Mutagenetix > Incidental Mutation

Incidental Mutation 'R9220:Slirp'

699422

Institutional Source

Beutler Lab

Gene Symbol

Slirp

Ensembl Gene

ENSMUSG00000021040

Gene Name

SRA stem-loop interacting RNA binding protein

Synonyms

1810035L17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R9220 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87490666-87496694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87494376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 47 (R47K)

Ref Sequence

ENSEMBL: ENSMUSP00000125341 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021428] [ENSMUST00000077462] [ENSMUST00000159079] [ENSMUST00000160113] [ENSMUST00000160488] [ENSMUST00000161023] [ENSMUST00000161712] [ENSMUST00000162247] [ENSMUST00000162961] [ENSMUST00000162986] [ENSMUST00000185301]

AlphaFold

Q9D8T7

Predicted Effect

probably benign
Transcript: ENSMUST00000021428

SMART Domains

Protein: ENSMUSP00000021428
Gene: ENSMUSG00000021039

Domain	Start	End	E-Value	Type
Pfam:SKIP_SNW	175	335	2e-78	PFAM
low complexity region	524	536	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000077462

SMART Domains

Protein: ENSMUSP00000076673
Gene: ENSMUSG00000021040

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

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: R47K

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

SMART Domains

Protein: ENSMUSP00000124174
Gene: ENSMUSG00000021040
AA Change: R47K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000160880
AA Change: R41K

PolyPhen 2 Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000125727
Gene: ENSMUSG00000021040
AA Change: R41K

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: R47K

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

SMART Domains

Protein: ENSMUSP00000125341
Gene: ENSMUSG00000021040
AA Change: R47K

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

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

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: ENSMUST00000185301

SMART Domains

Protein: ENSMUSP00000140233
Gene: ENSMUSG00000079036

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Afg3l2	T	G	18: 67,562,266 (GRCm39)	I270L	probably benign	Het
Akap6	A	T	12: 53,187,232 (GRCm39)	I1549F	possibly damaging	Het
Ank2	T	C	3: 126,737,086 (GRCm39)	T2933A	unknown	Het
Atp1a3	C	A	7: 24,696,625 (GRCm39)	E309*	probably null	Het
B4galt2	T	C	4: 117,734,399 (GRCm39)	Y250C	probably damaging	Het
Bcl2l13	C	A	6: 120,847,735 (GRCm39)	T129K	possibly damaging	Het
Bltp3b	A	T	10: 89,626,457 (GRCm39)	T384S	probably benign	Het
Clp1	A	T	2: 84,554,076 (GRCm39)	H364Q	probably damaging	Het
Ddx27	T	C	2: 166,871,433 (GRCm39)	V510A	probably benign	Het
Dicer1	A	G	12: 104,679,415 (GRCm39)	C521R	probably damaging	Het
Dnah10	A	T	5: 124,871,437 (GRCm39)	I2486F	probably benign	Het
Eml1	C	A	12: 108,480,702 (GRCm39)	C389*	probably null	Het
Fabp6	C	T	11: 43,489,572 (GRCm39)	G23D	probably benign	Het
Fam3b	A	T	16: 97,302,111 (GRCm39)	S38T	probably benign	Het
Fsd1l	A	T	4: 53,679,799 (GRCm39)	K166*	probably null	Het
Galc	A	G	12: 98,220,523 (GRCm39)	S115P	probably damaging	Het
Gpn1	G	A	5: 31,664,884 (GRCm39)	A303T	probably benign	Het
Grid2	A	T	6: 63,885,888 (GRCm39)	S95C	probably damaging	Het
Helz	T	A	11: 107,560,873 (GRCm39)	S1312T	probably benign	Het
Matn2	T	C	15: 34,410,325 (GRCm39)	F506L	possibly damaging	Het
Mcemp1	A	G	8: 3,717,512 (GRCm39)	S148G	probably benign	Het
Minar1	T	A	9: 89,484,398 (GRCm39)	D333V	probably damaging	Het
Ndrg1	A	G	15: 66,805,711 (GRCm39)		probably null	Het
Nlrp4a	A	T	7: 26,149,523 (GRCm39)	N377Y	probably damaging	Het
Nox4	C	T	7: 86,970,774 (GRCm39)	T217I	probably benign	Het
Or7g21	T	C	9: 19,033,193 (GRCm39)	F311S	possibly damaging	Het
Or8b52	A	T	9: 38,576,803 (GRCm39)	Y112*	probably null	Het
Phf8-ps	T	C	17: 33,286,494 (GRCm39)	I103V	probably benign	Het
Plekhd1	T	A	12: 80,768,726 (GRCm39)	F403Y	possibly damaging	Het
Plekhg1	T	C	10: 3,913,805 (GRCm39)	S1231P		Het
Plekhg3	T	A	12: 76,618,839 (GRCm39)	M497K	probably benign	Het
Rpap1	T	C	2: 119,604,669 (GRCm39)	H413R	probably damaging	Het
Rragd	A	G	4: 32,995,924 (GRCm39)	T90A	probably damaging	Het
Septin9	T	C	11: 117,242,396 (GRCm39)	M286T	probably benign	Het
Shpk	GACCTTAGCCAGAAGGAGCCTTAGTTCATCAA	GA	11: 73,113,996 (GRCm39)		probably null	Het
Slc22a2	T	A	17: 12,838,757 (GRCm39)	D528E	probably benign	Het
Sncg	T	C	14: 34,096,474 (GRCm39)	T22A	possibly damaging	Het
Tnfrsf21	A	G	17: 43,398,801 (GRCm39)	S636G	probably damaging	Het
Unc80	T	G	1: 66,546,534 (GRCm39)	S535R	probably damaging	Het
Vmn1r149	A	T	7: 22,137,378 (GRCm39)	S93T	probably benign	Het
Vps13d	A	G	4: 144,783,058 (GRCm39)	Y3957H		Het
Wdr35	T	A	12: 9,036,000 (GRCm39)	V257E	possibly damaging	Het
Wscd1	A	G	11: 71,662,750 (GRCm39)	T264A	probably benign	Het
Zfp266	G	A	9: 20,413,337 (GRCm39)	Q108*	probably null	Het
Zfp62	T	A	11: 49,106,075 (GRCm39)	S55R	probably benign	Het

Other mutations in Slirp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01675:Slirp	APN	12	87,490,787 (GRCm39)	missense	probably damaging	0.98
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

Predicted Primers

PCR Primer
(F):5'- AGCATCATTCACTCATGTAGCTAG -3'
(R):5'- CACCACCATCACTGGATAGG -3'

Sequencing Primer
(F):5'- CATGTAGCTAGTTTTAGTCTTCAGAC -3'
(R):5'- TTAATTAGAATGCATAAACAACTGCG -3'

Posted On

2022-02-07