Mutagenetix > Incidental Mutation

Incidental Mutation 'R9103:Fnbp4'

691793

Institutional Source

Beutler Lab

Gene Symbol

Fnbp4

Ensembl Gene

ENSMUSG00000008200

Gene Name

formin binding protein 4

Synonyms

FBP30

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.918) question?

Stock #

R9103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90575793-90611365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90608187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 970 (T970A)

Ref Sequence

ENSEMBL: ENSMUSP00000013759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013759] [ENSMUST00000037219] [ENSMUST00000051831] [ENSMUST00000136058] [ENSMUST00000170320]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000013759
AA Change: T970A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000013759
Gene: ENSMUSG00000008200
AA Change: T970A

Domain	Start	End	E-Value	Type
low complexity region	65	140	N/A	INTRINSIC
low complexity region	165	175	N/A	INTRINSIC
low complexity region	204	235	N/A	INTRINSIC
WW	265	298	3.58e-5	SMART
low complexity region	372	381	N/A	INTRINSIC
low complexity region	386	393	N/A	INTRINSIC
low complexity region	404	416	N/A	INTRINSIC
coiled coil region	442	478	N/A	INTRINSIC
low complexity region	515	533	N/A	INTRINSIC
WW	650	683	1.77e-9	SMART
low complexity region	757	788	N/A	INTRINSIC
low complexity region	891	909	N/A	INTRINSIC
low complexity region	955	1002	N/A	INTRINSIC
low complexity region	1018	1032	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000037219

SMART Domains

Protein: ENSMUSP00000048647
Gene: ENSMUSG00000040812

Domain	Start	End	E-Value	Type
low complexity region	98	106	N/A	INTRINSIC
Pfam:Peptidase_M14	374	618	5e-32	PFAM
low complexity region	640	655	N/A	INTRINSIC
low complexity region	674	689	N/A	INTRINSIC
low complexity region	761	776	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000051831

SMART Domains

Protein: ENSMUSP00000051620
Gene: ENSMUSG00000040812

Domain	Start	End	E-Value	Type
low complexity region	98	106	N/A	INTRINSIC
Pfam:Peptidase_M14	376	565	1.6e-18	PFAM
low complexity region	640	655	N/A	INTRINSIC
low complexity region	674	689	N/A	INTRINSIC
low complexity region	761	776	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136058

SMART Domains

Protein: ENSMUSP00000115632
Gene: ENSMUSG00000040812

Domain	Start	End	E-Value	Type
low complexity region	98	106	N/A	INTRINSIC
Pfam:Peptidase_M14	374	618	2.8e-32	PFAM
low complexity region	640	655	N/A	INTRINSIC
low complexity region	674	689	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170320

SMART Domains

Protein: ENSMUSP00000129216
Gene: ENSMUSG00000040812

Domain	Start	End	E-Value	Type
low complexity region	98	106	N/A	INTRINSIC
Pfam:Peptidase_M14	376	558	1.8e-18	PFAM
low complexity region	640	655	N/A	INTRINSIC
low complexity region	674	689	N/A	INTRINSIC
low complexity region	761	776	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (73/73)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	T	A	12: 113,454,558 (GRCm39)	C458*	probably null	Het
Adgra2	G	A	8: 27,603,436 (GRCm39)	G407D	probably damaging	Het
Aox4	G	A	1: 58,296,441 (GRCm39)	G1046E	probably damaging	Het
Arhgap27	A	G	11: 103,251,540 (GRCm39)	Y63H	probably damaging	Het
Ascl3	A	T	7: 109,327,127 (GRCm39)	M64K	probably benign	Het
Cacna2d3	G	A	14: 29,068,971 (GRCm39)	T252I	probably damaging	Het
Capn7	A	G	14: 31,091,732 (GRCm39)	T710A	probably benign	Het
Carmil1	A	G	13: 24,295,836 (GRCm39)	C393R	probably benign	Het
Chd5	A	C	4: 152,461,444 (GRCm39)	E1215A	possibly damaging	Het
Cntnap1	A	G	11: 101,072,094 (GRCm39)	N449S	probably benign	Het
Cpz	G	A	5: 35,675,054 (GRCm39)	S65L	probably benign	Het
Cyp2c68	T	A	19: 39,727,625 (GRCm39)	N118I	possibly damaging	Het
Ddx25	A	T	9: 35,458,085 (GRCm39)	F345I	probably benign	Het
Dennd2d	T	C	3: 106,397,684 (GRCm39)	Y161H		Het
Egfl8	C	T	17: 34,833,210 (GRCm39)	D179N	probably benign	Het
Eif2a	A	G	3: 58,452,461 (GRCm39)	N174S		Het
Farp1	C	T	14: 121,509,104 (GRCm39)	H643Y	possibly damaging	Het
Fat1	G	T	8: 45,404,850 (GRCm39)	V534L	probably benign	Het
Fbxo48	A	G	11: 16,903,556 (GRCm39)	T61A	probably benign	Het
Foxd1	T	A	13: 98,491,763 (GRCm39)	D212E	possibly damaging	Het
Fstl4	C	A	11: 52,664,696 (GRCm39)	H9N	probably benign	Het
Fyb1	A	G	15: 6,673,232 (GRCm39)	D622G	possibly damaging	Het
Gm4787	T	A	12: 81,425,489 (GRCm39)	H223L	probably benign	Het
Grin3a	A	G	4: 49,771,179 (GRCm39)	V531A	probably damaging	Het
Gzmb	T	C	14: 56,498,622 (GRCm39)	D42G	probably benign	Het
Herc2	T	A	7: 55,784,803 (GRCm39)	Y1416N	possibly damaging	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Hsd17b6	A	G	10: 127,833,876 (GRCm39)	W2R	probably damaging	Het
Hspa4l	T	C	3: 40,715,349 (GRCm39)		probably null	Het
Igtp	A	G	11: 58,097,726 (GRCm39)	E299G		Het
Klhl28	T	C	12: 64,990,300 (GRCm39)	D547G	possibly damaging	Het
Leng8	G	C	7: 4,146,897 (GRCm39)	R473P	probably damaging	Het
Lin37	T	A	7: 30,257,055 (GRCm39)	N53Y	possibly damaging	Het
Lrp1	G	A	10: 127,430,979 (GRCm39)	Q357*	probably null	Het
Lrrfip2	A	T	9: 111,034,840 (GRCm39)	K176N	probably damaging	Het
Ltbp4	A	G	7: 27,028,186 (GRCm39)	S390P	unknown	Het
Map3k2	G	A	18: 32,353,625 (GRCm39)	R465H	possibly damaging	Het
Mthfd1	T	A	12: 76,350,517 (GRCm39)	V665E	probably damaging	Het
Myh3	A	T	11: 66,989,451 (GRCm39)	I1524F	probably benign	Het
Myo1g	A	G	11: 6,466,153 (GRCm39)	S339P	possibly damaging	Het
Nf1	A	G	11: 79,450,332 (GRCm39)	K506R	probably damaging	Het
Nudt21	A	G	8: 94,746,321 (GRCm39)	I225T	probably benign	Het
Or4c31	A	G	2: 88,291,942 (GRCm39)	K105R	probably benign	Het
Or56b1b	A	T	7: 108,164,780 (GRCm39)	L74Q	probably benign	Het
Or5g9	T	A	2: 85,552,527 (GRCm39)	Y259*	probably null	Het
Or8b3	A	G	9: 38,314,518 (GRCm39)	Y116C	probably damaging	Het
Or8c18	A	T	9: 38,203,969 (GRCm39)	I243F	probably damaging	Het
Pax2	C	T	19: 44,806,968 (GRCm39)	T299I	probably benign	Het
Pde4dip	C	T	3: 97,749,044 (GRCm39)	S99N	probably damaging	Het
Pdlim5	T	A	3: 142,010,174 (GRCm39)	H147L	possibly damaging	Het
Pfkfb3	T	A	2: 11,487,381 (GRCm39)	Y343F	probably damaging	Het
Phf10	A	G	17: 15,174,382 (GRCm39)	I232T	probably damaging	Het
Plcb3	C	T	19: 6,936,288 (GRCm39)	G745D	probably benign	Het
Pramel11	G	A	4: 143,624,381 (GRCm39)	L39F	probably damaging	Het
Recql	C	A	6: 142,322,515 (GRCm39)	C129F	possibly damaging	Het
Rrp1	C	T	10: 78,240,876 (GRCm39)	D288N	unknown	Het
Samd4	T	C	14: 47,254,066 (GRCm39)	Y177H	probably benign	Het
Sim1	T	A	10: 50,785,525 (GRCm39)	M198K	possibly damaging	Het
Six4	T	C	12: 73,155,964 (GRCm39)	I334M	probably damaging	Het
Slc27a6	T	C	18: 58,705,268 (GRCm39)	S217P	probably damaging	Het
Slc2a4	T	A	11: 69,836,218 (GRCm39)	K264N	probably benign	Het
Slc8b1	A	T	5: 120,670,939 (GRCm39)	I476F	probably benign	Het
Smcp	T	C	3: 92,491,838 (GRCm39)	D3G	unknown	Het
Tagap	A	T	17: 8,152,335 (GRCm39)	M507L	probably benign	Het
Thap11	A	G	8: 106,582,780 (GRCm39)	E263G	probably damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Top3a	T	G	11: 60,654,253 (GRCm39)		probably null	Het
Ube2q2l	T	A	6: 136,378,011 (GRCm39)	D273V	probably benign	Het
Vmn1r31	A	G	6: 58,449,073 (GRCm39)	V264A	unknown	Het
Vti1a	A	C	19: 55,316,865 (GRCm39)	M81L	probably benign	Het
Wscd1	T	C	11: 71,674,245 (GRCm39)		probably null	Het
Zfp595	T	C	13: 67,464,676 (GRCm39)	E532G	probably damaging	Het
Zranb1	T	A	7: 132,584,167 (GRCm39)	V539D	probably damaging	Het

Other mutations in Fnbp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Fnbp4	APN	2	90,581,966 (GRCm39)	splice site	probably benign
IGL00731:Fnbp4	APN	2	90,598,987 (GRCm39)	missense	probably benign
IGL01021:Fnbp4	APN	2	90,608,013 (GRCm39)	missense	probably benign	0.06
IGL01097:Fnbp4	APN	2	90,606,694 (GRCm39)	missense	possibly damaging	0.63
IGL02504:Fnbp4	APN	2	90,598,887 (GRCm39)	missense	probably damaging	1.00
IGL02510:Fnbp4	APN	2	90,581,819 (GRCm39)	missense	probably benign
IGL02673:Fnbp4	APN	2	90,593,816 (GRCm39)	missense	probably benign	0.01
IGL03024:Fnbp4	APN	2	90,581,523 (GRCm39)	missense	probably benign	0.11
IGL03221:Fnbp4	APN	2	90,608,062 (GRCm39)	missense	possibly damaging	0.65
R0570:Fnbp4	UTSW	2	90,583,301 (GRCm39)	missense	probably damaging	1.00
R1914:Fnbp4	UTSW	2	90,609,537 (GRCm39)	unclassified	probably benign
R1925:Fnbp4	UTSW	2	90,596,187 (GRCm39)	missense	probably damaging	1.00
R2051:Fnbp4	UTSW	2	90,587,876 (GRCm39)	missense	probably benign	0.05
R2069:Fnbp4	UTSW	2	90,588,716 (GRCm39)	missense	probably damaging	1.00
R2165:Fnbp4	UTSW	2	90,597,743 (GRCm39)	splice site	probably null
R2262:Fnbp4	UTSW	2	90,587,748 (GRCm39)	missense	probably damaging	1.00
R3836:Fnbp4	UTSW	2	90,577,129 (GRCm39)	missense	probably damaging	1.00
R4077:Fnbp4	UTSW	2	90,588,821 (GRCm39)	nonsense	probably null
R4356:Fnbp4	UTSW	2	90,588,683 (GRCm39)	missense	probably damaging	1.00
R4401:Fnbp4	UTSW	2	90,577,102 (GRCm39)	missense	possibly damaging	0.62
R4491:Fnbp4	UTSW	2	90,583,312 (GRCm39)	critical splice donor site	probably null
R4914:Fnbp4	UTSW	2	90,581,513 (GRCm39)	missense	probably benign	0.00
R4981:Fnbp4	UTSW	2	90,596,174 (GRCm39)	missense	probably damaging	1.00
R5165:Fnbp4	UTSW	2	90,608,001 (GRCm39)	missense	possibly damaging	0.65
R5272:Fnbp4	UTSW	2	90,583,459 (GRCm39)	missense	probably benign
R5683:Fnbp4	UTSW	2	90,583,206 (GRCm39)	missense	probably damaging	1.00
R5860:Fnbp4	UTSW	2	90,587,826 (GRCm39)	missense	probably benign	0.00
R5905:Fnbp4	UTSW	2	90,581,478 (GRCm39)	missense	probably benign	0.29
R5914:Fnbp4	UTSW	2	90,605,137 (GRCm39)	intron	probably benign
R6028:Fnbp4	UTSW	2	90,581,478 (GRCm39)	missense	probably benign	0.29
R6270:Fnbp4	UTSW	2	90,587,807 (GRCm39)	missense	probably damaging	1.00
R6379:Fnbp4	UTSW	2	90,581,468 (GRCm39)	missense	probably benign	0.41
R6389:Fnbp4	UTSW	2	90,575,879 (GRCm39)	missense	unknown
R6883:Fnbp4	UTSW	2	90,576,172 (GRCm39)	critical splice donor site	probably null
R6940:Fnbp4	UTSW	2	90,575,858 (GRCm39)	missense	unknown
R7242:Fnbp4	UTSW	2	90,576,140 (GRCm39)	missense	unknown
R7393:Fnbp4	UTSW	2	90,609,660 (GRCm39)	missense	probably damaging	0.99
R7454:Fnbp4	UTSW	2	90,608,159 (GRCm39)	unclassified	probably benign
R7455:Fnbp4	UTSW	2	90,608,159 (GRCm39)	unclassified	probably benign
R8051:Fnbp4	UTSW	2	90,608,083 (GRCm39)	missense	possibly damaging	0.77
R8283:Fnbp4	UTSW	2	90,577,115 (GRCm39)	missense	probably damaging	0.98
R8724:Fnbp4	UTSW	2	90,577,097 (GRCm39)	missense	probably damaging	1.00
R8845:Fnbp4	UTSW	2	90,606,368 (GRCm39)	missense	probably benign
R9140:Fnbp4	UTSW	2	90,576,077 (GRCm39)	missense	unknown
R9617:Fnbp4	UTSW	2	90,588,738 (GRCm39)	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- GCCTGCAGTCAAATTACCTCG -3'
(R):5'- CCAGACTCACAGATATGCATGTATG -3'

Sequencing Primer
(F):5'- TGCAGTCAAATTACCTCGGCCTAG -3'
(R):5'- AAGACAGGGTTCCACTATGTTGCTC -3'

Posted On

2021-12-30