Mutagenetix > Incidental Mutation

Incidental Mutation 'RF022:Sla'

603961

Institutional Source

Beutler Lab

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 #

RF022 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66652668-66703678 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66654593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 231 (G231D)

Ref Sequence

ENSEMBL: ENSMUSP00000131865 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065916] [ENSMUST00000100572] [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: G215D

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

SMART Domains

Protein: ENSMUSP00000098138
Gene: ENSMUSG00000022372
AA Change: G215D

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: ENSMUST00000164163
AA Change: G215D

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

SMART Domains

Protein: ENSMUSP00000127901
Gene: ENSMUSG00000022372
AA Change: G215D

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: ENSMUST00000168522
AA Change: G231D

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

SMART Domains

Protein: ENSMUSP00000131865
Gene: ENSMUSG00000022372
AA Change: G231D

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: G215D

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

SMART Domains

Protein: ENSMUSP00000130222
Gene: ENSMUSG00000022372
AA Change: G215D

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	GTACT	GTACTACT	12: 110,634,877 (GRCm39)		probably null	Het
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,989,553 (GRCm39)		probably benign	Het
Adam6b	A	T	12: 113,455,289 (GRCm39)	E702V	possibly damaging	Het
Arpc3	A	G	5: 122,538,489 (GRCm39)	T7A	probably benign	Het
Bcl3	G	A	7: 19,542,966 (GRCm39)	P393L	probably damaging	Het
Ceacam9	A	G	7: 16,459,304 (GRCm39)	D201G	possibly damaging	Het
Chga	AGC	AGCCGC	12: 102,527,679 (GRCm39)		probably benign	Het
Clgn	A	G	8: 84,152,235 (GRCm39)	K579R	probably damaging	Het
Cntnap2	C	T	6: 46,998,599 (GRCm39)	R884W	probably damaging	Het
Col6a4	A	T	9: 105,954,207 (GRCm39)	D377E	probably damaging	Het
Cort	GCCCACTCGT	G	4: 149,209,869 (GRCm39)		probably benign	Het
D5Ertd579e	A	C	5: 36,772,006 (GRCm39)	I796M	probably damaging	Het
Dmkn	GGTGGAAGTGGTGGAAG	GGTGGAAGTGGTGGAAGAGGTGGAAGTCGTGGAAGTGGTGGAAG	7: 30,466,600 (GRCm39)		probably benign	Het
Dpagt1	G	T	9: 44,243,262 (GRCm39)	V266L	possibly damaging	Het
Ebf3	C	A	7: 136,915,671 (GRCm39)		probably benign	Het
Exd2	AGCAGCCGCAGCC	AGCAGCC	12: 80,522,691 (GRCm39)		probably benign	Het
Flywch1	CACTCCTGGTGT	CACTCCTGGTGTGGGGAGGCTACGTACTCACCAACTCCTGGTGT	17: 23,981,141 (GRCm39)		probably null	Het
Gab3	CTT	CTTATT	X: 74,043,600 (GRCm39)		probably null	Het
Golga4	A	G	9: 118,387,057 (GRCm39)	D1393G	probably damaging	Het
Gpc5	G	A	14: 115,789,688 (GRCm39)	V521I	probably damaging	Het
Grik1	A	T	16: 87,693,225 (GRCm39)	N859K		Het
Insrr	G	A	3: 87,711,792 (GRCm39)	A511T	possibly damaging	Het
Isx	A	G	8: 75,600,474 (GRCm39)	D69G	probably damaging	Het
Kcnh8	G	A	17: 53,285,267 (GRCm39)	R1079H	probably benign	Het
Lkaaear1	CAGCTCCAG	CAGCTCCAGGTCGAGCTCCAG	2: 181,339,370 (GRCm39)		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 75,185,014 (GRCm39)		probably benign	Het
Magel2	A	G	7: 62,029,841 (GRCm39)	E915G	unknown	Het
Maml3	A	G	3: 51,764,083 (GRCm39)	S294P	probably damaging	Het
Mamld1	AGC	AGCCGC	X: 70,162,426 (GRCm39)		probably benign	Het
Mef2d	A	T	3: 88,075,574 (GRCm39)	T486S	probably benign	Het
Ms4a8a	A	G	19: 11,053,689 (GRCm39)	V139A	possibly damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or2z8	T	G	8: 72,812,468 (GRCm39)	*315G	probably null	Het
Pdik1l	GTTTTTGTTTT	GTTTTTGTTTTTTTTTTGTTTT	4: 134,006,678 (GRCm39)		probably null	Het
Pnma8a	TCATGATGCACCTGCTTCAACATC	TCATGATGCACCTGCTTCAACATCGCATGATGCACCTGCTTCAACATC	7: 16,695,352 (GRCm39)		probably benign	Het
Ppfibp2	T	C	7: 107,296,817 (GRCm39)	L177P	probably damaging	Het
Ppp1r13l	ACAGGCACCCTGCTCCGGC	AC	7: 19,102,467 (GRCm39)		probably benign	Het
Ptprh	A	G	7: 4,552,367 (GRCm39)	F966L	probably benign	Het
Rad17	A	G	13: 100,773,593 (GRCm39)	L132S	probably damaging	Het
Raph1	GG	GGGGG	1: 60,528,426 (GRCm39)		probably benign	Het
Rnf126	AGGACGAGG	AG	10: 79,594,977 (GRCm39)		probably null	Het
Rwdd2b	C	T	16: 87,233,558 (GRCm39)	A181T	probably benign	Het
Sh3pxd2b	GCCTGT	GCCTGTTCCTGT	11: 32,373,054 (GRCm39)		probably benign	Het
Six3	CGG	CGGTGG	17: 85,928,784 (GRCm39)		probably benign	Het
Tcof1	CAG	CAGTAG	18: 60,968,807 (GRCm39)		probably benign	Het
Tfeb	GCA	GCAACA	17: 48,097,019 (GRCm39)		probably benign	Het
Tgm5	T	A	2: 120,902,092 (GRCm39)	E192D	probably damaging	Het
Tmem123	A	G	9: 7,791,414 (GRCm39)	Y171C	probably damaging	Het
Tnrc18	G	A	5: 142,759,385 (GRCm39)	A999V		Het
Triobp	C	T	15: 78,858,482 (GRCm39)	P1361L	probably benign	Het
Ubac1	A	T	2: 25,895,470 (GRCm39)	W328R	probably damaging	Het
Ube2q1	A	G	3: 89,688,200 (GRCm39)	N324S	probably benign	Het
Zcchc2	T	C	1: 105,939,472 (GRCm39)	I407T	possibly damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGCCCCAGGCCCAGGCCCAGGCCCAG	6: 125,013,434 (GRCm39)		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
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

Predicted Primers

PCR Primer
(F):5'- TGTGTACAAGCCAGGTCATTAATC -3'
(R):5'- GCCCACCATTGCAAGAAATG -3'

Sequencing Primer
(F):5'- AATCTTCAAAGTACTGGGGTGC -3'
(R):5'- GCTACAAAAATCTAACCTCCTT -3'

Posted On

2019-12-04