Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03180:Sla'

412166

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sla

Ensembl Gene

ENSMUSG00000022372

Gene Name

src-like adaptor

Synonyms

Slap-1, Slap

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03180

Quality Score

Status

Chromosome

Chromosomal Location

66652668-66703678 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66661569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 121 (I121T)

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: I105T

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

SMART Domains

Protein: ENSMUSP00000098138
Gene: ENSMUSG00000022372
AA Change: I105T

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: I105T

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

SMART Domains

Protein: ENSMUSP00000127901
Gene: ENSMUSG00000022372
AA Change: I105T

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: I121T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000131865
Gene: ENSMUSG00000022372
AA Change: I121T

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: I105T

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

SMART Domains

Protein: ENSMUSP00000130222
Gene: ENSMUSG00000022372
AA Change: I105T

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

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

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

Coding Region Coverage

Validation Efficiency

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,082,951 (GRCm39)	Y321H	probably benign	Het
Adam28	T	A	14: 68,874,883 (GRCm39)	I265L	probably damaging	Het
Adcy8	T	C	15: 64,655,799 (GRCm39)	D560G	possibly damaging	Het
Aff3	A	G	1: 38,574,743 (GRCm39)	M79T	probably damaging	Het
Ahctf1	A	G	1: 179,602,895 (GRCm39)		probably null	Het
Aspn	C	T	13: 49,716,991 (GRCm39)	R256W	probably damaging	Het
Birc6	T	C	17: 74,966,226 (GRCm39)	V4051A	probably benign	Het
Cfap46	G	A	7: 139,183,168 (GRCm39)	L2584F	unknown	Het
Chdh	T	A	14: 29,756,559 (GRCm39)		probably null	Het
Clasp1	A	G	1: 118,433,255 (GRCm39)	T245A	probably benign	Het
Clec4a1	G	A	6: 122,901,777 (GRCm39)	V70I	probably benign	Het
Cpt2	A	T	4: 107,764,157 (GRCm39)	S536T	probably damaging	Het
Dnah9	A	T	11: 65,777,465 (GRCm39)	H3694Q	probably damaging	Het
Dntt	T	A	19: 41,017,990 (GRCm39)	F38Y	probably benign	Het
Dync2i1	T	C	12: 116,182,485 (GRCm39)	S706G	probably benign	Het
Eif4ebp2	T	C	10: 61,269,589 (GRCm39)	E117G	probably damaging	Het
Eif5b	T	C	1: 38,075,350 (GRCm39)	I609T	probably damaging	Het
Esam	G	A	9: 37,445,866 (GRCm39)	G135S	probably damaging	Het
Fut7	C	A	2: 25,315,465 (GRCm39)	A241D	possibly damaging	Het
Grin2d	T	A	7: 45,502,753 (GRCm39)	K706M	probably damaging	Het
Grip2	A	G	6: 91,762,742 (GRCm39)		probably benign	Het
Gtf2ird2	A	G	5: 134,220,087 (GRCm39)	T22A	probably damaging	Het
Hadh	T	C	3: 131,065,533 (GRCm39)	I42V	probably benign	Het
Iqsec3	T	A	6: 121,390,467 (GRCm39)		probably benign	Het
Izumo3	G	A	4: 92,034,524 (GRCm39)		probably benign	Het
Ldlrad1	G	T	4: 107,075,032 (GRCm39)	C193F	probably damaging	Het
Lgals4	G	A	7: 28,537,053 (GRCm39)	G118R	probably damaging	Het
Map4k1	A	C	7: 28,687,510 (GRCm39)	E136A	probably damaging	Het
Mapk8ip1	G	T	2: 92,217,257 (GRCm39)	P346Q	possibly damaging	Het
Mrtfb	A	G	16: 13,216,196 (GRCm39)	K303E	probably damaging	Het
Nlrp14	T	A	7: 106,781,833 (GRCm39)	H343Q	probably benign	Het
Ogg1	T	G	6: 113,310,455 (GRCm39)		probably null	Het
Or12k8	C	T	2: 36,975,722 (GRCm39)	V13M	possibly damaging	Het
Or5m10	A	T	2: 85,717,740 (GRCm39)	M199L	probably benign	Het
Pacc1	G	T	1: 191,071,089 (GRCm39)	V82F	probably damaging	Het
Pafah1b1	A	T	11: 74,574,344 (GRCm39)	C281S	possibly damaging	Het
Papss1	C	T	3: 131,313,143 (GRCm39)	R386W	probably damaging	Het
Pex5	A	G	6: 124,390,522 (GRCm39)		probably benign	Het
Pibf1	C	A	14: 99,370,780 (GRCm39)	Q261K	probably benign	Het
Plcb3	T	C	19: 6,933,521 (GRCm39)	S935G	probably benign	Het
Polg	A	G	7: 79,101,601 (GRCm39)		probably benign	Het
Ptpdc1	G	A	13: 48,739,553 (GRCm39)	T626I	probably damaging	Het
Rab34	A	T	11: 78,081,144 (GRCm39)	Y87F	probably damaging	Het
Rsrc1	T	G	3: 66,989,876 (GRCm39)		probably benign	Het
Ryr2	T	C	13: 11,583,449 (GRCm39)	N4735S	possibly damaging	Het
Scn7a	T	C	2: 66,506,578 (GRCm39)	D1437G	possibly damaging	Het
Sdk1	A	G	5: 142,071,497 (GRCm39)	E1229G	probably damaging	Het
Sez6l	A	T	5: 112,584,151 (GRCm39)	V806D	probably damaging	Het
Sgsm2	A	C	11: 74,759,401 (GRCm39)		probably null	Het
Son	T	C	16: 91,453,896 (GRCm39)	L881S	probably damaging	Het
Srms	A	G	2: 180,854,573 (GRCm39)		probably benign	Het
Stoml1	T	C	9: 58,168,200 (GRCm39)	S304P	probably damaging	Het
Stt3a	T	C	9: 36,670,552 (GRCm39)	D73G	probably damaging	Het
Tpp1	T	C	7: 105,395,856 (GRCm39)	T558A	probably benign	Het
Trp53i13	T	C	11: 77,403,528 (GRCm39)		probably benign	Het
Vmn2r77	A	G	7: 86,450,843 (GRCm39)	Y243C	possibly damaging	Het
Vwde	T	C	6: 13,205,764 (GRCm39)	D261G	probably damaging	Het
Zfpm2	A	G	15: 40,964,790 (GRCm39)	K293R	probably damaging	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
crimson	UTSW	15	66,665,554 (GRCm39)	missense	probably damaging	1.00
Hearst	UTSW	15	66,658,939 (GRCm39)	missense	probably damaging	1.00
R0497:Sla	UTSW	15	66,664,098 (GRCm39)	missense	probably benign	0.00
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

Posted On

2016-08-02