Mutagenetix > Incidental Mutations

Incidental Mutation 'R1270:Shf'

151264

Institutional Source

Beutler Lab

Gene Symbol

Shf

Ensembl Gene

ENSMUSG00000033256

Gene Name

Src homology 2 domain containing F

Synonyms

MMRRC Submission

039336-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1270 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

122348892-122369162 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 122368682 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 51 (P51S)

Ref Sequence

ENSEMBL: ENSMUSP00000106161 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048635] [ENSMUST00000110531] [ENSMUST00000110532] [ENSMUST00000125826]

AlphaFold

Q8CG80

Predicted Effect

probably benign
Transcript: ENSMUST00000048635

SMART Domains

Protein: ENSMUSP00000045135
Gene: ENSMUSG00000033256

Domain	Start	End	E-Value	Type
low complexity region	48	67	N/A	INTRINSIC
SH2	136	220	9.16e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110531

SMART Domains

Protein: ENSMUSP00000106160
Gene: ENSMUSG00000033256

Domain	Start	End	E-Value	Type
low complexity region	48	67	N/A	INTRINSIC
SH2	136	220	9.16e-27	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000110532
AA Change: P51S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106161
Gene: ENSMUSG00000033256
AA Change: P51S

Domain	Start	End	E-Value	Type
low complexity region	19	38	N/A	INTRINSIC
low complexity region	45	61	N/A	INTRINSIC
low complexity region	77	87	N/A	INTRINSIC
low complexity region	146	165	N/A	INTRINSIC
Blast:SH2	225	278	2e-22	BLAST
SCOP:d1ayaa_	237	291	1e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125826
AA Change: P161S

PolyPhen 2 Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117099
Gene: ENSMUSG00000033256
AA Change: P161S

Domain	Start	End	E-Value	Type
low complexity region	14	56	N/A	INTRINSIC
low complexity region	76	105	N/A	INTRINSIC
low complexity region	129	148	N/A	INTRINSIC
low complexity region	155	171	N/A	INTRINSIC
low complexity region	187	197	N/A	INTRINSIC
low complexity region	256	275	N/A	INTRINSIC
SH2	344	428	9.16e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000151130
AA Change: P152S

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114524
Gene: ENSMUSG00000033256
AA Change: P152S

Domain	Start	End	E-Value	Type
low complexity region	6	48	N/A	INTRINSIC
low complexity region	68	97	N/A	INTRINSIC
low complexity region	121	140	N/A	INTRINSIC
low complexity region	147	163	N/A	INTRINSIC
low complexity region	179	189	N/A	INTRINSIC
low complexity region	248	267	N/A	INTRINSIC

Meta Mutation Damage Score

0.1519

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 36,952,184	H1662Q	probably damaging	Het
Abcc3	C	T	11: 94,357,384	R1129Q	probably damaging	Het
Adam7	T	A	14: 68,527,669	K93M	probably damaging	Het
Aldh1a2	T	G	9: 71,281,706	L301V	probably benign	Het
Alg9	A	G	9: 50,787,572		probably benign	Het
Aspg	C	T	12: 112,116,447	T187I	probably damaging	Het
C4a	A	G	17: 34,814,528		noncoding transcript	Het
Cdh2	T	G	18: 16,627,557		probably benign	Het
Ceacam1	T	C	7: 25,466,314		probably null	Het
Cep250	G	A	2: 155,990,681	V1509I	probably benign	Het
D130043K22Rik	T	C	13: 24,857,338	S248P	probably benign	Het
Dgkd	A	T	1: 87,934,125	M801L	probably damaging	Het
E330021D16Rik	A	T	6: 136,401,787	I15N	probably damaging	Het
Edc4	A	G	8: 105,891,264	E1152G	possibly damaging	Het
Enkd1	A	G	8: 105,703,901	I334T	probably damaging	Het
Gli3	C	T	13: 15,723,744	A803V	probably benign	Het
Glrx3	A	G	7: 137,453,414	N95S	probably benign	Het
Ints2	C	T	11: 86,233,085	G626R	probably damaging	Het
Kank2	A	T	9: 21,772,760	N724K	probably damaging	Het
Kctd20	A	G	17: 28,966,931	D416G	possibly damaging	Het
Lmtk3	A	G	7: 45,793,828	E645G	probably damaging	Het
Mrgpra9	A	T	7: 47,252,783		probably null	Het
Muc1	T	A	3: 89,232,107	Y605N	probably damaging	Het
Olfr1256	C	T	2: 89,835,322	V208M	possibly damaging	Het
Olfr146	A	C	9: 39,019,247	I98R	possibly damaging	Het
Prx	T	A	7: 27,518,930	I952N	probably damaging	Het
Skint5	A	T	4: 113,942,659	Y90*	probably null	Het
Swt1	A	T	1: 151,384,391	N752K	probably benign	Het
Taar1	T	C	10: 23,920,533	V43A	probably damaging	Het
Tenm2	T	C	11: 36,041,659	N1702D	probably damaging	Het
Tff2	C	T	17: 31,144,169		probably null	Het
Trim2	G	A	3: 84,167,677	A686V	probably damaging	Het

Other mutations in Shf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02726:Shf	APN	2	122359488	missense	probably damaging	1.00
FR4589:Shf	UTSW	2	122354177	small insertion	probably benign
R0624:Shf	UTSW	2	122368635	splice site	probably benign
R0993:Shf	UTSW	2	122368682	missense	probably damaging	0.96
R1180:Shf	UTSW	2	122368682	missense	probably damaging	0.96
R1181:Shf	UTSW	2	122368682	missense	probably damaging	0.96
R1193:Shf	UTSW	2	122368682	missense	probably damaging	0.96
R1194:Shf	UTSW	2	122368682	missense	probably damaging	0.96
R1195:Shf	UTSW	2	122368682	missense	probably damaging	0.96
R1195:Shf	UTSW	2	122368682	missense	probably damaging	0.96
R1257:Shf	UTSW	2	122368682	missense	probably damaging	0.96
R1258:Shf	UTSW	2	122368682	missense	probably damaging	0.96
R1260:Shf	UTSW	2	122368682	missense	probably damaging	0.96
R1267:Shf	UTSW	2	122368682	missense	probably damaging	0.96
R1268:Shf	UTSW	2	122368682	missense	probably damaging	0.96
R1269:Shf	UTSW	2	122368682	missense	probably damaging	0.96
R1271:Shf	UTSW	2	122368682	missense	probably damaging	0.96
R1273:Shf	UTSW	2	122368682	missense	probably damaging	0.96
R1388:Shf	UTSW	2	122368682	missense	probably damaging	0.96
R1448:Shf	UTSW	2	122368682	missense	probably damaging	0.96
R1494:Shf	UTSW	2	122368682	missense	probably damaging	0.96
R1615:Shf	UTSW	2	122349432	missense	probably damaging	1.00
R1697:Shf	UTSW	2	122368682	missense	probably damaging	0.96
R1756:Shf	UTSW	2	122368682	missense	probably damaging	0.96
R1820:Shf	UTSW	2	122368682	missense	probably damaging	0.96
R1950:Shf	UTSW	2	122368682	missense	probably damaging	0.96
R3732:Shf	UTSW	2	122345207	unclassified	probably benign
R6794:Shf	UTSW	2	122353840	missense	probably damaging	1.00
R7414:Shf	UTSW	2	122359582	missense	possibly damaging	0.50
R8230:Shf	UTSW	2	122349487	missense	probably damaging	1.00
R8970:Shf	UTSW	2	122357173	missense	probably benign	0.01
R8997:Shf	UTSW	2	122357247	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCCTAACAGGAAACAGGGCAGAGTT -3'
(R):5'- CAGCGGTGGAGTCGCAAAGT -3'

Sequencing Primer
(F):5'- GGTTAAAATTTGAGCCCCCG -3'
(R):5'- GAGCACCTGGGCTTTCG -3'

Posted On

2014-01-29