Mutagenetix > Incidental Mutation

Incidental Mutation 'R1448:Shf'

159014

Institutional Source

Beutler Lab

Gene Symbol

Shf

Ensembl Gene

ENSMUSG00000033256

Gene Name

Src homology 2 domain containing F

Synonyms

MMRRC Submission

039503-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1448 (G1)

Quality Score

127

Status

Not validated

Chromosome

Chromosomal Location

122179373-122199643 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 122199163 bp (GRCm39)

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: 98.8%
3x: 97.8%
10x: 94.6%
20x: 87.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417H12Rik	T	A	7: 107,223,952 (GRCm39)		probably benign	Het
A1cf	A	T	19: 31,886,196 (GRCm39)	N35I	possibly damaging	Het
Abca2	T	C	2: 25,330,542 (GRCm39)	I1106T	possibly damaging	Het
Abca4	G	A	3: 121,956,577 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,581,632 (GRCm39)	D4804G	probably benign	Het
Adk	T	A	14: 21,102,708 (GRCm39)	M1K	probably null	Het
Aff3	T	C	1: 38,230,364 (GRCm39)	N1006D	probably damaging	Het
Akap12	A	G	10: 4,305,475 (GRCm39)	T762A	probably benign	Het
Atosa	C	G	9: 74,917,456 (GRCm39)	S685*	probably null	Het
Atp12a	T	A	14: 56,623,296 (GRCm39)	M843K	probably damaging	Het
Bbx	T	A	16: 50,086,633 (GRCm39)	K169*	probably null	Het
Bicra	A	T	7: 15,722,284 (GRCm39)	V411E	possibly damaging	Het
Camk1d	A	T	2: 5,366,836 (GRCm39)	Y126*	probably null	Het
Cel	T	C	2: 28,446,338 (GRCm39)	Y511C	probably damaging	Het
Celf4	G	T	18: 25,636,140 (GRCm39)		probably null	Het
Clasp1	A	G	1: 118,436,646 (GRCm39)	N310S	probably benign	Het
Col6a3	T	C	1: 90,709,577 (GRCm39)	K1873R	unknown	Het
Cstf1	A	G	2: 172,217,795 (GRCm39)	D136G	probably damaging	Het
Cwc22	T	A	2: 77,741,899 (GRCm39)	E470D	probably damaging	Het
Cxcr2	A	T	1: 74,197,527 (GRCm39)	D7V	probably benign	Het
Cytip	A	G	2: 58,035,192 (GRCm39)	I168T	probably damaging	Het
D5Ertd579e	A	G	5: 36,760,083 (GRCm39)	L1359P	probably benign	Het
Ddx25	A	C	9: 35,469,034 (GRCm39)	V26G	probably benign	Het
Dennd4a	T	A	9: 64,813,327 (GRCm39)	S1429T	possibly damaging	Het
Dmd	A	G	X: 83,892,306 (GRCm39)	D2990G	probably damaging	Het
Dop1a	C	A	9: 86,424,785 (GRCm39)		probably null	Het
Eps8	T	C	6: 137,499,852 (GRCm39)	Q209R	possibly damaging	Het
Fabp6	T	A	11: 43,486,992 (GRCm39)	I112F	probably benign	Het
Fbxw10	T	C	11: 62,738,418 (GRCm39)	V104A	possibly damaging	Het
Gp1ba	C	T	11: 70,532,253 (GRCm39)	P673L	probably damaging	Het
Grin3a	T	C	4: 49,702,804 (GRCm39)	Y894C	probably damaging	Het
Hydin	C	T	8: 111,173,217 (GRCm39)	H967Y	probably benign	Het
Ip6k3	T	C	17: 27,364,242 (GRCm39)	K269E	possibly damaging	Het
Jup	T	C	11: 100,274,026 (GRCm39)	K172E	probably damaging	Het
Katnal1	T	C	5: 148,841,486 (GRCm39)	D126G	probably benign	Het
Knl1	A	T	2: 118,898,788 (GRCm39)	K163M	probably damaging	Het
Krt17	C	T	11: 100,148,365 (GRCm39)	E359K	possibly damaging	Het
Lct	T	A	1: 128,235,559 (GRCm39)	I483F	probably damaging	Het
Loxl2	G	A	14: 69,930,489 (GRCm39)	G751D	probably damaging	Het
Ltbp4	G	A	7: 27,006,002 (GRCm39)	R1559C	possibly damaging	Het
Man2c1	T	A	9: 57,042,503 (GRCm39)	D183E	probably benign	Het
Med17	T	C	9: 15,187,139 (GRCm39)		probably null	Het
Mrgpra9	A	C	7: 46,885,561 (GRCm39)	S34R	probably benign	Het
Mrpl44	T	A	1: 79,755,677 (GRCm39)	N94K	probably damaging	Het
Nat8f1	A	G	6: 85,887,924 (GRCm39)	V12A	probably benign	Het
Nr2e3	C	A	9: 59,850,797 (GRCm39)	G354V	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nup155	T	C	15: 8,141,890 (GRCm39)	V94A	probably benign	Het
Or14a256	A	T	7: 86,265,569 (GRCm39)	C95S	probably damaging	Het
Or52h2	C	T	7: 103,839,082 (GRCm39)	V111I	possibly damaging	Het
Or5p76	T	C	7: 108,122,525 (GRCm39)	I211V	probably benign	Het
Or9q2	A	T	19: 13,772,140 (GRCm39)	Y278*	probably null	Het
Pcdhb10	A	T	18: 37,545,556 (GRCm39)	I211F	possibly damaging	Het
Phip	A	C	9: 82,797,476 (GRCm39)	I509S	possibly damaging	Het
Pkhd1	C	T	1: 20,655,381 (GRCm39)		probably null	Het
Psme4	T	G	11: 30,802,744 (GRCm39)	L1487R	probably damaging	Het
Ptgdr2	A	G	19: 10,917,857 (GRCm39)	S125G	probably damaging	Het
Ptpro	A	G	6: 137,418,114 (GRCm39)	K126E	probably damaging	Het
Rdh16f2	T	A	10: 127,712,794 (GRCm39)	V264E	probably benign	Het
Ric8b	C	T	10: 84,783,535 (GRCm39)	A131V	possibly damaging	Het
Rock1	A	T	18: 10,070,233 (GRCm39)	I1280N	probably damaging	Het
Rprd2	A	G	3: 95,725,888 (GRCm39)	V59A	possibly damaging	Het
Ruvbl1	T	A	6: 88,444,551 (GRCm39)	C49S	probably benign	Het
Scn2a	A	G	2: 65,514,189 (GRCm39)	N291S	probably benign	Het
Serbp1	T	A	6: 67,254,904 (GRCm39)	H325Q	probably damaging	Het
Shisal2b	T	C	13: 104,982,470 (GRCm39)	I151V	probably benign	Het
Slitrk3	G	A	3: 72,957,674 (GRCm39)	T366I	probably damaging	Het
Spryd3	A	T	15: 102,026,827 (GRCm39)	H307Q	possibly damaging	Het
Spx	A	T	6: 142,364,239 (GRCm39)	D100V	probably benign	Het
Surf4	A	G	2: 26,814,476 (GRCm39)	F142L	probably damaging	Het
Syne2	T	A	12: 76,067,099 (GRCm39)		probably null	Het
Syne2	T	C	12: 76,098,952 (GRCm39)	M5278T	possibly damaging	Het
Thap12	T	C	7: 98,365,230 (GRCm39)	V466A	probably benign	Het
Thap3	T	C	4: 152,067,673 (GRCm39)	K135R	possibly damaging	Het
Tmem131	G	T	1: 36,866,439 (GRCm39)	D448E	probably benign	Het
Tmem63b	C	G	17: 45,989,904 (GRCm39)	R88P	possibly damaging	Het
Trim43a	G	T	9: 88,464,146 (GRCm39)	C19F	probably damaging	Het
Trp63	C	T	16: 25,707,870 (GRCm39)	P526L	possibly damaging	Het
Ubqln3	T	C	7: 103,791,997 (GRCm39)	D31G	probably damaging	Het
Utp14b	C	A	1: 78,643,162 (GRCm39)	N353K	probably damaging	Het
Vmn1r40	A	G	6: 89,691,558 (GRCm39)	K125R	probably damaging	Het
Vmn2r1	A	G	3: 64,008,734 (GRCm39)	Y471C	probably damaging	Het
Vmn2r13	A	G	5: 109,322,001 (GRCm39)	I232T	probably damaging	Het
Zfp263	A	C	16: 3,564,323 (GRCm39)	E204D	probably benign	Het
Zfp865	A	T	7: 5,032,278 (GRCm39)	K88*	probably null	Het

Other mutations in Shf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02726:Shf	APN	2	122,189,969 (GRCm39)	missense	probably damaging	1.00
FR4589:Shf	UTSW	2	122,184,658 (GRCm39)	small insertion	probably benign
R0624:Shf	UTSW	2	122,199,116 (GRCm39)	splice site	probably benign
R0993:Shf	UTSW	2	122,199,163 (GRCm39)	missense	probably damaging	0.96
R1180:Shf	UTSW	2	122,199,163 (GRCm39)	missense	probably damaging	0.96
R1181:Shf	UTSW	2	122,199,163 (GRCm39)	missense	probably damaging	0.96
R1193:Shf	UTSW	2	122,199,163 (GRCm39)	missense	probably damaging	0.96
R1194:Shf	UTSW	2	122,199,163 (GRCm39)	missense	probably damaging	0.96
R1195:Shf	UTSW	2	122,199,163 (GRCm39)	missense	probably damaging	0.96
R1195:Shf	UTSW	2	122,199,163 (GRCm39)	missense	probably damaging	0.96
R1257:Shf	UTSW	2	122,199,163 (GRCm39)	missense	probably damaging	0.96
R1258:Shf	UTSW	2	122,199,163 (GRCm39)	missense	probably damaging	0.96
R1260:Shf	UTSW	2	122,199,163 (GRCm39)	missense	probably damaging	0.96
R1267:Shf	UTSW	2	122,199,163 (GRCm39)	missense	probably damaging	0.96
R1268:Shf	UTSW	2	122,199,163 (GRCm39)	missense	probably damaging	0.96
R1269:Shf	UTSW	2	122,199,163 (GRCm39)	missense	probably damaging	0.96
R1270:Shf	UTSW	2	122,199,163 (GRCm39)	missense	probably damaging	0.96
R1271:Shf	UTSW	2	122,199,163 (GRCm39)	missense	probably damaging	0.96
R1273:Shf	UTSW	2	122,199,163 (GRCm39)	missense	probably damaging	0.96
R1388:Shf	UTSW	2	122,199,163 (GRCm39)	missense	probably damaging	0.96
R1494:Shf	UTSW	2	122,199,163 (GRCm39)	missense	probably damaging	0.96
R1615:Shf	UTSW	2	122,179,913 (GRCm39)	missense	probably damaging	1.00
R1697:Shf	UTSW	2	122,199,163 (GRCm39)	missense	probably damaging	0.96
R1756:Shf	UTSW	2	122,199,163 (GRCm39)	missense	probably damaging	0.96
R1820:Shf	UTSW	2	122,199,163 (GRCm39)	missense	probably damaging	0.96
R1950:Shf	UTSW	2	122,199,163 (GRCm39)	missense	probably damaging	0.96
R3732:Shf	UTSW	2	122,175,688 (GRCm39)	unclassified	probably benign
R6794:Shf	UTSW	2	122,184,321 (GRCm39)	missense	probably damaging	1.00
R7414:Shf	UTSW	2	122,190,063 (GRCm39)	missense	possibly damaging	0.50
R8230:Shf	UTSW	2	122,179,968 (GRCm39)	missense	probably damaging	1.00
R8970:Shf	UTSW	2	122,187,654 (GRCm39)	missense	probably benign	0.01
R8997:Shf	UTSW	2	122,187,728 (GRCm39)	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

2014-03-14