Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01675:Slirp'

103618

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slirp

Ensembl Gene

ENSMUSG00000021040

Gene Name

SRA stem-loop interacting RNA binding protein

Synonyms

1810035L17Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

IGL01675

Quality Score

Status

Chromosome

Chromosomal Location

87490666-87496694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87490787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 24 (A24T)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077462] [ENSMUST00000159079] [ENSMUST00000160113] [ENSMUST00000160488] [ENSMUST00000161023] [ENSMUST00000185301] [ENSMUST00000162961] [ENSMUST00000162986] [ENSMUST00000161712] [ENSMUST00000162247]

AlphaFold

Q9D8T7

Predicted Effect

probably benign
Transcript: ENSMUST00000077462
AA Change: A28T

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000076673
Gene: ENSMUSG00000021040
AA Change: A28T

Domain	Start	End	E-Value	Type
RRM	18	82	1.08e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000091090

SMART Domains

Protein: ENSMUSP00000088619
Gene: ENSMUSG00000021041

Domain	Start	End	E-Value	Type
low complexity region	54	66	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159079

SMART Domains

Protein: ENSMUSP00000124445
Gene: ENSMUSG00000079036

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160113

SMART Domains

Protein: ENSMUSP00000124691
Gene: ENSMUSG00000079036

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160488
AA Change: A30T

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000124174
Gene: ENSMUSG00000021040
AA Change: A30T

Domain	Start	End	E-Value	Type
RRM	20	92	2.41e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160850

Predicted Effect

probably damaging
Transcript: ENSMUST00000160880
AA Change: A24T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125727
Gene: ENSMUSG00000021040
AA Change: A24T

Domain	Start	End	E-Value	Type
Blast:RRM	15	47	6e-17	BLAST
SCOP:d1u2fa_	17	59	2e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161023
AA Change: A30T

PolyPhen 2 Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000125341
Gene: ENSMUSG00000021040
AA Change: A30T

Domain	Start	End	E-Value	Type
RRM	20	92	1.73e-18	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160919

Predicted Effect

probably benign
Transcript: ENSMUST00000185301

SMART Domains

Protein: ENSMUSP00000140233
Gene: ENSMUSG00000079036

Domain	Start	End	E-Value	Type
low complexity region	54	66	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162961

SMART Domains

Protein: ENSMUSP00000124565
Gene: ENSMUSG00000079036

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC
Pfam:2OG-FeII_Oxy_2	98	344	6.7e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162986

SMART Domains

Protein: ENSMUSP00000125372
Gene: ENSMUSG00000079036

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161712

SMART Domains

Protein: ENSMUSP00000124933
Gene: ENSMUSG00000079036

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162247

SMART Domains

Protein: ENSMUSP00000124360
Gene: ENSMUSG00000079036

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Steroid receptor RNA activator (SRA, or SRA1; MIM 603819) is a complex RNA molecule containing multiple stable stem-loop structures that functions in coactivation of nuclear receptors. SLIRP interacts with stem-loop structure-7 of SRA (STR7) and modulates nuclear receptor transactivation (Hatchell et al., 2006 [PubMed 16762838]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous inactivation of this gene results in partial preweaning lethality and reduced male fertility characterized by asthenozoospermia and abnormal sperm annulus and sperm mitochondrial sheath morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cadps2	G	T	6: 23,382,904 (GRCm39)	L790I	probably damaging	Het
Hecw1	C	T	13: 14,409,007 (GRCm39)	R1100Q	probably damaging	Het
Itga7	T	C	10: 128,782,724 (GRCm39)	L691P	probably damaging	Het
Kcnh1	A	G	1: 192,019,901 (GRCm39)	D382G	probably benign	Het
Kcnh5	A	T	12: 75,161,274 (GRCm39)	C211*	probably null	Het
Lama2	T	C	10: 27,064,050 (GRCm39)	T1276A	possibly damaging	Het
Magea10	A	G	X: 71,426,721 (GRCm39)	V91A	probably benign	Het
Mtor	A	G	4: 148,569,111 (GRCm39)	T1143A	probably benign	Het
Pira13	A	C	7: 3,825,607 (GRCm39)		probably benign	Het
Shroom3	A	G	5: 93,089,539 (GRCm39)	Q763R	probably damaging	Het
Tlr6	A	T	5: 65,111,842 (GRCm39)	I355N	probably damaging	Het
Tyw5	G	A	1: 57,427,791 (GRCm39)	A271V	possibly damaging	Het
Vav3	G	A	3: 109,571,729 (GRCm39)	G217D	probably benign	Het
Vmn2r65	A	G	7: 84,596,587 (GRCm39)	I156T	probably benign	Het
Vmn2r79	A	G	7: 86,645,856 (GRCm39)	N62D	probably benign	Het

Other mutations in Slirp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5071:Slirp	UTSW	12	87,490,784 (GRCm39)	missense	probably damaging	1.00
R5074:Slirp	UTSW	12	87,490,784 (GRCm39)	missense	probably damaging	1.00
R5373:Slirp	UTSW	12	87,496,192 (GRCm39)	missense	possibly damaging	0.83
R5374:Slirp	UTSW	12	87,496,192 (GRCm39)	missense	possibly damaging	0.83
R5982:Slirp	UTSW	12	87,490,784 (GRCm39)	missense	probably damaging	1.00
R8024:Slirp	UTSW	12	87,494,370 (GRCm39)	missense	probably damaging	0.98
R8131:Slirp	UTSW	12	87,494,428 (GRCm39)	splice site	probably null
R9220:Slirp	UTSW	12	87,494,376 (GRCm39)	missense	probably benign	0.00

Posted On

2014-01-21