers show mild defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	A	G	13: 104,526,643 (GRCm39)	I524V	probably damaging	Het
Atxn2	T	A	5: 121,935,407 (GRCm39)	M336K	probably damaging	Het
Bcr	T	A	10: 74,990,783 (GRCm39)	F763Y	probably damaging	Het
Ccdc92	T	C	5: 124,912,920 (GRCm39)	E203G	probably damaging	Het
Cyp2j12	T	C	4: 96,010,895 (GRCm39)	*72W	probably null	Het
Def6	G	T	17: 28,442,701 (GRCm39)	R288L	possibly damaging	Het
Foxn1	T	G	11: 78,251,732 (GRCm39)	S500R	possibly damaging	Het
Gss	T	C	2: 155,409,726 (GRCm39)	K77E	probably damaging	Het
Habp2	G	A	19: 56,304,739 (GRCm39)	G410D	probably benign	Het
Krt36	A	T	11: 99,994,946 (GRCm39)	C209S	possibly damaging	Het
Mmrn1	T	C	6: 60,954,145 (GRCm39)	F809L	probably benign	Het
Mptx2	C	A	1: 173,102,408 (GRCm39)	V94F	probably damaging	Het
Myh4	G	T	11: 67,134,245 (GRCm39)		probably benign	Het
N4bp2l1	G	T	5: 150,517,781 (GRCm39)	H41N	possibly damaging	Het
Ndnf	T	A	6: 65,680,539 (GRCm39)	S273T	probably benign	Het
Nt5c1b	A	T	12: 10,440,108 (GRCm39)	Y624F	possibly damaging	Het
Prss8	C	T	7: 127,525,752 (GRCm39)	V256M	probably damaging	Het
Ramp1	T	C	1: 91,150,821 (GRCm39)		probably benign	Het
Sf3b2	A	G	19: 5,329,866 (GRCm39)		probably benign	Het
Tfdp2	G	A	9: 96,182,465 (GRCm39)	R235Q	possibly damaging	Het
Tle1	C	T	4: 72,116,058 (GRCm39)		probably benign	Het
Tmprss11e	A	G	5: 86,867,593 (GRCm39)	V159A	probably damaging	Het
Trim12c	A	G	7: 103,997,269 (GRCm39)	C96R	probably damaging	Het
Usp24	A	G	4: 106,244,931 (GRCm39)	D1256G	probably benign	Het

Other mutations in Bdnf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00546:Bdnf	APN	2	109,553,892 (GRCm39)	missense	probably benign	0.02
IGL01285:Bdnf	APN	2	109,553,931 (GRCm39)	missense	probably benign	0.02
IGL01595:Bdnf	APN	2	109,554,273 (GRCm39)	nonsense	probably null
IGL02450:Bdnf	APN	2	109,553,949 (GRCm39)	missense	possibly damaging	0.75
IGL02793:Bdnf	APN	2	109,554,196 (GRCm39)	missense	probably damaging	1.00
IGL02875:Bdnf	APN	2	109,554,196 (GRCm39)	missense	probably damaging	1.00
R0505:Bdnf	UTSW	2	109,505,688 (GRCm39)	splice site	probably null
R0626:Bdnf	UTSW	2	109,553,883 (GRCm39)	missense	probably benign	0.01
R0792:Bdnf	UTSW	2	109,554,463 (GRCm39)	missense	probably damaging	1.00
R1568:Bdnf	UTSW	2	109,554,139 (GRCm39)	missense	probably damaging	1.00
R2066:Bdnf	UTSW	2	109,554,247 (GRCm39)	missense	probably damaging	1.00
R4704:Bdnf	UTSW	2	109,554,037 (GRCm39)	missense	possibly damaging	0.89
R5000:Bdnf	UTSW	2	109,553,993 (GRCm39)	missense	probably benign	0.01
R5259:Bdnf	UTSW	2	109,554,327 (GRCm39)	missense	probably benign	0.37
R5301:Bdnf	UTSW	2	109,553,884 (GRCm39)	missense	probably benign
R6344:Bdnf	UTSW	2	109,554,022 (GRCm39)	missense	probably benign	0.01
R7392:Bdnf	UTSW	2	109,554,275 (GRCm39)	missense	probably benign	0.01
R9481:Bdnf	UTSW	2	109,553,935 (GRCm39)	missense	possibly damaging	0.69
R9558:Bdnf	UTSW	2	109,539,999 (GRCm39)	missense
R9702:Bdnf	UTSW	2	109,554,117 (GRCm39)	missense	possibly damaging	0.85
X0028:Bdnf	UTSW	2	109,554,228 (GRCm39)	missense	possibly damaging	0.77
X0058:Bdnf	UTSW	2	109,553,982 (GRCm39)	missense	probably benign	0.00

Posted On

2014-01-21