Mutagenetix > Incidental Mutation

Incidental Mutation 'R6161:Sla'

489891

Institutional Source

Beutler Lab

Gene Symbol

Sla

Ensembl Gene

ENSMUSG00000022372

Gene Name

src-like adaptor

Synonyms

Slap-1, Slap

MMRRC Submission

044308-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6161 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66652668-66703678 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66654447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 280 (T280A)

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: T264A

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000098138
Gene: ENSMUSG00000022372
AA Change: T264A

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: T264A

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000127901
Gene: ENSMUSG00000022372
AA Change: T264A

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 null
Transcript: ENSMUST00000168522
AA Change: T280A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000131865
Gene: ENSMUSG00000022372
AA Change: T280A

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: T264A

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000130222
Gene: ENSMUSG00000022372
AA Change: T264A

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

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.9%

Validation Efficiency

100% (54/54)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,139,934 (GRCm39)	K1533M	probably damaging	Het
Aldh1l2	C	T	10: 83,356,202 (GRCm39)	V63I	probably benign	Het
Atr	A	G	9: 95,747,372 (GRCm39)	H218R	probably benign	Het
Atxn7l1	T	A	12: 33,408,662 (GRCm39)	S275T	possibly damaging	Het
Cacna1c	T	C	6: 119,034,263 (GRCm39)	K88R	probably damaging	Het
Ccl7	T	C	11: 81,937,412 (GRCm39)	Y49H	probably damaging	Het
Cers5	A	G	15: 99,636,544 (GRCm39)		probably null	Het
Chuk	T	C	19: 44,071,076 (GRCm39)	E543G	probably damaging	Het
Dip2c	T	C	13: 9,697,043 (GRCm39)	V1318A	probably damaging	Het
Ercc5	A	G	1: 44,206,512 (GRCm39)	H475R	probably benign	Het
Fat3	A	G	9: 16,288,818 (GRCm39)	L235P	probably damaging	Het
Fbn1	A	T	2: 125,211,721 (GRCm39)	C892*	probably null	Het
Fbxw8	T	C	5: 118,230,740 (GRCm39)	T354A	possibly damaging	Het
Fsip2	A	C	2: 82,817,601 (GRCm39)	T4445P	possibly damaging	Het
Gpld1	A	T	13: 25,155,397 (GRCm39)	Q344L	probably benign	Het
Hao1	A	T	2: 134,347,545 (GRCm39)	D253E	probably benign	Het
Hmcn2	A	G	2: 31,246,266 (GRCm39)	D745G	probably benign	Het
Kcnt1	A	G	2: 25,793,397 (GRCm39)	T658A	probably benign	Het
Klhl35	A	G	7: 99,122,544 (GRCm39)		probably benign	Het
Lnx2	C	T	5: 146,978,836 (GRCm39)		probably null	Het
Map3k5	T	C	10: 19,876,321 (GRCm39)	V160A	probably damaging	Het
Masp2	A	T	4: 148,698,469 (GRCm39)	I517F	possibly damaging	Het
Mc4r	A	T	18: 66,992,251 (GRCm39)	Y287*	probably null	Het
Mthfr	A	G	4: 148,126,211 (GRCm39)	D94G	probably benign	Het
Muc16	A	G	9: 18,559,114 (GRCm39)	I2393T	unknown	Het
Mybbp1a	G	T	11: 72,336,838 (GRCm39)	V557L	probably damaging	Het
Mycbp2	A	T	14: 103,536,183 (GRCm39)	W256R	probably damaging	Het
Nacad	G	A	11: 6,550,902 (GRCm39)	S763L	probably benign	Het
Nebl	A	G	2: 17,735,641 (GRCm39)	V11A	probably benign	Het
Notch1	A	T	2: 26,358,743 (GRCm39)	C1363S	probably damaging	Het
Nphp3	A	G	9: 103,909,105 (GRCm39)	N772D	probably benign	Het
Nqo2	G	A	13: 34,163,634 (GRCm39)	V98M	probably damaging	Het
Pak4	A	G	7: 28,264,692 (GRCm39)	I70T	possibly damaging	Het
Pbx2	A	G	17: 34,812,574 (GRCm39)	K2E	probably damaging	Het
Pikfyve	A	G	1: 65,255,202 (GRCm39)	T352A	probably benign	Het
Polr1g	G	A	7: 19,091,558 (GRCm39)	T183I	possibly damaging	Het
Pop1	T	C	15: 34,526,456 (GRCm39)	Y684H	probably damaging	Het
Rpa1	A	G	11: 75,205,721 (GRCm39)	V212A	probably damaging	Het
Rpap2	A	G	5: 107,768,536 (GRCm39)	E458G	probably damaging	Het
Sin3a	T	C	9: 57,002,708 (GRCm39)	V200A	possibly damaging	Het
Slc22a26	A	T	19: 7,763,812 (GRCm39)	I406K	possibly damaging	Het
Slc24a1	T	C	9: 64,844,545 (GRCm39)	N606S	unknown	Het
Slc39a10	G	A	1: 46,866,567 (GRCm39)	T443M	probably damaging	Het
Smg1	A	T	7: 117,762,553 (GRCm39)		probably benign	Het
Sra1	G	A	18: 36,803,336 (GRCm39)	A9V	probably damaging	Het
Stard4	A	G	18: 33,342,109 (GRCm39)	V47A	probably damaging	Het
Stat4	A	T	1: 52,113,836 (GRCm39)	D182V	possibly damaging	Het
Syt1	A	G	10: 108,467,668 (GRCm39)	F210L	probably damaging	Het
Ube2q1	T	A	3: 89,688,667 (GRCm39)		probably null	Het
Vmn1r159	C	T	7: 22,542,612 (GRCm39)	C140Y	possibly damaging	Het
Wnt8a	T	C	18: 34,678,599 (GRCm39)	F138L	possibly damaging	Het
Zfp623	T	A	15: 75,820,470 (GRCm39)	D475E	probably benign	Het
Zfp646	C	T	7: 127,477,897 (GRCm39)	R25W	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
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
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'- CAGTTCTTTGACGCACTGCC -3'
(R):5'- TTGACACACAGATTGCAAGAAG -3'

Sequencing Primer
(F):5'- CCTCTGATCAGTGTGTAAAGGCAG -3'
(R):5'- CACACAGATTGCAAGAAGGTTCAG -3'

Posted On

2017-10-10