Mutagenetix > Incidental Mutation

Incidental Mutation 'R1797:Sh3rf3'

202384

Institutional Source

Beutler Lab

Gene Symbol

Sh3rf3

Ensembl Gene

ENSMUSG00000037990

Gene Name

SH3 domain containing ring finger 3

Synonyms

Sh3md4, 4831416G18Rik

MMRRC Submission

039827-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R1797 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58649181-58974738 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 58922489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 522 (G522*)

Ref Sequence

ENSEMBL: ENSMUSP00000120938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000153031]

AlphaFold

Q8C120

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148267

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152924

Predicted Effect

probably null
Transcript: ENSMUST00000153031
AA Change: G522*

SMART Domains

Protein: ENSMUSP00000120938
Gene: ENSMUSG00000037990
AA Change: G522*

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
RING	52	92	2.76e-7	SMART
low complexity region	119	152	N/A	INTRINSIC
low complexity region	161	170	N/A	INTRINSIC
SH3	190	245	8.24e-18	SMART
SH3	252	311	5.56e-15	SMART
SH3	461	518	1.43e-17	SMART
low complexity region	707	739	N/A	INTRINSIC
SH3	822	878	5.19e-15	SMART

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,089,285 (GRCm39)	K200E	possibly damaging	Het
Abcc2	A	G	19: 43,803,225 (GRCm39)	E687G	possibly damaging	Het
Abcc2	A	T	19: 43,822,426 (GRCm39)	Q1421H	probably damaging	Het
Abcg3	C	T	5: 105,087,030 (GRCm39)	S534N	possibly damaging	Het
Acp1	A	G	12: 30,946,113 (GRCm39)		probably null	Het
Adam12	C	A	7: 133,569,590 (GRCm39)	R295L	probably benign	Het
Albfm1	A	T	5: 90,727,460 (GRCm39)	E359D	probably damaging	Het
Alg1	C	A	16: 5,057,007 (GRCm39)	H213Q	probably benign	Het
Ap4b1	T	A	3: 103,726,149 (GRCm39)	W410R	possibly damaging	Het
As3mt	A	G	19: 46,713,373 (GRCm39)	T307A	possibly damaging	Het
Cdc14a	T	C	3: 116,115,843 (GRCm39)	I289V	probably damaging	Het
Cdk17	A	G	10: 93,044,114 (GRCm39)	I18V	possibly damaging	Het
Cep131	C	T	11: 119,964,562 (GRCm39)		probably null	Het
Clca3a2	A	G	3: 144,503,398 (GRCm39)	Y851H	probably benign	Het
Cnih2	T	C	19: 5,144,314 (GRCm39)	K66E	probably benign	Het
Cpsf3	T	A	12: 21,356,851 (GRCm39)	N491K	probably benign	Het
Cux1	C	T	5: 136,304,169 (GRCm39)	E1253K	probably benign	Het
Dcc	A	C	18: 71,500,232 (GRCm39)	L1005R	probably damaging	Het
Ddx19b	A	T	8: 111,739,439 (GRCm39)	M200K	probably damaging	Het
Ech1	A	G	7: 28,531,288 (GRCm39)	Y292C	probably damaging	Het
Edc4	G	T	8: 106,617,717 (GRCm39)	A1121S	probably benign	Het
Eml6	T	A	11: 29,832,041 (GRCm39)	I210F	probably benign	Het
Fam135b	T	C	15: 71,324,290 (GRCm39)	T1226A	probably benign	Het
Flg2	C	T	3: 93,108,283 (GRCm39)	R104C	probably damaging	Het
Frzb	T	C	2: 80,276,872 (GRCm39)	I105V	possibly damaging	Het
Gli3	A	G	13: 15,888,097 (GRCm39)	D504G	probably damaging	Het
Gm42669	A	T	5: 107,655,683 (GRCm39)	K1161*	probably null	Het
Gm6665	T	C	18: 31,953,186 (GRCm39)	E63G	possibly damaging	Het
Gm9923	T	C	10: 72,145,593 (GRCm39)	V148A	probably benign	Het
Hoxc5	T	C	15: 102,922,866 (GRCm39)	I118T	probably benign	Het
Hsp90b1	A	G	10: 86,537,609 (GRCm39)	V232A	possibly damaging	Het
Impdh1	T	A	6: 29,207,168 (GRCm39)	I59F	probably damaging	Het
Iqch	G	A	9: 63,495,659 (GRCm39)	P111S	possibly damaging	Het
Itih1	G	T	14: 30,651,856 (GRCm39)	Q829K	probably damaging	Het
Kcnh2	C	T	5: 24,527,670 (GRCm39)	R894H	probably damaging	Het
Kmt5b	G	T	19: 3,864,833 (GRCm39)	E632D	probably benign	Het
L2hgdh	C	T	12: 69,746,340 (GRCm39)	M373I	probably benign	Het
Map3k4	C	T	17: 12,482,906 (GRCm39)	E604K	probably benign	Het
Mok	T	A	12: 110,774,479 (GRCm39)	Y420F	probably benign	Het
Nedd1	G	A	10: 92,534,601 (GRCm39)	T303I	possibly damaging	Het
Nipal4	T	A	11: 46,042,160 (GRCm39)	M174L	probably benign	Het
Or6c213	A	C	10: 129,574,578 (GRCm39)	I69M	probably benign	Het
Pag1	T	A	3: 9,758,946 (GRCm39)	T391S	probably benign	Het
Palm3	A	G	8: 84,755,432 (GRCm39)	R315G	probably benign	Het
Patj	C	T	4: 98,575,675 (GRCm39)	R1177W	probably damaging	Het
Pbld2	G	A	10: 62,910,903 (GRCm39)		probably null	Het
Phldb1	A	T	9: 44,627,842 (GRCm39)	M81K	probably damaging	Het
Pkn2	A	G	3: 142,515,289 (GRCm39)	F682L	probably damaging	Het
Plce1	T	C	19: 38,747,392 (GRCm39)		probably null	Het
Plekha8	T	A	6: 54,617,959 (GRCm39)	V518E	probably damaging	Het
Ppp1r3a	T	A	6: 14,717,981 (GRCm39)	M978L	probably benign	Het
Ppp4r4	T	A	12: 103,564,410 (GRCm39)	C592S	possibly damaging	Het
Prdx6b	T	A	2: 80,123,546 (GRCm39)	D118E	possibly damaging	Het
Ptprg	T	C	14: 12,199,743 (GRCm38)	V52A	probably damaging	Het
Rab27b	A	G	18: 70,122,617 (GRCm39)	M114T	probably damaging	Het
Ralgps1	A	G	2: 33,230,723 (GRCm39)		probably null	Het
Rasa3	G	A	8: 13,632,372 (GRCm39)	P506L	probably benign	Het
Rps6kb1	G	A	11: 86,393,634 (GRCm39)	R499*	probably null	Het
S1pr4	A	G	10: 81,335,024 (GRCm39)	M150T	probably damaging	Het
Scube2	T	C	7: 109,430,882 (GRCm39)	D439G	probably damaging	Het
Serpina1e	T	C	12: 103,917,150 (GRCm39)	K173R	probably benign	Het
Serpina3m	T	A	12: 104,355,774 (GRCm39)	I147N	probably damaging	Het
Smad1	A	T	8: 80,070,473 (GRCm39)	V355E	probably damaging	Het
Srsf11	A	G	3: 157,725,065 (GRCm39)	V211A	possibly damaging	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Stt3a	C	T	9: 36,654,711 (GRCm39)		probably null	Het
Syne2	T	C	12: 76,010,557 (GRCm39)	V2488A	probably benign	Het
Tbc1d23	T	C	16: 56,993,463 (GRCm39)	T568A	possibly damaging	Het
Tnn	A	C	1: 159,968,258 (GRCm39)	V378G	probably damaging	Het
Trim50	T	C	5: 135,382,355 (GRCm39)	V69A	possibly damaging	Het
Ttll10	A	T	4: 156,132,024 (GRCm39)	D19E	probably damaging	Het
Ushbp1	G	A	8: 71,841,567 (GRCm39)	R421C	probably damaging	Het
Vmn2r2	T	C	3: 64,042,128 (GRCm39)	T196A	probably benign	Het
Wdr64	G	A	1: 175,639,585 (GRCm39)	S1028N	probably damaging	Het
Wwtr1	T	C	3: 57,369,996 (GRCm39)	Y373C	probably damaging	Het
Zeb1	A	T	18: 5,766,298 (GRCm39)	K216*	probably null	Het
Zfp39	T	C	11: 58,791,486 (GRCm39)	D67G	probably damaging	Het
Zfp40	A	G	17: 23,394,514 (GRCm39)	I691T	possibly damaging	Het
Zfp532	T	C	18: 65,758,215 (GRCm39)	V716A	probably benign	Het
Zfp616	T	A	11: 73,976,105 (GRCm39)	C791*	probably null	Het
Zfp932	G	A	5: 110,144,489 (GRCm39)		probably benign	Het

Other mutations in Sh3rf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00596:Sh3rf3	APN	10	58,885,178 (GRCm39)	missense	probably benign	0.06
IGL01898:Sh3rf3	APN	10	58,885,352 (GRCm39)	missense	probably damaging	0.99
IGL02108:Sh3rf3	APN	10	58,971,650 (GRCm39)	missense	probably damaging	1.00
IGL02148:Sh3rf3	APN	10	58,922,562 (GRCm39)	missense	probably benign	0.02
exasperated	UTSW	10	58,922,646 (GRCm39)	missense	probably benign	0.06
strained	UTSW	10	58,842,925 (GRCm39)	missense	probably damaging	1.00
R0421:Sh3rf3	UTSW	10	58,819,897 (GRCm39)	missense	probably damaging	1.00
R1056:Sh3rf3	UTSW	10	58,842,904 (GRCm39)	missense	probably damaging	1.00
R1313:Sh3rf3	UTSW	10	58,907,821 (GRCm39)	missense	possibly damaging	0.92
R1313:Sh3rf3	UTSW	10	58,907,821 (GRCm39)	missense	possibly damaging	0.92
R1615:Sh3rf3	UTSW	10	58,966,899 (GRCm39)	missense	probably benign	0.02
R1869:Sh3rf3	UTSW	10	58,919,335 (GRCm39)	missense	probably damaging	1.00
R1924:Sh3rf3	UTSW	10	58,939,989 (GRCm39)	splice site	probably benign
R1968:Sh3rf3	UTSW	10	58,649,809 (GRCm39)	missense	probably benign	0.32
R2353:Sh3rf3	UTSW	10	58,842,895 (GRCm39)	missense	probably damaging	1.00
R3617:Sh3rf3	UTSW	10	58,922,685 (GRCm39)	missense	possibly damaging	0.83
R3769:Sh3rf3	UTSW	10	58,820,013 (GRCm39)	missense	probably benign	0.07
R4059:Sh3rf3	UTSW	10	58,919,355 (GRCm39)	missense	probably damaging	1.00
R4425:Sh3rf3	UTSW	10	58,919,398 (GRCm39)	missense	probably benign	0.00
R4690:Sh3rf3	UTSW	10	58,649,526 (GRCm39)	missense	possibly damaging	0.93
R4832:Sh3rf3	UTSW	10	58,649,905 (GRCm39)	missense	probably benign	0.19
R4853:Sh3rf3	UTSW	10	58,919,341 (GRCm39)	missense	probably damaging	1.00
R4854:Sh3rf3	UTSW	10	58,649,545 (GRCm39)	missense	possibly damaging	0.93
R4917:Sh3rf3	UTSW	10	58,842,925 (GRCm39)	missense	probably damaging	1.00
R4918:Sh3rf3	UTSW	10	58,842,925 (GRCm39)	missense	probably damaging	1.00
R4995:Sh3rf3	UTSW	10	58,922,646 (GRCm39)	missense	probably benign	0.06
R5125:Sh3rf3	UTSW	10	58,967,012 (GRCm39)	missense	probably benign	0.14
R5640:Sh3rf3	UTSW	10	58,649,769 (GRCm39)	missense	probably benign
R5716:Sh3rf3	UTSW	10	58,967,105 (GRCm39)	missense	probably benign	0.03
R5756:Sh3rf3	UTSW	10	58,940,204 (GRCm39)	missense	probably damaging	0.98
R5848:Sh3rf3	UTSW	10	58,819,975 (GRCm39)	missense	possibly damaging	0.54
R5908:Sh3rf3	UTSW	10	58,885,270 (GRCm39)	missense	probably benign	0.32
R5930:Sh3rf3	UTSW	10	58,966,808 (GRCm39)	missense	probably damaging	1.00
R6036:Sh3rf3	UTSW	10	58,649,806 (GRCm39)	missense	probably benign	0.19
R6036:Sh3rf3	UTSW	10	58,649,806 (GRCm39)	missense	probably benign	0.19
R6392:Sh3rf3	UTSW	10	58,842,898 (GRCm39)	missense	probably damaging	0.97
R6450:Sh3rf3	UTSW	10	58,819,966 (GRCm39)	missense	probably damaging	1.00
R6470:Sh3rf3	UTSW	10	58,819,791 (GRCm39)	missense	probably damaging	1.00
R6639:Sh3rf3	UTSW	10	58,919,289 (GRCm39)	missense	probably damaging	1.00
R6685:Sh3rf3	UTSW	10	58,922,663 (GRCm39)	missense	possibly damaging	0.95
R7292:Sh3rf3	UTSW	10	58,907,795 (GRCm39)	missense	probably damaging	1.00
R7789:Sh3rf3	UTSW	10	58,922,637 (GRCm39)	missense	probably benign	0.01
R7941:Sh3rf3	UTSW	10	58,842,883 (GRCm39)	missense	probably damaging	0.99
R7959:Sh3rf3	UTSW	10	58,842,925 (GRCm39)	missense	probably damaging	1.00
R8140:Sh3rf3	UTSW	10	58,885,177 (GRCm39)	missense	possibly damaging	0.88
R8142:Sh3rf3	UTSW	10	58,885,205 (GRCm39)	nonsense	probably null
R8241:Sh3rf3	UTSW	10	58,940,242 (GRCm39)	missense	probably benign	0.11
R8406:Sh3rf3	UTSW	10	58,919,407 (GRCm39)	missense	probably damaging	1.00
R8725:Sh3rf3	UTSW	10	58,939,992 (GRCm39)	critical splice acceptor site	probably null
R8727:Sh3rf3	UTSW	10	58,939,992 (GRCm39)	critical splice acceptor site	probably null
R9341:Sh3rf3	UTSW	10	58,966,802 (GRCm39)	missense	probably damaging	0.99
R9343:Sh3rf3	UTSW	10	58,966,802 (GRCm39)	missense	probably damaging	0.99
RF020:Sh3rf3	UTSW	10	58,649,590 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTACTGGGATTTCAAGCCTGTG -3'
(R):5'- CTGGGAGTTTTGTGTCCATACC -3'

Sequencing Primer
(F):5'- GATTTCAAGCCTGTGCGCAAC -3'
(R):5'- ATGGTGGTATCCCCGGC -3'

Posted On

2014-06-23