Mutagenetix > Incidental Mutation

Incidental Mutation 'R0497:Sla'

40559

Institutional Source

Beutler Lab

Gene Symbol

Sla

Ensembl Gene

ENSMUSG00000022372

Gene Name

src-like adaptor

Synonyms

Slap-1, Slap

MMRRC Submission

038693-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0497 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

66652668-66703678 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 66664098 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 91 (I91K)

Ref Sequence

ENSEMBL: ENSMUSP00000131865 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065916] [ENSMUST00000100572] [ENSMUST00000163495] [ENSMUST00000164163] [ENSMUST00000168522] [ENSMUST00000168589] [ENSMUST00000171045]

AlphaFold

Q60898

Predicted Effect

probably benign
Transcript: ENSMUST00000065916

SMART Domains

Protein: ENSMUSP00000070239
Gene: ENSMUSG00000053469

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
TY	50	97	5.9e-16	SMART
TY	118	165	5.59e-17	SMART
Pfam:Thyroglobulin_1	174	252	4e-9	PFAM
TY	317	363	4.36e-19	SMART
low complexity region	495	504	N/A	INTRINSIC
TY	617	662	3.58e-15	SMART
TY	684	730	1.47e-16	SMART
TY	880	926	1.51e-4	SMART
TY	1029	1078	1.21e-12	SMART
TY	1106	1150	7.56e-5	SMART
TY	1167	1215	7.26e-16	SMART
low complexity region	1244	1255	N/A	INTRINSIC
Pfam:GCC2_GCC3	1464	1509	2.7e-16	PFAM
TY	1519	1568	9.81e-13	SMART
Pfam:COesterase	2181	2717	8.4e-140	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100572
AA Change: I75K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000098138
Gene: ENSMUSG00000022372
AA Change: I75K

Domain	Start	End	E-Value	Type
low complexity region	7	24	N/A	INTRINSIC
SH3	25	81	2.5e-6	SMART
SH2	82	166	4.1e-31	SMART
low complexity region	247	260	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163495

SMART Domains

Protein: ENSMUSP00000129868
Gene: ENSMUSG00000053469

Domain	Start	End	E-Value	Type
TY	14	63	1.21e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164163
AA Change: I75K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127901
Gene: ENSMUSG00000022372
AA Change: I75K

Domain	Start	End	E-Value	Type
low complexity region	7	24	N/A	INTRINSIC
SH3	25	81	2.5e-6	SMART
SH2	82	166	4.1e-31	SMART
low complexity region	247	260	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164939

Predicted Effect

probably benign
Transcript: ENSMUST00000168522
AA Change: I91K

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

SMART Domains

Protein: ENSMUSP00000131865
Gene: ENSMUSG00000022372
AA Change: I91K

Domain	Start	End	E-Value	Type
low complexity region	23	40	N/A	INTRINSIC
SH3	41	97	4.1e-4	SMART
SH2	98	182	6.67e-29	SMART
low complexity region	263	276	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168589
AA Change: I75K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130222
Gene: ENSMUSG00000022372
AA Change: I75K

Domain	Start	End	E-Value	Type
low complexity region	7	24	N/A	INTRINSIC
SH3	25	81	2.5e-6	SMART
SH2	82	166	4.1e-31	SMART
low complexity region	247	260	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172153

SMART Domains

Protein: ENSMUSP00000128410
Gene: ENSMUSG00000053469

Domain	Start	End	E-Value	Type
Pfam:COesterase	313	849	6e-140	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171045

SMART Domains

Protein: ENSMUSP00000126454
Gene: ENSMUSG00000053469

Domain	Start	End	E-Value	Type
internal_repeat_1	93	331	1.53e-6	PROSPERO
Pfam:COesterase	562	1098	2.1e-137	PFAM

Meta Mutation Damage Score

0.1558

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (68/68)

MGI Phenotype

PHENOTYPE: Homozygous inactivation in this locus affects T cell development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	C	11: 119,909,606 (GRCm39)	V110G	probably damaging	Het
Adcy6	A	C	15: 98,495,606 (GRCm39)		probably null	Het
Adm	A	G	7: 110,228,328 (GRCm39)	T170A	probably benign	Het
Afap1l2	G	T	19: 56,918,641 (GRCm39)	N171K	probably benign	Het
Aph1b	G	T	9: 66,697,900 (GRCm39)	S112*	probably null	Het
Arhgap23	A	G	11: 97,342,989 (GRCm39)	S424G	probably damaging	Het
Asah2	T	A	19: 32,032,031 (GRCm39)	N46I	probably benign	Het
Braf	G	A	6: 39,617,483 (GRCm39)		probably benign	Het
Brd2	C	T	17: 34,333,334 (GRCm39)	R47Q	probably damaging	Het
C2cd5	A	G	6: 142,957,819 (GRCm39)	V972A	probably benign	Het
Car9	T	A	4: 43,511,881 (GRCm39)	L300H	probably damaging	Het
Chmp3	T	C	6: 71,529,395 (GRCm39)	S20P	probably damaging	Het
Chp1	A	G	2: 119,402,263 (GRCm39)	N79S	possibly damaging	Het
Cnot2	A	T	10: 116,334,260 (GRCm39)	I335N	probably damaging	Het
Cntnap4	T	C	8: 113,296,783 (GRCm39)	V6A	probably benign	Het
Ctcf	T	A	8: 106,401,672 (GRCm39)		probably benign	Het
Dennd1b	A	G	1: 138,967,724 (GRCm39)		probably benign	Het
Dnmbp	A	G	19: 43,845,079 (GRCm39)		probably benign	Het
Eef2	T	C	10: 81,017,420 (GRCm39)	F782L	probably benign	Het
Eogt	T	A	6: 97,112,194 (GRCm39)	Y153F	probably benign	Het
Fam81a	G	T	9: 70,003,401 (GRCm39)	Q237K	possibly damaging	Het
Fat2	T	A	11: 55,174,228 (GRCm39)	T2162S	probably benign	Het
Fcgbpl1	T	A	7: 27,846,890 (GRCm39)	C1158S	probably damaging	Het
Gas6	T	C	8: 13,520,387 (GRCm39)	I434V	possibly damaging	Het
Gm42417	A	T	1: 36,571,248 (GRCm39)	L77Q	probably damaging	Het
Grik3	A	T	4: 125,517,303 (GRCm39)	N49Y	possibly damaging	Het
Gucy2e	A	T	11: 69,114,985 (GRCm39)	V974E	probably damaging	Het
Helz2	A	G	2: 180,871,449 (GRCm39)	V2721A	probably damaging	Het
Klhl6	GT	G	16: 19,775,716 (GRCm39)	279	probably null	Het
Krt73	A	G	15: 101,710,665 (GRCm39)	L23P	probably damaging	Het
L3mbtl3	T	C	10: 26,158,772 (GRCm39)		probably benign	Het
Lrrc15	A	T	16: 30,091,710 (GRCm39)	V543E	probably damaging	Het
Med13	G	A	11: 86,167,809 (GRCm39)		probably benign	Het
Med25	T	C	7: 44,541,524 (GRCm39)	D60G	probably damaging	Het
Mgam	T	A	6: 40,641,826 (GRCm39)	Y560N	probably damaging	Het
Mlkl	A	G	8: 112,054,505 (GRCm39)	Y211H	probably damaging	Het
Msl2	A	G	9: 100,978,493 (GRCm39)	N289S	probably benign	Het
Nwd2	G	T	5: 63,963,686 (GRCm39)	W1090L	probably damaging	Het
Omt2b	T	C	9: 78,235,513 (GRCm39)		probably benign	Het
Or4k37	A	G	2: 111,159,175 (GRCm39)	D137G	probably benign	Het
Pald1	A	G	10: 61,177,094 (GRCm39)	L652P	probably damaging	Het
Pard3b	T	A	1: 62,479,167 (GRCm39)		probably null	Het
Prdm15	G	A	16: 97,595,534 (GRCm39)	T1098I	possibly damaging	Het
Rock2	A	G	12: 17,004,954 (GRCm39)	T436A	probably benign	Het
Sema4c	A	T	1: 36,588,689 (GRCm39)	D812E	probably benign	Het
Slc22a16	T	G	10: 40,460,963 (GRCm39)	M255R	probably damaging	Het
Slc49a4	A	T	16: 35,555,974 (GRCm39)	V162D	probably benign	Het
Smg8	C	T	11: 86,976,910 (GRCm39)	D224N	possibly damaging	Het
Spdef	A	T	17: 27,937,032 (GRCm39)	D190E	probably benign	Het
Taok1	A	G	11: 77,464,630 (GRCm39)	I152T	probably damaging	Het
Tmem220	A	G	11: 66,916,748 (GRCm39)	D36G	probably damaging	Het
Tmem235	A	C	11: 117,755,177 (GRCm39)	I210L	probably benign	Het
Tmem266	C	T	9: 55,288,168 (GRCm39)		probably null	Het
Tmprss12	A	G	15: 100,178,920 (GRCm39)		probably benign	Het
Trim32	G	A	4: 65,531,491 (GRCm39)	R16Q	probably damaging	Het
Usp38	T	A	8: 81,711,053 (GRCm39)		probably benign	Het
Usp44	C	T	10: 93,682,668 (GRCm39)	P373S	possibly damaging	Het
Vmn1r209	G	T	13: 22,990,118 (GRCm39)	Q191K	probably damaging	Het
Vmn1r70	T	C	7: 10,367,953 (GRCm39)	I147T	probably benign	Het
Vmn2r107	T	A	17: 20,595,394 (GRCm39)	I649N	probably damaging	Het
Vmn2r12	A	T	5: 109,239,755 (GRCm39)	Y269*	probably null	Het
Zan	C	T	5: 137,410,938 (GRCm39)		probably benign	Het
Zfp616	G	T	11: 73,974,306 (GRCm39)	V192L	probably benign	Het
Zfp644	A	T	5: 106,786,199 (GRCm39)	V116D	probably damaging	Het
Zgrf1	T	C	3: 127,378,299 (GRCm39)		probably benign	Het
Zhx3	A	T	2: 160,621,914 (GRCm39)	L751*	probably null	Het
Znfx1	T	A	2: 166,897,331 (GRCm39)	Q531L	probably benign	Het

Other mutations in Sla

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00225:Sla	APN	15	66,654,479 (GRCm39)	missense	possibly damaging	0.59
IGL03180:Sla	APN	15	66,661,569 (GRCm39)	missense	probably benign	0.01
crimson	UTSW	15	66,665,554 (GRCm39)	missense	probably damaging	1.00
Hearst	UTSW	15	66,658,939 (GRCm39)	missense	probably damaging	1.00
R2019:Sla	UTSW	15	66,654,404 (GRCm39)	missense	probably damaging	1.00
R2135:Sla	UTSW	15	66,654,563 (GRCm39)	missense	probably benign	0.30
R2383:Sla	UTSW	15	66,654,525 (GRCm39)	missense	probably damaging	1.00
R3442:Sla	UTSW	15	66,655,509 (GRCm39)	missense	probably benign	0.00
R4495:Sla	UTSW	15	66,673,361 (GRCm39)	missense	probably benign
R5851:Sla	UTSW	15	66,655,572 (GRCm39)	missense	probably damaging	0.98
R5935:Sla	UTSW	15	66,665,554 (GRCm39)	missense	probably damaging	1.00
R6161:Sla	UTSW	15	66,654,447 (GRCm39)	missense	probably null	0.03
R6837:Sla	UTSW	15	66,658,939 (GRCm39)	missense	probably damaging	1.00
R7196:Sla	UTSW	15	66,703,420 (GRCm39)	missense	probably benign	0.00
R8813:Sla	UTSW	15	66,664,127 (GRCm39)	missense	probably benign	0.10
RF022:Sla	UTSW	15	66,654,593 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCCCTGAATTAGGCTGCTTCCTAGAC -3'
(R):5'- CAGATCATGAAAGAGGTGTGTCCCAAG -3'

Sequencing Primer
(F):5'- caacttgcttcattttactgctg -3'
(R):5'- TCCCAAGGGGCAATGAGC -3'

Posted On

2013-05-23