Mutagenetix > Incidental Mutation

Incidental Mutation 'R2027:Cibar1'

220754

Institutional Source

Beutler Lab

Gene Symbol

Cibar1

Ensembl Gene

ENSMUSG00000028218

Gene Name

CBY1 interacting BAR domain containing 1

Synonyms

Fam92a, 6720467C03Rik

MMRRC Submission

040035-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2027 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

12153409-12172015 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 12171216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 79 (D79V)

Ref Sequence

ENSEMBL: ENSMUSP00000135961 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087052] [ENSMUST00000108285] [ENSMUST00000177837]

AlphaFold

Q8BP22

Predicted Effect

probably damaging
Transcript: ENSMUST00000087052
AA Change: D79V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000084284
Gene: ENSMUSG00000028218
AA Change: D79V

Domain	Start	End	E-Value	Type
Pfam:FAM92	70	284	2.2e-118	PFAM
low complexity region	333	350	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108285
AA Change: D79V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103920
Gene: ENSMUSG00000028218
AA Change: D79V

Domain	Start	End	E-Value	Type
Pfam:FAM92	70	288	4.9e-127	PFAM
low complexity region	337	354	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000126012
AA Change: D59V

SMART Domains

Protein: ENSMUSP00000133923
Gene: ENSMUSG00000028218
AA Change: D59V

Domain	Start	End	E-Value	Type
Pfam:FAM92	51	139	6.3e-37	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126808

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152219

Predicted Effect

probably benign
Transcript: ENSMUST00000154416

SMART Domains

Protein: ENSMUSP00000120369
Gene: ENSMUSG00000028218

Domain	Start	End	E-Value	Type
Pfam:FAM92	1	197	7.5e-95	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000177837
AA Change: D79V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135961
Gene: ENSMUSG00000028218
AA Change: D79V

Domain	Start	End	E-Value	Type
Pfam:FAM92	70	288	4.2e-109	PFAM
low complexity region	337	354	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.7%

Validation Efficiency

100% (70/70)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	T	C	9: 99,502,254 (GRCm39)	V138A	possibly damaging	Het
Aatk	A	G	11: 119,900,143 (GRCm39)	S1291P	probably damaging	Het
Adgrv1	C	T	13: 81,743,301 (GRCm39)	V67M	probably damaging	Het
Apoa4	G	A	9: 46,154,298 (GRCm39)	V300M	probably damaging	Het
Bcl2a1d	A	T	9: 88,613,438 (GRCm39)	V112E	possibly damaging	Het
Bltp1	T	A	3: 37,102,110 (GRCm39)		probably benign	Het
Cabp2	T	A	19: 4,137,126 (GRCm39)	M166K	probably damaging	Het
Camsap1	A	G	2: 25,828,538 (GRCm39)	V1062A	possibly damaging	Het
Cap1	T	G	4: 122,756,686 (GRCm39)		probably benign	Het
Caprin2	A	G	6: 148,779,385 (GRCm39)	Y141H	probably damaging	Het
Card11	T	C	5: 140,892,522 (GRCm39)	Y181C	probably damaging	Het
Ccdc107	T	C	4: 43,495,874 (GRCm39)	V259A	probably benign	Het
Ccn4	A	G	15: 66,789,258 (GRCm39)	E248G	possibly damaging	Het
Chd9	A	G	8: 91,634,619 (GRCm39)		probably benign	Het
Col12a1	T	C	9: 79,553,075 (GRCm39)		probably null	Het
Cuzd1	T	C	7: 130,921,820 (GRCm39)	T61A	possibly damaging	Het
Dbp	C	A	7: 45,357,700 (GRCm39)	D89E	probably benign	Het
Dhps	A	T	8: 85,799,240 (GRCm39)	N140Y	probably damaging	Het
Dido1	A	T	2: 180,330,974 (GRCm39)	L158*	probably null	Het
Dnah9	T	G	11: 65,846,164 (GRCm39)	N2958T	probably benign	Het
Dpp8	T	A	9: 64,986,056 (GRCm39)	Y849N	probably damaging	Het
Dsg2	A	G	18: 20,716,061 (GRCm39)		probably benign	Het
Efemp1	A	T	11: 28,864,696 (GRCm39)	Y250F	possibly damaging	Het
Faxc	T	C	4: 21,958,439 (GRCm39)		probably benign	Het
Frem3	G	T	8: 81,421,966 (GRCm39)	C2122F	possibly damaging	Het
Gan	T	C	8: 117,914,238 (GRCm39)		probably null	Het
Gnl1	A	G	17: 36,293,850 (GRCm39)	N274D	probably benign	Het
Hook3	T	C	8: 26,528,126 (GRCm39)	E588G	probably damaging	Het
Itpr1	C	A	6: 108,363,814 (GRCm39)	S812Y	possibly damaging	Het
Kbtbd3	C	T	9: 4,317,075 (GRCm39)		probably benign	Het
Macf1	C	T	4: 123,265,711 (GRCm39)	A4821T	probably damaging	Het
Mepe	T	C	5: 104,474,957 (GRCm39)	S13P	possibly damaging	Het
Msantd5f6	A	G	4: 73,321,295 (GRCm39)	I154T	possibly damaging	Het
Myh11	A	G	16: 14,050,532 (GRCm39)	Y478H	probably damaging	Het
Myo7b	A	G	18: 32,118,013 (GRCm39)	V871A	probably benign	Het
Nckap1	A	T	2: 80,365,862 (GRCm39)	M466K	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or4k6	A	G	14: 50,475,406 (GRCm39)	I312T	probably benign	Het
Or52r1b	A	T	7: 102,690,731 (GRCm39)	H15L	probably benign	Het
Or5aq1b	T	A	2: 86,901,897 (GRCm39)	N194Y	possibly damaging	Het
Or5m13	A	C	2: 85,749,114 (GRCm39)	S282R	probably damaging	Het
Or9k2	A	G	10: 129,998,604 (GRCm39)	I197T	probably benign	Het
Or9s23	A	T	1: 92,501,489 (GRCm39)	T199S	probably damaging	Het
Otof	T	C	5: 30,578,358 (GRCm39)	T97A	probably benign	Het
Peli2	G	A	14: 48,493,602 (GRCm39)	E275K	probably benign	Het
Pik3c2a	T	C	7: 115,950,057 (GRCm39)	Y1320C	probably damaging	Het
Pkn1	A	G	8: 84,398,007 (GRCm39)	V795A	probably damaging	Het
Pramel5	A	G	4: 143,998,274 (GRCm39)	L323P	probably damaging	Het
Prr5	A	T	15: 84,585,580 (GRCm39)	R183W	probably damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rabgef1	A	G	5: 130,237,620 (GRCm39)	D231G	possibly damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rc3h1	C	T	1: 160,782,507 (GRCm39)	P662L	probably benign	Het
Rpl7a-ps5	G	T	17: 58,146,090 (GRCm39)	Q47K	probably benign	Het
Sclt1	G	A	3: 41,685,323 (GRCm39)	T45I	probably benign	Het
Slc22a17	A	G	14: 55,145,543 (GRCm39)	I202T	probably damaging	Het
Slc25a13	A	G	6: 6,073,487 (GRCm39)	L457S	probably damaging	Het
Slc44a3	T	C	3: 121,257,059 (GRCm39)		probably benign	Het
Slc7a9	G	A	7: 35,153,562 (GRCm39)	V188M	probably damaging	Het
Spata31d1e	A	G	13: 59,890,401 (GRCm39)	M55T	possibly damaging	Het
Tmem161a	T	A	8: 70,630,170 (GRCm39)	F119I	probably damaging	Het
Tmem240	A	G	4: 155,819,892 (GRCm39)	D32G	possibly damaging	Het
Tmtc4	T	C	14: 123,158,677 (GRCm39)	N682S	probably benign	Het
Uqcrc1	G	A	9: 108,776,083 (GRCm39)	V262M	probably benign	Het
Vmn1r87	G	A	7: 12,865,823 (GRCm39)	R155C	probably damaging	Het
Vmn2r100	A	T	17: 19,742,334 (GRCm39)	Q236L	probably benign	Het
Vmn2r97	T	A	17: 19,149,944 (GRCm39)	I444N	unknown	Het
Yif1a	A	T	19: 5,139,900 (GRCm39)	H115L	probably damaging	Het
Zfp280b	T	C	10: 75,874,328 (GRCm39)	L69S	probably damaging	Het
Zfp579	C	A	7: 4,996,520 (GRCm39)	E464*	probably null	Het

Other mutations in Cibar1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02514:Cibar1	APN	4	12,164,080 (GRCm39)	splice site	probably benign
R0558:Cibar1	UTSW	4	12,164,095 (GRCm39)	missense	probably damaging	0.99
R0616:Cibar1	UTSW	4	12,168,234 (GRCm39)	nonsense	probably null
R1581:Cibar1	UTSW	4	12,155,745 (GRCm39)	splice site	probably null
R1862:Cibar1	UTSW	4	12,155,717 (GRCm39)	missense	possibly damaging	0.70
R2185:Cibar1	UTSW	4	12,169,041 (GRCm39)	splice site	probably benign
R2212:Cibar1	UTSW	4	12,171,696 (GRCm39)	critical splice donor site	probably null
R3053:Cibar1	UTSW	4	12,157,767 (GRCm39)	splice site	probably null
R4441:Cibar1	UTSW	4	12,157,733 (GRCm39)	missense	probably damaging	1.00
R4771:Cibar1	UTSW	4	12,155,689 (GRCm39)	missense	probably benign	0.03
R5290:Cibar1	UTSW	4	12,171,195 (GRCm39)	missense	probably benign	0.08
R5928:Cibar1	UTSW	4	12,171,919 (GRCm39)	unclassified	probably benign
R6529:Cibar1	UTSW	4	12,168,978 (GRCm39)	missense	probably damaging	0.98
R6909:Cibar1	UTSW	4	12,168,309 (GRCm39)	missense	probably benign	0.05
R8182:Cibar1	UTSW	4	12,171,842 (GRCm39)	missense	probably benign	0.00
R8292:Cibar1	UTSW	4	12,153,963 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- CCTGGCGATAATCTTGAAGTTTG -3'
(R):5'- TGCAAGGTTCTAGGCAGGAC -3'

Sequencing Primer
(F):5'- GTTTGGCAAACTCATCAGCAAAGTC -3'
(R):5'- TTCTAGGCAGGACCAGAGC -3'

Posted On

2014-08-25