Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02949:Srr'

364882

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Srr

Ensembl Gene

ENSMUSG00000001323

Gene Name

serine racemase

Synonyms

Rgsc34, M100034

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.263) question?

Stock #

IGL02949

Quality Score

Status

Chromosome

Chromosomal Location

74797185-74816774 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 74799563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 304 (E304A)

Ref Sequence

ENSEMBL: ENSMUSP00000113372 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045807] [ENSMUST00000065211] [ENSMUST00000108447] [ENSMUST00000108448] [ENSMUST00000121738] [ENSMUST00000128556] [ENSMUST00000153316] [ENSMUST00000155702] [ENSMUST00000138612] [ENSMUST00000128230] [ENSMUST00000123855]

AlphaFold

Q9QZX7

Predicted Effect

probably benign
Transcript: ENSMUST00000045807

SMART Domains

Protein: ENSMUSP00000039027
Gene: ENSMUSG00000038335

Domain	Start	End	E-Value	Type
low complexity region	16	25	N/A	INTRINSIC
AARP2CN	228	309	1.14e-28	SMART
low complexity region	373	383	N/A	INTRINSIC
low complexity region	407	421	N/A	INTRINSIC
low complexity region	429	452	N/A	INTRINSIC
coiled coil region	453	478	N/A	INTRINSIC
DUF663	486	772	2.6e-179	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000065211
AA Change: E304A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000067552
Gene: ENSMUSG00000001323
AA Change: E304A

Domain	Start	End	E-Value	Type
Pfam:PALP	19	314	3.3e-75	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104305

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104449

Predicted Effect

probably benign
Transcript: ENSMUST00000108447
AA Change: E279A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000104086
Gene: ENSMUSG00000001323
AA Change: E279A

Domain	Start	End	E-Value	Type
Pfam:PALP	19	179	1.8e-41	PFAM
Pfam:PALP	173	289	4.2e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108448
AA Change: E304A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000104087
Gene: ENSMUSG00000001323
AA Change: E304A

Domain	Start	End	E-Value	Type
Pfam:PALP	19	314	2.1e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121738
AA Change: E304A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000113372
Gene: ENSMUSG00000001323
AA Change: E304A

Domain	Start	End	E-Value	Type
Pfam:PALP	19	314	3.3e-75	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130910

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144019

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127499

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135587

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147817

Predicted Effect

probably benign
Transcript: ENSMUST00000128556

SMART Domains

Protein: ENSMUSP00000120012
Gene: ENSMUSG00000001323

Domain	Start	End	E-Value	Type
Pfam:PALP	19	182	2.6e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153316

Predicted Effect

probably benign
Transcript: ENSMUST00000155702

SMART Domains

Protein: ENSMUSP00000119868
Gene: ENSMUSG00000038335

Domain	Start	End	E-Value	Type
low complexity region	16	25	N/A	INTRINSIC
low complexity region	39	58	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138612

SMART Domains

Protein: ENSMUSP00000119256
Gene: ENSMUSG00000001323

Domain	Start	End	E-Value	Type
Pfam:PALP	19	112	4.1e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128230

SMART Domains

Protein: ENSMUSP00000121384
Gene: ENSMUSG00000038335

Domain	Start	End	E-Value	Type
low complexity region	16	25	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123855

SMART Domains

Protein: ENSMUSP00000118485
Gene: ENSMUSG00000001323

Domain	Start	End	E-Value	Type
Pfam:PALP	19	166	1.5e-39	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit decreased D-serine levels in the cerebral cortex and hippocampus, and neuronal damage associated with NMDA excitotoxicity and beta-amyloid peptide 1-42 exposure is decreased. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	G	A	4: 144,344,490 (GRCm39)	V89I	probably damaging	Het
Abhd5	T	C	9: 122,206,980 (GRCm39)	F89L	possibly damaging	Het
Akr1c13	T	A	13: 4,248,593 (GRCm39)	V266E	probably damaging	Het
B4galt2	C	T	4: 117,738,602 (GRCm39)	A72T	probably benign	Het
Ccdc141	T	C	2: 76,857,938 (GRCm39)	Y1081C	probably damaging	Het
Coq8b	T	C	7: 26,956,038 (GRCm39)	V405A	possibly damaging	Het
Ddah2	A	G	17: 35,280,776 (GRCm39)	K251E	probably damaging	Het
Dnah5	T	C	15: 28,272,331 (GRCm39)	V1045A	probably benign	Het
Dpy19l1	A	T	9: 24,332,476 (GRCm39)	M662K	probably benign	Het
Dpys	A	G	15: 39,690,279 (GRCm39)	V358A	probably damaging	Het
H2-D1	A	G	17: 35,483,064 (GRCm39)	N198S	probably benign	Het
Hnrnpa1	T	C	15: 103,150,538 (GRCm39)	V163A	probably damaging	Het
Hr	C	T	14: 70,797,225 (GRCm39)	R543C	possibly damaging	Het
Lct	C	T	1: 128,240,869 (GRCm39)	V245M	probably benign	Het
Lpl	G	A	8: 69,345,400 (GRCm39)	V135M	probably damaging	Het
Mblac1	T	A	5: 138,193,119 (GRCm39)	C154S	probably benign	Het
Mmp9	T	C	2: 164,793,039 (GRCm39)	F396S	probably damaging	Het
Mroh1	A	T	15: 76,293,168 (GRCm39)	H314L	probably damaging	Het
Msantd4	T	A	9: 4,385,196 (GRCm39)	L307Q	probably damaging	Het
Nol8	A	G	13: 49,815,878 (GRCm39)	D662G	probably benign	Het
Nynrin	G	A	14: 56,109,837 (GRCm39)	S1648N	probably damaging	Het
Or52a20	A	G	7: 103,366,427 (GRCm39)	I209V	probably benign	Het
Plcb2	C	T	2: 118,549,590 (GRCm39)		probably null	Het
Scyl2	T	A	10: 89,496,163 (GRCm39)	N229I	possibly damaging	Het
Spryd3	C	T	15: 102,026,544 (GRCm39)	E376K	probably benign	Het
Srsf1	A	G	11: 87,940,352 (GRCm39)		probably benign	Het
Txnrd2	T	G	16: 18,296,456 (GRCm39)	S473A	probably benign	Het
Wdr18	T	A	10: 79,800,889 (GRCm39)	C151S	probably benign	Het
Zfp282	C	T	6: 47,874,848 (GRCm39)	T351I	probably damaging	Het

Other mutations in Srr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03268:Srr	APN	11	74,803,943 (GRCm39)	missense	probably benign	0.06
PIT4382001:Srr	UTSW	11	74,801,134 (GRCm39)	missense	probably benign	0.42
R0718:Srr	UTSW	11	74,801,891 (GRCm39)	missense	possibly damaging	0.74
R1588:Srr	UTSW	11	74,799,629 (GRCm39)	missense	possibly damaging	0.93
R1960:Srr	UTSW	11	74,799,542 (GRCm39)	missense	probably damaging	1.00
R1986:Srr	UTSW	11	74,799,545 (GRCm39)	missense	probably damaging	1.00
R4043:Srr	UTSW	11	74,799,947 (GRCm39)	missense	probably benign	0.08
R4112:Srr	UTSW	11	74,803,898 (GRCm39)	missense	probably benign
R4877:Srr	UTSW	11	74,798,606 (GRCm39)	unclassified	probably benign
R5856:Srr	UTSW	11	74,803,838 (GRCm39)	missense	possibly damaging	0.92
R5959:Srr	UTSW	11	74,801,891 (GRCm39)	missense	possibly damaging	0.74
R6362:Srr	UTSW	11	74,801,028 (GRCm39)	missense	probably damaging	1.00
R7163:Srr	UTSW	11	74,803,828 (GRCm39)	missense	probably damaging	0.96
R7706:Srr	UTSW	11	74,803,961 (GRCm39)	critical splice acceptor site	probably null
R7817:Srr	UTSW	11	74,799,524 (GRCm39)	missense	possibly damaging	0.94

Posted On

2015-12-18