Mutagenetix > Incidental Mutation

Incidental Mutation 'R7510:Bend4'

582015

Institutional Source

Beutler Lab

Gene Symbol

Bend4

Ensembl Gene

ENSMUSG00000092060

Gene Name

BEN domain containing 4

Synonyms

EG666938, D330027G24Rik

MMRRC Submission

045583-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.370) question?

Stock #

R7510 (G1)

Quality Score

98.0078

Status

Not validated

Chromosome

Chromosomal Location

67549490-67585471 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67584727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 66 (F66L)

Ref Sequence

ENSEMBL: ENSMUSP00000132684 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169190] [ENSMUST00000201528] [ENSMUST00000201705] [ENSMUST00000201972] [ENSMUST00000202131]

AlphaFold

P86174

Predicted Effect

unknown
Transcript: ENSMUST00000169190
AA Change: F66L

SMART Domains

Protein: ENSMUSP00000132684
Gene: ENSMUSG00000092060
AA Change: F66L

Domain	Start	End	E-Value	Type
low complexity region	44	73	N/A	INTRINSIC
low complexity region	86	143	N/A	INTRINSIC
low complexity region	148	171	N/A	INTRINSIC
Blast:BRLZ	332	372	4e-14	BLAST
BEN	420	502	3.71e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000201528

Predicted Effect

probably benign
Transcript: ENSMUST00000201705

SMART Domains

Protein: ENSMUSP00000144426
Gene: ENSMUSG00000092060

Domain	Start	End	E-Value	Type
low complexity region	3	60	N/A	INTRINSIC
low complexity region	65	88	N/A	INTRINSIC
Blast:BRLZ	249	289	3e-14	BLAST
Pfam:BEN	338	390	7.1e-7	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000201972
AA Change: F66L

SMART Domains

Protein: ENSMUSP00000144639
Gene: ENSMUSG00000092060
AA Change: F66L

Domain	Start	End	E-Value	Type
low complexity region	44	73	N/A	INTRINSIC
low complexity region	86	143	N/A	INTRINSIC
low complexity region	148	171	N/A	INTRINSIC
Blast:BRLZ	332	372	4e-14	BLAST
BEN	420	502	3.71e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000202131

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

97% (65/67)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2b1	C	T	10: 98,829,758 (GRCm39)	R320C	probably benign	Het
Brca2	T	C	5: 150,460,156 (GRCm39)	V477A	possibly damaging	Het
Brms1l	A	T	12: 55,892,107 (GRCm39)	K134*	probably null	Het
Catsper1	A	T	19: 5,389,578 (GRCm39)	T498S	probably benign	Het
Ccdc177	C	A	12: 80,804,457 (GRCm39)	V606L	unknown	Het
D030056L22Rik	G	T	19: 18,690,853 (GRCm39)	A56S	possibly damaging	Het
Disp1	T	C	1: 182,869,975 (GRCm39)	N815S	probably damaging	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Fancf	A	G	7: 51,511,953 (GRCm39)	V17A	probably damaging	Het
Fastkd2	T	A	1: 63,776,948 (GRCm39)	H361Q	possibly damaging	Het
Furin	A	G	7: 80,043,333 (GRCm39)	S293P	probably damaging	Het
Ghsr	A	T	3: 27,426,523 (GRCm39)	D193V	probably benign	Het
Gm14403	T	A	2: 177,200,403 (GRCm39)	N116K	probably benign	Het
Gpr31b	A	G	17: 13,270,557 (GRCm39)	L204P	probably damaging	Het
Hexim1	A	G	11: 103,008,067 (GRCm39)	E107G	probably benign	Het
Hspa14	T	C	2: 3,499,159 (GRCm39)	S212G	probably benign	Het
Il18r1	T	A	1: 40,514,035 (GRCm39)	H80Q	probably benign	Het
Itpr3	A	G	17: 27,308,013 (GRCm39)	T267A	probably damaging	Het
Kidins220	T	A	12: 25,042,268 (GRCm39)	H146Q	possibly damaging	Het
Larp4	T	C	15: 99,891,258 (GRCm39)	F228L	probably benign	Het
Ltbp1	T	A	17: 75,659,712 (GRCm39)	V1288E	probably damaging	Het
Madd	T	C	2: 91,008,321 (GRCm39)	T194A	possibly damaging	Het
Mlana	G	A	19: 29,682,072 (GRCm39)	G42S	probably benign	Het
Mlxipl	A	G	5: 135,161,972 (GRCm39)	E548G	possibly damaging	Het
Mmab	A	T	5: 114,573,283 (GRCm39)	C228S	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nrf1	C	T	6: 30,151,633 (GRCm39)	T490I	possibly damaging	Het
Numbl	A	G	7: 26,971,412 (GRCm39)		probably null	Het
Or12e13	T	A	2: 87,663,872 (GRCm39)	I163K	probably damaging	Het
Or13c7	A	G	4: 43,854,482 (GRCm39)	T58A	probably benign	Het
Or5bw2	C	T	7: 6,572,960 (GRCm39)		probably benign	Het
Or5v1b	T	A	17: 37,841,480 (GRCm39)	I204N	probably damaging	Het
Or6c3b	G	T	10: 129,527,789 (GRCm39)	N40K	probably damaging	Het
Or9g8	T	A	2: 85,607,153 (GRCm39)	V75D	probably damaging	Het
Papln	G	A	12: 83,818,947 (GRCm39)	D96N	probably damaging	Het
Pcdhb14	T	C	18: 37,582,645 (GRCm39)	Y584H	probably damaging	Het
Pde7b	T	C	10: 20,288,761 (GRCm39)	D310G	possibly damaging	Het
Plin5	T	A	17: 56,420,975 (GRCm39)	H230L	probably damaging	Het
Ppp1r13l	A	C	7: 19,102,726 (GRCm39)	E47A	possibly damaging	Het
Prdm5	C	T	6: 65,904,976 (GRCm39)	H536Y	probably damaging	Het
Prickle2	T	C	6: 92,353,451 (GRCm39)	R728G	possibly damaging	Het
Prkca	A	T	11: 107,874,820 (GRCm39)	V374E	possibly damaging	Het
Prss3	A	T	6: 41,352,044 (GRCm39)	L73*	probably null	Het
Prss51	G	A	14: 64,333,489 (GRCm39)	D33N	probably damaging	Het
Rfwd3	A	G	8: 112,006,659 (GRCm39)	V479A	probably damaging	Het
Rpl36a-ps1	G	A	14: 99,231,666 (GRCm39)	T24I	probably benign	Het
Rps6ka5	T	C	12: 100,582,327 (GRCm39)	I182V	possibly damaging	Het
Saa2	T	A	7: 46,402,933 (GRCm39)	D61E	probably damaging	Het
Samd3	A	T	10: 26,106,006 (GRCm39)	I22F	probably benign	Het
Sap130	C	T	18: 31,800,057 (GRCm39)	P403L	probably damaging	Het
Sap130	A	G	18: 31,844,268 (GRCm39)	T813A	probably damaging	Het
Scfd2	A	G	5: 74,372,988 (GRCm39)	F629S	probably damaging	Het
Sec61a1	A	T	6: 88,489,585 (GRCm39)	F119I	probably benign	Het
Serpinb9	T	A	13: 33,194,768 (GRCm39)	F175I	probably damaging	Het
Slc12a3	G	T	8: 95,092,477 (GRCm39)	C966F	probably damaging	Het
Sptbn4	A	G	7: 27,127,693 (GRCm39)	V169A	probably benign	Het
Synj1	A	G	16: 90,735,565 (GRCm39)	S1463P	probably benign	Het
Tfec	T	A	6: 16,835,232 (GRCm39)	H182L	probably benign	Het
Tigd5	T	C	15: 75,782,268 (GRCm39)	V210A	probably benign	Het
Tssc4	G	A	7: 142,623,718 (GRCm39)	E9K	possibly damaging	Het
Txk	C	G	5: 72,893,726 (GRCm39)	C18S	unknown	Het
Uaca	G	A	9: 60,757,487 (GRCm39)		probably null	Het
Vmn2r1	A	C	3: 63,993,922 (GRCm39)	K89N	probably damaging	Het
Zfp160	G	A	17: 21,246,655 (GRCm39)	E402K	probably benign	Het

Other mutations in Bend4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0449:Bend4	UTSW	5	67,555,583 (GRCm39)	missense	probably damaging	1.00
R1459:Bend4	UTSW	5	67,557,418 (GRCm39)	missense	probably damaging	0.97
R1996:Bend4	UTSW	5	67,557,527 (GRCm39)	missense	probably damaging	1.00
R4858:Bend4	UTSW	5	67,574,915 (GRCm39)	missense	probably damaging	0.96
R4927:Bend4	UTSW	5	67,557,619 (GRCm39)	missense	probably damaging	1.00
R5724:Bend4	UTSW	5	67,575,284 (GRCm39)	missense	probably damaging	1.00
R5964:Bend4	UTSW	5	67,575,161 (GRCm39)	missense	probably benign	0.20
R7002:Bend4	UTSW	5	67,555,602 (GRCm39)	missense	probably benign	0.00
R7067:Bend4	UTSW	5	67,557,611 (GRCm39)	missense	probably damaging	0.99
R7251:Bend4	UTSW	5	67,584,876 (GRCm39)	missense	unknown
R9026:Bend4	UTSW	5	67,584,475 (GRCm39)	missense	unknown
R9148:Bend4	UTSW	5	67,557,415 (GRCm39)	missense	probably damaging	1.00
R9170:Bend4	UTSW	5	67,575,080 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGTACCTGCACTGAGCTC -3'
(R):5'- CAGATATTACCCTAAACACTTGCTC -3'

Sequencing Primer
(F):5'- GTACCTGACGACGGCGG -3'
(R):5'- TGTCAATCAGCGCTGGG -3'

Posted On

2019-10-17