Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4445001:Sh3rf2'

555440

Institutional Source

Beutler Lab

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 #

PIT4445001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42053667-42158960 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 42153164 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 574 (V574A)

Ref Sequence

ENSEMBL: ENSMUSP00000071896 (fasta)

Gene Model

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

AlphaFold

Q8BZT2

PDB Structure

Solution structure of the SH3 domain of the mouse hypothetical protein SH3RF2 [SOLUTION NMR]
The solution structure of the first SH3 domain of mouse SH3 domain containing ring finger 2 [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000072008
AA Change: V574A

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

SMART Domains

Protein: ENSMUSP00000071896
Gene: ENSMUSG00000057719
AA Change: V574A

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: V542A

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

SMART Domains

Protein: ENSMUSP00000074247
Gene: ENSMUSG00000057719
AA Change: V542A

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

1x: 93.5%
3x: 90.8%
10x: 84.5%
20x: 70.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	T	C	11: 110,075,551	K419E	probably damaging	Het
Adam7	T	A	14: 68,509,748	K587N	possibly damaging	Het
Agl	T	C	3: 116,771,460	M382V		Het
Agpat3	A	T	10: 78,274,093	F341I	possibly damaging	Het
Ampd2	A	T	3: 108,075,012	L767Q	probably damaging	Het
Arhgap28	A	T	17: 67,896,235	D124E	possibly damaging	Het
Arhgap32	T	C	9: 32,260,856	L1644P	probably damaging	Het
Asic4	T	C	1: 75,451,127	V99A	probably benign	Het
Asns	T	A	6: 7,689,277	N75I	probably damaging	Het
Atp10a	A	G	7: 58,803,467	D798G	probably damaging	Het
Atp8a1	A	G	5: 67,622,660	V1145A		Het
BC017158	A	G	7: 128,276,534	V243A	probably benign	Het
Ccdc171	A	G	4: 83,661,747	Q577R	probably damaging	Het
Cd247	T	A	1: 165,861,036	D154E	probably damaging	Het
Ceacam1	A	T	7: 25,476,456	N104K	probably damaging	Het
Chfr	A	G	5: 110,151,677	D312G	possibly damaging	Het
Ddb1	C	A	19: 10,625,970	L881I	probably damaging	Het
Dgkh	A	T	14: 78,575,942	I1032N	possibly damaging	Het
Efcab6	A	T	15: 83,904,267	V942D	probably benign	Het
Fmo5	A	G	3: 97,651,528	T435A	probably benign	Het
Fpr1	T	C	17: 17,876,893	Q278R	probably benign	Het
Fzr1	C	T	10: 81,369,394	W256*	probably null	Het
Gabrb1	T	C	5: 72,108,782	S261P	probably damaging	Het
Galr2	G	T	11: 116,281,648	A55S	probably benign	Het
Gbp2	A	T	3: 142,637,466	K581N	probably benign	Het
Gm7682	T	G	5: 94,448,507	W468G	probably benign	Het
Gria1	A	T	11: 57,185,838	Y89F	probably damaging	Het
Ibsp	T	A	5: 104,302,304	I26N	possibly damaging	Het
Igf1r	T	C	7: 68,207,463	F1058L	probably damaging	Het
Ighv1-16	A	C	12: 114,666,060	C36G	probably benign	Het
Igll1	T	C	16: 16,860,919	T176A	probably benign	Het
Ilkap	T	C	1: 91,385,345	T143A	probably benign	Het
Kdm3b	A	T	18: 34,793,115	K103*	probably null	Het
Mphosph9	A	G	5: 124,298,790	I497T	possibly damaging	Het
Mrgpra3	G	A	7: 47,590,160	T6I	possibly damaging	Het
Mrpl38	T	C	11: 116,132,558		probably null	Het
Myo3a	A	T	2: 22,542,415	E813V	possibly damaging	Het
Myo7b	G	T	18: 31,959,466	Q2093K	possibly damaging	Het
Myo7b	T	C	18: 31,962,352	K1851R	probably damaging	Het
P3h2	T	A	16: 25,984,999	D339V	probably benign	Het
Pcdhb6	C	A	18: 37,335,247	P407Q	possibly damaging	Het
Plch2	C	A	4: 155,009,026	R153L	probably damaging	Het
Plppr4	G	A	3: 117,360,308		probably benign	Het
Ppp1r3a	A	G	6: 14,717,777	F1046S	probably damaging	Het
Prkacb	A	T	3: 146,755,691	L107M	probably benign	Het
Ranbp17	A	G	11: 33,481,020		probably null	Het
Rasl11b	C	A	5: 74,197,333	P88Q	probably damaging	Het
Rcc2	A	G	4: 140,721,149	E503G	possibly damaging	Het
Rnf216	T	A	5: 143,086,003	K407N	probably damaging	Het
Scrn3	G	A	2: 73,318,329	M81I	possibly damaging	Het
Scube2	T	C	7: 109,809,180	T687A	probably benign	Het
Serpinb10	T	A	1: 107,535,998	F3L	probably benign	Het
Sgcb	C	T	5: 73,639,812	V202I	probably damaging	Het
Sgce	A	G	6: 4,689,654	V429A	possibly damaging	Het
Sncaip	T	C	18: 52,868,944	L179S	probably damaging	Het
Sntg2	A	T	12: 30,312,572	D58E	probably damaging	Het
Taar3	T	C	10: 23,949,688	I44T	possibly damaging	Het
Tmem87b	G	A	2: 128,831,471	V227I	probably benign	Het
Tnfsf9	T	C	17: 57,105,517	L29P	possibly damaging	Het
Tnip2	T	C	5: 34,496,871	H391R	probably benign	Het
Traf5	A	G	1: 191,997,807	Y125H		Het
Ttc23	T	G	7: 67,667,213	I77M	probably damaging	Het
Ube2l3	T	C	16: 17,160,172	N43S	probably benign	Het
Vars2	A	T	17: 35,666,211	C142*	probably null	Het
Vmn2r15	A	C	5: 109,287,142	D565E	probably damaging	Het
Vmn2r56	C	T	7: 12,715,226		probably null	Het
Vmn2r79	A	T	7: 87,002,200	D269V	possibly damaging	Het
Vmn2r85	A	T	10: 130,425,703	M255K	probably benign	Het
Wfdc6a	T	A	2: 164,579,826	*137C	probably null	Het
Wipi2	T	C	5: 142,666,884	V417A	probably benign	Het
Xirp2	G	T	2: 67,509,772	V786L	possibly damaging	Het
Zdhhc13	G	A	7: 48,795,949	G26S	probably benign	Het
Zscan25	T	A	5: 145,290,612	V362D	probably damaging	Het

Other mutations in Sh3rf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00977:Sh3rf2	APN	18	42,111,218 (GRCm38)	missense	probably benign	0.00
IGL01012:Sh3rf2	APN	18	42,054,192 (GRCm38)	missense	possibly damaging	0.50
IGL01286:Sh3rf2	APN	18	42,139,611 (GRCm38)	critical splice donor site	probably null
IGL02369:Sh3rf2	APN	18	42,156,157 (GRCm38)	nonsense	probably null
IGL02563:Sh3rf2	APN	18	42,156,142 (GRCm38)	missense	probably damaging	0.99
BB004:Sh3rf2	UTSW	18	42,111,422 (GRCm38)	missense	probably benign
BB014:Sh3rf2	UTSW	18	42,111,422 (GRCm38)	missense	probably benign
R0141:Sh3rf2	UTSW	18	42,156,057 (GRCm38)	missense	probably benign	0.02
R0270:Sh3rf2	UTSW	18	42,104,081 (GRCm38)	missense	probably damaging	0.99
R1447:Sh3rf2	UTSW	18	42,101,671 (GRCm38)	missense	probably benign	0.00
R1491:Sh3rf2	UTSW	18	42,053,939 (GRCm38)	missense	probably damaging	0.99
R1539:Sh3rf2	UTSW	18	42,149,822 (GRCm38)	missense	probably damaging	1.00
R1595:Sh3rf2	UTSW	18	42,111,288 (GRCm38)	missense	probably damaging	1.00
R1749:Sh3rf2	UTSW	18	42,153,294 (GRCm38)	missense	probably damaging	1.00
R1864:Sh3rf2	UTSW	18	42,053,981 (GRCm38)	missense	probably damaging	0.99
R1942:Sh3rf2	UTSW	18	42,149,624 (GRCm38)	missense	probably damaging	1.00
R1998:Sh3rf2	UTSW	18	42,141,083 (GRCm38)	missense	probably damaging	0.99
R2331:Sh3rf2	UTSW	18	42,053,863 (GRCm38)	missense	probably benign	0.04
R2680:Sh3rf2	UTSW	18	42,101,650 (GRCm38)	missense	probably damaging	0.98
R2938:Sh3rf2	UTSW	18	42,149,724 (GRCm38)	missense	probably benign	0.09
R2940:Sh3rf2	UTSW	18	42,111,440 (GRCm38)	critical splice donor site	probably null
R3753:Sh3rf2	UTSW	18	42,111,308 (GRCm38)	missense	probably damaging	1.00
R3861:Sh3rf2	UTSW	18	42,153,319 (GRCm38)	missense	probably damaging	1.00
R4322:Sh3rf2	UTSW	18	42,111,399 (GRCm38)	missense	probably damaging	1.00
R5076:Sh3rf2	UTSW	18	42,053,924 (GRCm38)	missense	probably damaging	1.00
R5169:Sh3rf2	UTSW	18	42,153,061 (GRCm38)	missense	probably benign	0.00
R5228:Sh3rf2	UTSW	18	42,153,181 (GRCm38)	missense	possibly damaging	0.69
R5437:Sh3rf2	UTSW	18	42,141,014 (GRCm38)	missense	probably benign	0.44
R5792:Sh3rf2	UTSW	18	42,111,138 (GRCm38)	missense	probably damaging	0.99
R5820:Sh3rf2	UTSW	18	42,141,047 (GRCm38)	missense	possibly damaging	0.94
R6159:Sh3rf2	UTSW	18	42,156,135 (GRCm38)	missense	probably damaging	0.96
R6366:Sh3rf2	UTSW	18	42,153,065 (GRCm38)	missense	probably benign	0.00
R6640:Sh3rf2	UTSW	18	42,101,640 (GRCm38)	missense	probably damaging	1.00
R6897:Sh3rf2	UTSW	18	42,101,605 (GRCm38)	missense	possibly damaging	0.91
R6995:Sh3rf2	UTSW	18	42,101,541 (GRCm38)	missense	probably damaging	1.00
R7097:Sh3rf2	UTSW	18	42,104,162 (GRCm38)	splice site	probably null
R7122:Sh3rf2	UTSW	18	42,104,162 (GRCm38)	splice site	probably null
R7432:Sh3rf2	UTSW	18	42,054,026 (GRCm38)	missense	probably damaging	0.99
R7444:Sh3rf2	UTSW	18	42,101,539 (GRCm38)	missense	probably damaging	1.00
R7654:Sh3rf2	UTSW	18	42,104,108 (GRCm38)	missense	probably damaging	1.00
R7703:Sh3rf2	UTSW	18	42,156,136 (GRCm38)	missense	probably benign	0.04
R7732:Sh3rf2	UTSW	18	42,101,688 (GRCm38)	missense	probably damaging	1.00
R7835:Sh3rf2	UTSW	18	42,111,170 (GRCm38)	missense	probably benign	0.25
R7927:Sh3rf2	UTSW	18	42,111,422 (GRCm38)	missense	probably benign
R8053:Sh3rf2	UTSW	18	42,153,022 (GRCm38)	missense	probably damaging	1.00
R8144:Sh3rf2	UTSW	18	42,141,059 (GRCm38)	missense	probably benign	0.01
R8343:Sh3rf2	UTSW	18	42,111,428 (GRCm38)	missense	probably damaging	0.99
R9145:Sh3rf2	UTSW	18	42,149,681 (GRCm38)	missense
R9328:Sh3rf2	UTSW	18	42,141,096 (GRCm38)	missense	probably benign	0.08
R9570:Sh3rf2	UTSW	18	42,139,555 (GRCm38)	missense	possibly damaging	0.75
R9668:Sh3rf2	UTSW	18	42,111,282 (GRCm38)	missense	probably benign	0.31
R9676:Sh3rf2	UTSW	18	42,149,795 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGACACATTGCAACCTACATGC -3'
(R):5'- CTGGTTTCACGAGGATGGAG -3'

Sequencing Primer
(F):5'- AATGATGTCATCTACCCTATTGCTG -3'
(R):5'- TTCACGAGGATGGAGGGTGG -3'

Posted On

2019-06-07