Mutagenetix > Incidental Mutation

Incidental Mutation 'R1998:Sh3rf2'

224656

Institutional Source

Beutler Lab

Gene Symbol

Sh3rf2

Ensembl Gene

ENSMUSG00000057719

Gene Name

SH3 domain containing ring finger 2

Synonyms

9130023G24Rik, RNF158

MMRRC Submission

040008-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1998 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

42186732-42292025 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 42274148 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 406 (V406D)

Ref Sequence

ENSEMBL: ENSMUSP00000074247 (fasta)

Gene Model

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

AlphaFold

Q8BZT2

Predicted Effect

probably damaging
Transcript: ENSMUST00000072008
AA Change: V438D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071896
Gene: ENSMUSG00000057719
AA Change: V438D

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 damaging
Transcript: ENSMUST00000074679
AA Change: V406D

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074247
Gene: ENSMUSG00000057719
AA Change: V406D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128066

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132681

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	G	5: 88,118,553 (GRCm39)	N12K	probably damaging	Het
2700049A03Rik	T	A	12: 71,235,393 (GRCm39)	S1114R	possibly damaging	Het
Acot1	T	A	12: 84,056,527 (GRCm39)	W82R	probably damaging	Het
Adam22	T	C	5: 8,379,995 (GRCm39)	D101G	probably damaging	Het
Adcy9	T	C	16: 4,115,276 (GRCm39)	D705G	probably benign	Het
Adgrg3	T	G	8: 95,763,296 (GRCm39)	L244V	probably damaging	Het
Amh	AGCGCCTTGG	AG	10: 80,641,419 (GRCm39)		probably null	Het
Brinp1	C	T	4: 68,680,790 (GRCm39)	G580E	probably damaging	Het
Brwd1	G	A	16: 95,822,488 (GRCm39)	T1239M	probably damaging	Het
Camk1d	A	T	2: 5,366,836 (GRCm39)	Y126*	probably null	Het
Camta1	T	C	4: 151,162,337 (GRCm39)	Y1560C	probably damaging	Het
Cbfa2t2	T	A	2: 154,346,709 (GRCm39)	L139M	probably damaging	Het
Cd226	T	C	18: 89,225,343 (GRCm39)	V80A	probably damaging	Het
Dgka	C	T	10: 128,565,808 (GRCm39)	V367I	probably benign	Het
Dnajb13	A	T	7: 100,153,817 (GRCm39)	I206N	probably benign	Het
Dst	A	T	1: 34,295,428 (GRCm39)	Q5693L	probably damaging	Het
Ear6	T	A	14: 52,091,672 (GRCm39)	I73N	probably benign	Het
Egr1	A	G	18: 34,994,587 (GRCm39)	I16V	probably benign	Het
Eif2s1	T	A	12: 78,913,508 (GRCm39)	C70S	possibly damaging	Het
Epcam	T	C	17: 87,947,902 (GRCm39)	V124A	probably damaging	Het
Erbb2	T	A	11: 98,319,779 (GRCm39)	C624S	probably damaging	Het
Fam135b	T	A	15: 71,324,253 (GRCm39)	H1238L	probably damaging	Het
Fam90a1a	A	G	8: 22,453,713 (GRCm39)	D356G	probably benign	Het
Fbrsl1	G	A	5: 110,524,305 (GRCm39)	S127L	probably benign	Het
Fndc3c1	C	T	X: 105,464,311 (GRCm39)	E1276K	probably benign	Het
Gbe1	A	T	16: 70,365,929 (GRCm39)	N702I	probably damaging	Het
Gm10643	A	T	8: 84,791,053 (GRCm39)	C20*	probably null	Het
Gpr156	A	G	16: 37,818,270 (GRCm39)	N322S	possibly damaging	Het
Gsdma	T	A	11: 98,564,520 (GRCm39)	I333N	probably damaging	Het
Gstm1	A	G	3: 107,922,127 (GRCm39)	F170S	probably damaging	Het
Hgsnat	C	T	8: 26,435,280 (GRCm39)	W618*	probably null	Het
Htr5a	G	A	5: 28,055,887 (GRCm39)	V293M	possibly damaging	Het
Hyal4	A	G	6: 24,756,310 (GRCm39)	E176G	probably benign	Het
Iqca1l	G	A	5: 24,750,004 (GRCm39)	R680C	probably benign	Het
Jag1	T	C	2: 136,932,858 (GRCm39)	D546G	probably damaging	Het
Kbtbd3	A	G	9: 4,330,760 (GRCm39)	E378G	probably benign	Het
Lipo4	A	G	19: 33,491,701 (GRCm39)	V94A	probably damaging	Het
Magea10	A	T	X: 71,426,379 (GRCm39)	I205K	probably benign	Het
Manea	A	G	4: 26,327,871 (GRCm39)	L390P	probably damaging	Het
Mars1	T	A	10: 127,136,347 (GRCm39)	K493*	probably null	Het
Mars1	T	C	10: 127,138,740 (GRCm39)	I439V	probably benign	Het
Mboat2	A	G	12: 24,996,672 (GRCm39)	D225G	possibly damaging	Het
Mcmbp	T	A	7: 128,310,887 (GRCm39)	E350V	probably damaging	Het
Mki67	A	G	7: 135,307,499 (GRCm39)	M459T	probably benign	Het
Mlf1	G	A	3: 67,302,624 (GRCm39)	G150R	probably damaging	Het
Mtmr14	A	G	6: 113,254,885 (GRCm39)	D294G	probably null	Het
Nlrp4e	A	C	7: 23,020,671 (GRCm39)	Y386S	probably benign	Het
Nomo1	A	G	7: 45,683,368 (GRCm39)	D38G	possibly damaging	Het
Nudcd2	T	C	11: 40,624,844 (GRCm39)	W18R	probably damaging	Het
Or11g26	T	A	14: 50,752,813 (GRCm39)	C51S	probably benign	Het
Or3a1b	A	G	11: 74,012,406 (GRCm39)	Y97C	probably benign	Het
Or52e4	G	T	7: 104,706,112 (GRCm39)	V220L	probably benign	Het
Or5d16	G	A	2: 87,773,490 (GRCm39)	L161F	probably benign	Het
Or5w16	T	C	2: 87,577,316 (GRCm39)	Y259H	probably damaging	Het
Pcnx2	A	T	8: 126,613,882 (GRCm39)	V523D	probably damaging	Het
Pkd1	T	C	17: 24,791,988 (GRCm39)	V1225A	probably damaging	Het
Plekhh2	T	A	17: 84,914,305 (GRCm39)	L1236Q	possibly damaging	Het
Ppp2r1b	A	G	9: 50,794,885 (GRCm39)	D570G	probably damaging	Het
Prrc2c	T	A	1: 162,532,487 (GRCm39)		probably benign	Het
Rai14	C	T	15: 10,595,067 (GRCm39)		probably null	Het
Rap1gap2	A	G	11: 74,286,659 (GRCm39)	L547P	probably benign	Het
Rims3	A	T	4: 120,748,555 (GRCm39)	M259L	probably benign	Het
Rsbn1l	G	A	5: 21,107,368 (GRCm39)	H549Y	probably damaging	Het
Sart3	A	C	5: 113,885,982 (GRCm39)		probably null	Het
Scn7a	C	A	2: 66,513,613 (GRCm39)	G1156C	probably damaging	Het
Slitrk6	T	C	14: 110,989,255 (GRCm39)	I151V	probably damaging	Het
Smarca2	A	T	19: 26,608,493 (GRCm39)	Q260L	probably benign	Het
Smco1	A	G	16: 32,092,658 (GRCm39)	R110G	probably damaging	Het
Spef2	T	A	15: 9,668,989 (GRCm39)		probably null	Het
Stab1	T	A	14: 30,884,110 (GRCm39)	K219*	probably null	Het
Sulf1	G	T	1: 12,929,058 (GRCm39)	E869*	probably null	Het
Susd1	T	C	4: 59,349,925 (GRCm39)	I504V	probably benign	Het
Szt2	A	G	4: 118,232,924 (GRCm39)		probably null	Het
Tas1r3	A	T	4: 155,947,377 (GRCm39)	C103S	probably damaging	Het
Thg1l	C	A	11: 45,841,030 (GRCm39)	W243L	possibly damaging	Het
Tlr4	A	T	4: 66,758,707 (GRCm39)	D500V	probably damaging	Het
Tmem72	A	G	6: 116,693,525 (GRCm39)	V5A	probably benign	Het
Tns4	T	G	11: 98,976,529 (GRCm39)	M131L	probably benign	Het
Trim66	C	T	7: 109,083,784 (GRCm39)		probably null	Het
Ttll6	T	A	11: 96,030,601 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,800,047 (GRCm39)	I387N	probably damaging	Het
Ubqln5	T	A	7: 103,777,948 (GRCm39)	Q292L	probably damaging	Het
Vmn1r74	G	T	7: 11,581,302 (GRCm39)	V201F	probably damaging	Het
Vmn2r28	G	T	7: 5,491,313 (GRCm39)	D311E	possibly damaging	Het
Vtn	T	A	11: 78,390,542 (GRCm39)	V67E	probably damaging	Het
Xirp2	T	A	2: 67,339,393 (GRCm39)	F545I	probably damaging	Het

Other mutations in Sh3rf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00977:Sh3rf2	APN	18	42,244,283 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- ACCAGATCCTTGTGTTTCTAGG -3'
(R):5'- TACATGCCAGGCTCTTCAGC -3'

Sequencing Primer
(F):5'- AGGTTTGTAGCCCTACACAC -3'
(R):5'- CTTCAGCATGGCCAGGGTATTAAATG -3'

Posted On

2014-08-25