Mutagenetix > Incidental Mutation

Incidental Mutation 'R6998:Sh3glb2'

544324

Institutional Source

Beutler Lab

Gene Symbol

Sh3glb2

Ensembl Gene

ENSMUSG00000026860

Gene Name

SH3-domain GRB2-like endophilin B2

Synonyms

MMRRC Submission

045010-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

R6998 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30234821-30249349 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30245333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 49 (T49S)

Ref Sequence

ENSEMBL: ENSMUSP00000109251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028214] [ENSMUST00000100215] [ENSMUST00000113620] [ENSMUST00000113621] [ENSMUST00000163668]

AlphaFold

Q8R3V5

Predicted Effect

probably damaging
Transcript: ENSMUST00000028214
AA Change: T49S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028214
Gene: ENSMUSG00000026860
AA Change: T49S

Domain	Start	End	E-Value	Type
BAR	7	280	8.25e-92	SMART
low complexity region	288	334	N/A	INTRINSIC
SH3	338	395	2.16e-12	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000100215
AA Change: T49S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097788
Gene: ENSMUSG00000026860
AA Change: T49S

Domain	Start	End	E-Value	Type
BAR	7	280	4.42e-92	SMART
low complexity region	293	339	N/A	INTRINSIC
SH3	343	400	2.16e-12	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113620
AA Change: T49S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109250
Gene: ENSMUSG00000026860
AA Change: T49S

Domain	Start	End	E-Value	Type
BAR	7	259	3.85e-92	SMART
low complexity region	267	313	N/A	INTRINSIC
SH3	317	374	2.16e-12	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113621
AA Change: T49S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109251
Gene: ENSMUSG00000026860
AA Change: T49S

Domain	Start	End	E-Value	Type
BAR	7	284	5.36e-91	SMART
low complexity region	297	343	N/A	INTRINSIC
SH3	347	404	2.16e-12	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000163668
AA Change: T49S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131545
Gene: ENSMUSG00000026860
AA Change: T49S

Domain	Start	End	E-Value	Type
BAR	7	259	2.06e-92	SMART
low complexity region	272	318	N/A	INTRINSIC
SH3	322	379	2.16e-12	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	A	G	3: 98,070,026 (GRCm39)	R620G	probably benign	Het
Adcy1	A	C	11: 7,029,026 (GRCm39)	N259H	probably damaging	Het
Ahctf1	G	A	1: 179,598,480 (GRCm39)	R2*	probably null	Het
Akr1c21	A	G	13: 4,633,850 (GRCm39)	I306M	probably benign	Het
Alg9	T	A	9: 50,700,921 (GRCm39)	S230R	possibly damaging	Het
Armt1	T	A	10: 4,403,937 (GRCm39)	C341S	probably benign	Het
Aspg	T	A	12: 112,078,628 (GRCm39)	L29M	probably damaging	Het
Aspm	C	T	1: 139,397,210 (GRCm39)	T934I	probably damaging	Het
C1rl	T	C	6: 124,485,861 (GRCm39)	S411P	probably damaging	Het
Card14	A	G	11: 119,213,725 (GRCm39)	E224G	probably damaging	Het
Ccdc88c	T	C	12: 100,883,111 (GRCm39)	H1587R	probably damaging	Het
Ccp110	A	G	7: 118,332,120 (GRCm39)	T963A	possibly damaging	Het
Cdk11b	G	A	4: 155,732,800 (GRCm39)	W546*	probably null	Het
Cyp8b1	T	C	9: 121,745,059 (GRCm39)	N91S	probably benign	Het
Dab2	G	T	15: 6,454,130 (GRCm39)	M213I	possibly damaging	Het
Decr1	A	G	4: 15,930,960 (GRCm39)	V124A	probably damaging	Het
Fbxl13	T	A	5: 21,748,687 (GRCm39)	I411F	probably damaging	Het
Fbxl13	T	C	5: 21,825,611 (GRCm39)	I164V	probably null	Het
Fndc7	G	A	3: 108,783,964 (GRCm39)	A215V	probably benign	Het
Garem2	T	C	5: 30,319,168 (GRCm39)	M210T	possibly damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Ighv1-52	C	A	12: 115,109,112 (GRCm39)	A115S	probably benign	Het
Igkv6-13	A	G	6: 70,434,573 (GRCm39)	S91P	probably damaging	Het
Ints8	T	A	4: 11,204,537 (GRCm39)	E973V	possibly damaging	Het
Itga3	T	C	11: 94,942,288 (GRCm39)	K972R	probably benign	Het
Klhl33	A	T	14: 51,130,478 (GRCm39)	F339I	probably benign	Het
Krt79	T	C	15: 101,846,307 (GRCm39)	M214V	probably benign	Het
Lgsn	A	T	1: 31,243,274 (GRCm39)	H452L	probably benign	Het
Limd2	C	T	11: 106,049,516 (GRCm39)	G124D	probably benign	Het
Luzp1	T	C	4: 136,270,755 (GRCm39)	S993P	probably damaging	Het
Maml2	C	T	9: 13,532,481 (GRCm39)		probably benign	Het
Mbtd1	A	T	11: 93,815,438 (GRCm39)	H342L	probably damaging	Het
Mfhas1	C	A	8: 36,058,510 (GRCm39)	P995Q	probably damaging	Het
Muc5ac	T	C	7: 141,372,451 (GRCm39)	F3399S	possibly damaging	Het
Napb	T	C	2: 148,542,345 (GRCm39)	Y205C	probably damaging	Het
Odf2	G	T	2: 29,802,629 (GRCm39)	A298S	probably benign	Het
Or11g7	A	T	14: 50,690,890 (GRCm39)	Y127F	probably benign	Het
Or4s2b	A	T	2: 88,508,852 (GRCm39)	I218F	probably benign	Het
Or8k35	A	T	2: 86,424,488 (GRCm39)	M228K	probably damaging	Het
Pcsk5	T	C	19: 17,450,476 (GRCm39)	D1124G	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pik3c2b	T	G	1: 133,030,110 (GRCm39)	I1457S	probably benign	Het
Pole2	T	C	12: 69,260,680 (GRCm39)	T167A	possibly damaging	Het
Rfx7	T	A	9: 72,525,787 (GRCm39)	S992R	probably damaging	Het
Ryr2	G	T	13: 11,727,052 (GRCm39)	S2436R	probably damaging	Het
Sgo2a	A	G	1: 58,055,799 (GRCm39)	D661G	probably damaging	Het
Slc16a10	T	C	10: 39,932,499 (GRCm39)	K354R	possibly damaging	Het
Slc6a6	C	A	6: 91,729,419 (GRCm39)	T568K	probably benign	Het
Sptbn1	T	C	11: 30,050,633 (GRCm39)	T2319A	probably damaging	Het
Tbl1xr1	T	A	3: 22,233,454 (GRCm39)	Y15N	probably damaging	Het
Thyn1	T	C	9: 26,917,738 (GRCm39)	S160P	probably damaging	Het
Tshz1	A	T	18: 84,033,966 (GRCm39)	D147E	probably benign	Het
Vmn2r50	T	G	7: 9,771,684 (GRCm39)	R672S	probably benign	Het
Zfp663	A	T	2: 165,195,922 (GRCm39)	I99N	possibly damaging	Het

Other mutations in Sh3glb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01638:Sh3glb2	APN	2	30,235,862 (GRCm39)	missense	possibly damaging	0.73
IGL02189:Sh3glb2	APN	2	30,235,351 (GRCm39)	splice site	probably null
IGL02724:Sh3glb2	APN	2	30,236,368 (GRCm39)	missense	probably benign	0.02
IGL03352:Sh3glb2	APN	2	30,235,363 (GRCm39)	missense	probably damaging	1.00
R1162:Sh3glb2	UTSW	2	30,240,600 (GRCm39)	missense	probably damaging	1.00
R1517:Sh3glb2	UTSW	2	30,244,987 (GRCm39)	missense	probably damaging	1.00
R1725:Sh3glb2	UTSW	2	30,240,679 (GRCm39)	nonsense	probably null
R3894:Sh3glb2	UTSW	2	30,245,300 (GRCm39)	missense	probably damaging	0.97
R4523:Sh3glb2	UTSW	2	30,240,711 (GRCm39)	missense	probably damaging	0.98
R5587:Sh3glb2	UTSW	2	30,244,863 (GRCm39)	critical splice donor site	probably null
R5933:Sh3glb2	UTSW	2	30,240,401 (GRCm39)	splice site	probably null
R6215:Sh3glb2	UTSW	2	30,235,805 (GRCm39)	missense	possibly damaging	0.88
R6679:Sh3glb2	UTSW	2	30,240,631 (GRCm39)	missense	probably damaging	1.00
R8499:Sh3glb2	UTSW	2	30,249,216 (GRCm39)	start codon destroyed	probably null	1.00
R8500:Sh3glb2	UTSW	2	30,249,216 (GRCm39)	start codon destroyed	probably null	1.00
R9380:Sh3glb2	UTSW	2	30,238,625 (GRCm39)	missense	probably damaging	0.96
R9594:Sh3glb2	UTSW	2	30,236,672 (GRCm39)	missense	probably damaging	1.00
R9595:Sh3glb2	UTSW	2	30,236,672 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCCAAGTCTCACAGAGCTG -3'
(R):5'- ACCAGAGATGCTATGGGGTTTC -3'

Sequencing Primer
(F):5'- GTCTCACAGAGCTGAAGTCAG -3'
(R):5'- GGTTTCCAGGAGCCTCAATC -3'

Posted On

2019-05-13