Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00977:Sh3rf2'

29463

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sh3rf2

Ensembl Gene

ENSMUSG00000057719

Gene Name

SH3 domain containing ring finger 2

Synonyms

9130023G24Rik, RNF158

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00977

Quality Score

Status

Chromosome

Chromosomal Location

42186732-42292025 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 42244283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 250 (T250A)

Ref Sequence

ENSEMBL: ENSMUSP00000074247 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072008] [ENSMUST00000074679]

AlphaFold

Q8BZT2

Predicted Effect

probably benign
Transcript: ENSMUST00000072008
AA Change: T282A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000071896
Gene: ENSMUSG00000057719
AA Change: T282A

Domain	Start	End	E-Value	Type
RING	12	52	7.38e-8	SMART
low complexity region	63	73	N/A	INTRINSIC
SH3	128	183	4.66e-17	SMART
SH3	190	251	1.45e-13	SMART
low complexity region	357	366	N/A	INTRINSIC
SH3	385	442	3.27e-12	SMART
low complexity region	500	514	N/A	INTRINSIC
low complexity region	614	631	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000074679
AA Change: T250A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000074247
Gene: ENSMUSG00000057719
AA Change: T250A

Domain	Start	End	E-Value	Type
RING	12	52	7.38e-8	SMART
low complexity region	63	73	N/A	INTRINSIC
SH3	128	183	4.66e-17	SMART
low complexity region	325	334	N/A	INTRINSIC
SH3	353	410	3.27e-12	SMART
low complexity region	468	482	N/A	INTRINSIC
low complexity region	582	599	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,349,284 (GRCm39)	F3619L	probably damaging	Het
Asic5	T	A	3: 81,911,953 (GRCm39)	V183E	possibly damaging	Het
Atp2b1	T	C	10: 98,822,837 (GRCm39)	V164A	possibly damaging	Het
Bend3	A	G	10: 43,386,945 (GRCm39)	Q446R	possibly damaging	Het
Ccdc80	C	A	16: 44,916,627 (GRCm39)	T461K	probably benign	Het
Cep350	T	A	1: 155,808,611 (GRCm39)	E655V	probably null	Het
Chi3l1	T	C	1: 134,115,711 (GRCm39)	F232L	possibly damaging	Het
Degs1	T	A	1: 182,106,774 (GRCm39)	I162F	probably benign	Het
Dhdds	A	T	4: 133,727,571 (GRCm39)		probably benign	Het
Herc4	A	T	10: 63,147,346 (GRCm39)	Y821F	probably damaging	Het
Hpf1	A	G	8: 61,358,753 (GRCm39)	H303R	probably benign	Het
Kcnk10	A	T	12: 98,484,792 (GRCm39)	C115S	probably damaging	Het
Map3k13	T	C	16: 21,740,514 (GRCm39)	S614P	probably benign	Het
Me2	A	T	18: 73,924,248 (GRCm39)	N321K	probably benign	Het
Med16	A	T	10: 79,743,459 (GRCm39)	M1K	probably null	Het
Mycbp2	A	G	14: 103,410,078 (GRCm39)	F2651L	probably damaging	Het
Prrc2b	C	T	2: 32,103,822 (GRCm39)	T1100I	probably benign	Het
Scn9a	T	A	2: 66,314,645 (GRCm39)	Q1680L	probably damaging	Het
Sting1	C	T	18: 35,867,620 (GRCm39)	E359K	probably damaging	Het
Tpp2	T	C	1: 44,022,451 (GRCm39)	F950L	possibly damaging	Het
Vmn2r129	C	A	4: 156,686,491 (GRCm39)		noncoding transcript	Het

Other mutations in Sh3rf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Sh3rf2	APN	18	42,187,257 (GRCm39)	missense	possibly damaging	0.50
IGL01286:Sh3rf2	APN	18	42,272,676 (GRCm39)	critical splice donor site	probably null
IGL02369:Sh3rf2	APN	18	42,289,222 (GRCm39)	nonsense	probably null
IGL02563:Sh3rf2	APN	18	42,289,207 (GRCm39)	missense	probably damaging	0.99
BB004:Sh3rf2	UTSW	18	42,244,487 (GRCm39)	missense	probably benign
BB014:Sh3rf2	UTSW	18	42,244,487 (GRCm39)	missense	probably benign
PIT4445001:Sh3rf2	UTSW	18	42,286,229 (GRCm39)	missense	probably benign	0.00
R0141:Sh3rf2	UTSW	18	42,289,122 (GRCm39)	missense	probably benign	0.02
R0270:Sh3rf2	UTSW	18	42,237,146 (GRCm39)	missense	probably damaging	0.99
R1447:Sh3rf2	UTSW	18	42,234,736 (GRCm39)	missense	probably benign	0.00
R1491:Sh3rf2	UTSW	18	42,187,004 (GRCm39)	missense	probably damaging	0.99
R1539:Sh3rf2	UTSW	18	42,282,887 (GRCm39)	missense	probably damaging	1.00
R1595:Sh3rf2	UTSW	18	42,244,353 (GRCm39)	missense	probably damaging	1.00
R1749:Sh3rf2	UTSW	18	42,286,359 (GRCm39)	missense	probably damaging	1.00
R1864:Sh3rf2	UTSW	18	42,187,046 (GRCm39)	missense	probably damaging	0.99
R1942:Sh3rf2	UTSW	18	42,282,689 (GRCm39)	missense	probably damaging	1.00
R1998:Sh3rf2	UTSW	18	42,274,148 (GRCm39)	missense	probably damaging	0.99
R2331:Sh3rf2	UTSW	18	42,186,928 (GRCm39)	missense	probably benign	0.04
R2680:Sh3rf2	UTSW	18	42,234,715 (GRCm39)	missense	probably damaging	0.98
R2938:Sh3rf2	UTSW	18	42,282,789 (GRCm39)	missense	probably benign	0.09
R2940:Sh3rf2	UTSW	18	42,244,505 (GRCm39)	critical splice donor site	probably null
R3753:Sh3rf2	UTSW	18	42,244,373 (GRCm39)	missense	probably damaging	1.00
R3861:Sh3rf2	UTSW	18	42,286,384 (GRCm39)	missense	probably damaging	1.00
R4322:Sh3rf2	UTSW	18	42,244,464 (GRCm39)	missense	probably damaging	1.00
R5076:Sh3rf2	UTSW	18	42,186,989 (GRCm39)	missense	probably damaging	1.00
R5169:Sh3rf2	UTSW	18	42,286,126 (GRCm39)	missense	probably benign	0.00
R5228:Sh3rf2	UTSW	18	42,286,246 (GRCm39)	missense	possibly damaging	0.69
R5437:Sh3rf2	UTSW	18	42,274,079 (GRCm39)	missense	probably benign	0.44
R5792:Sh3rf2	UTSW	18	42,244,203 (GRCm39)	missense	probably damaging	0.99
R5820:Sh3rf2	UTSW	18	42,274,112 (GRCm39)	missense	possibly damaging	0.94
R6159:Sh3rf2	UTSW	18	42,289,200 (GRCm39)	missense	probably damaging	0.96
R6366:Sh3rf2	UTSW	18	42,286,130 (GRCm39)	missense	probably benign	0.00
R6640:Sh3rf2	UTSW	18	42,234,705 (GRCm39)	missense	probably damaging	1.00
R6897:Sh3rf2	UTSW	18	42,234,670 (GRCm39)	missense	possibly damaging	0.91
R6995:Sh3rf2	UTSW	18	42,234,606 (GRCm39)	missense	probably damaging	1.00
R7097:Sh3rf2	UTSW	18	42,237,227 (GRCm39)	splice site	probably null
R7122:Sh3rf2	UTSW	18	42,237,227 (GRCm39)	splice site	probably null
R7432:Sh3rf2	UTSW	18	42,187,091 (GRCm39)	missense	probably damaging	0.99
R7444:Sh3rf2	UTSW	18	42,234,604 (GRCm39)	missense	probably damaging	1.00
R7654:Sh3rf2	UTSW	18	42,237,173 (GRCm39)	missense	probably damaging	1.00
R7703:Sh3rf2	UTSW	18	42,289,201 (GRCm39)	missense	probably benign	0.04
R7732:Sh3rf2	UTSW	18	42,234,753 (GRCm39)	missense	probably damaging	1.00
R7835:Sh3rf2	UTSW	18	42,244,235 (GRCm39)	missense	probably benign	0.25
R7927:Sh3rf2	UTSW	18	42,244,487 (GRCm39)	missense	probably benign
R8053:Sh3rf2	UTSW	18	42,286,087 (GRCm39)	missense	probably damaging	1.00
R8144:Sh3rf2	UTSW	18	42,274,124 (GRCm39)	missense	probably benign	0.01
R8343:Sh3rf2	UTSW	18	42,244,493 (GRCm39)	missense	probably damaging	0.99
R9145:Sh3rf2	UTSW	18	42,282,746 (GRCm39)	missense
R9328:Sh3rf2	UTSW	18	42,274,161 (GRCm39)	missense	probably benign	0.08
R9570:Sh3rf2	UTSW	18	42,272,620 (GRCm39)	missense	possibly damaging	0.75
R9668:Sh3rf2	UTSW	18	42,244,347 (GRCm39)	missense	probably benign	0.31
R9676:Sh3rf2	UTSW	18	42,282,860 (GRCm39)	missense	probably benign

Posted On

2013-04-17