Mutagenetix > Incidental Mutation

Incidental Mutation 'R7462:Gm57858'

596164

Institutional Source

Beutler Lab

Gene Symbol

Gm57858

Ensembl Gene

ENSMUSG00000047696

Gene Name

gene model 57858

Synonyms

Ccdc144b

MMRRC Submission

045536-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R7462 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36061396-36107696 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to A at 36080055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142910 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166644] [ENSMUST00000196964] [ENSMUST00000200469]

AlphaFold

E9PVZ3

Predicted Effect

probably null
Transcript: ENSMUST00000166644

SMART Domains

Protein: ENSMUSP00000132995
Gene: ENSMUSG00000047696

Domain	Start	End	E-Value	Type
coiled coil region	65	97	N/A	INTRINSIC
coiled coil region	121	166	N/A	INTRINSIC
coiled coil region	231	327	N/A	INTRINSIC
Pfam:DUF3496	381	488	1.6e-45	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000196964
AA Change: Y234F

SMART Domains

Protein: ENSMUSP00000142406
Gene: ENSMUSG00000047696
AA Change: Y234F

Domain	Start	End	E-Value	Type
coiled coil region	65	97	N/A	INTRINSIC
coiled coil region	121	166	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000200469

SMART Domains

Protein: ENSMUSP00000142910
Gene: ENSMUSG00000047696

Domain	Start	End	E-Value	Type
coiled coil region	65	97	N/A	INTRINSIC
coiled coil region	121	166	N/A	INTRINSIC
coiled coil region	231	327	N/A	INTRINSIC
Pfam:DUF3496	381	488	1.6e-45	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ank2	G	C	3: 126,736,683 (GRCm39)	T3067S	unknown	Het
Ankrd28	T	C	14: 31,500,886 (GRCm39)	N35S	probably benign	Het
Bicra	A	T	7: 15,713,060 (GRCm39)	S996T	possibly damaging	Het
Btbd7	T	C	12: 102,803,981 (GRCm39)	E353G	possibly damaging	Het
Cdhr2	A	T	13: 54,874,552 (GRCm39)	I875F	probably damaging	Het
Ceacam5	A	T	7: 17,494,764 (GRCm39)	Y924F	probably damaging	Het
Clca4b	A	G	3: 144,628,621 (GRCm39)	I362T	probably benign	Het
Dchs2	A	G	3: 83,253,462 (GRCm39)		probably null	Het
Dlc1	T	A	8: 37,405,118 (GRCm39)	T224S	unknown	Het
Dmxl2	T	C	9: 54,273,916 (GRCm39)		probably null	Het
Dnajc1	A	G	2: 18,313,710 (GRCm39)	F137S	probably damaging	Het
E130311K13Rik	T	C	3: 63,836,722 (GRCm39)	T24A	probably benign	Het
Eya1	T	C	1: 14,301,638 (GRCm39)	E317G	probably null	Het
Fpr-rs6	A	G	17: 20,402,485 (GRCm39)	L292P	probably damaging	Het
Gca	G	T	2: 62,502,753 (GRCm39)	D54Y	possibly damaging	Het
Gm45861	G	A	8: 28,024,517 (GRCm39)		probably null	Het
Gtf2a1l	A	G	17: 89,001,566 (GRCm39)	T141A	possibly damaging	Het
Hgsnat	T	C	8: 26,447,241 (GRCm39)	N351S	probably benign	Het
Htr1f	A	T	16: 64,746,383 (GRCm39)	V303E	probably damaging	Het
Iars2	C	A	1: 185,055,063 (GRCm39)	W302L	probably damaging	Het
Igkv4-74	T	A	6: 69,162,100 (GRCm39)	Q23L	possibly damaging	Het
Il18	A	T	9: 50,476,673 (GRCm39)		probably benign	Het
Ints4	A	G	7: 97,155,335 (GRCm39)	D329G	probably benign	Het
Itsn1	T	C	16: 91,650,073 (GRCm39)	F249S	possibly damaging	Het
Ktn1	A	G	14: 47,932,089 (GRCm39)	E672G	probably null	Het
Lhx6	A	G	2: 35,974,083 (GRCm39)	I359T	possibly damaging	Het
Lrp1b	T	C	2: 41,003,041 (GRCm39)	E2030G		Het
Macf1	T	A	4: 123,386,556 (GRCm39)	K1114N	probably damaging	Het
Mbd5	A	G	2: 49,147,892 (GRCm39)	M701V	possibly damaging	Het
Mcemp1	A	T	8: 3,717,065 (GRCm39)	M69L	probably benign	Het
Mfsd4b2	T	A	10: 39,797,877 (GRCm39)	K159N	probably benign	Het
Mroh2b	T	A	15: 4,938,109 (GRCm39)	D243E	probably damaging	Het
Muc21	T	C	17: 35,931,568 (GRCm39)	S873G	unknown	Het
Mug1	A	T	6: 121,852,399 (GRCm39)	Q829L	probably benign	Het
Nav3	A	T	10: 109,659,439 (GRCm39)	V726E	probably damaging	Het
Nfib	T	C	4: 82,271,826 (GRCm39)	Q247R	probably benign	Het
Npbwr1	T	C	1: 5,987,151 (GRCm39)	N121S	probably damaging	Het
Or1e19	T	C	11: 73,316,296 (GRCm39)	D171G	probably benign	Het
Or52b2	T	A	7: 104,986,707 (GRCm39)	D72V	probably damaging	Het
Or5h19	A	T	16: 58,856,379 (GRCm39)	C240*	probably null	Het
Pkd1l3	A	G	8: 110,355,409 (GRCm39)	S726G	probably benign	Het
Ppip5k1	A	T	2: 121,167,232 (GRCm39)	V847D	probably damaging	Het
Ptpn18	G	A	1: 34,512,445 (GRCm39)	D417N	possibly damaging	Het
Ripor2	G	A	13: 24,880,290 (GRCm39)	V385M	unknown	Het
Rufy1	C	T	11: 50,298,655 (GRCm39)	V379M	possibly damaging	Het
S100a5	A	G	3: 90,517,207 (GRCm39)	K26R	probably damaging	Het
Sin3a	T	C	9: 57,002,809 (GRCm39)	S234P	probably benign	Het
Sirt7	G	A	11: 120,511,618 (GRCm39)	T225I	probably benign	Het
Slc34a1	A	T	13: 24,006,401 (GRCm39)	T476S	probably damaging	Het
Slc38a6	T	A	12: 73,397,351 (GRCm39)	M331K	probably benign	Het
Spam1	T	C	6: 24,796,907 (GRCm39)	I286T	probably damaging	Het
Syne1	T	A	10: 5,002,793 (GRCm39)	I214F	possibly damaging	Het
Tmtc1	A	G	6: 148,226,643 (GRCm39)	L427P	probably damaging	Het
Tpbg	G	A	9: 85,726,903 (GRCm39)	A291T	possibly damaging	Het
Zfp40	A	G	17: 23,397,362 (GRCm39)	F45S	possibly damaging	Het
Zfp451	C	T	1: 33,816,094 (GRCm39)	V619M	probably damaging	Het
Zim1	A	G	7: 6,680,811 (GRCm39)	L284P	probably damaging	Het
Zkscan4	A	G	13: 21,668,044 (GRCm39)	E165G	probably benign	Het
Zmynd11	T	A	13: 9,748,720 (GRCm39)	N154Y	probably benign	Het
Zscan12	A	T	13: 21,553,457 (GRCm39)	H427L	possibly damaging	Het

Other mutations in Gm57858

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00570:Gm57858	APN	3	36,074,138 (GRCm39)	missense	probably damaging	1.00
IGL00773:Gm57858	APN	3	36,089,486 (GRCm39)	missense	probably damaging	1.00
IGL01409:Gm57858	APN	3	36,080,077 (GRCm39)	missense	possibly damaging	0.77
IGL01791:Gm57858	APN	3	36,089,416 (GRCm39)	critical splice donor site	probably benign	0.00
IGL02307:Gm57858	APN	3	36,073,016 (GRCm39)	missense	possibly damaging	0.95
IGL02374:Gm57858	APN	3	36,074,108 (GRCm39)	missense	possibly damaging	0.83
IGL02673:Gm57858	APN	3	36,100,848 (GRCm39)	splice site	probably benign
IGL02727:Gm57858	APN	3	36,087,065 (GRCm39)	missense	possibly damaging	0.66
R0355:Gm57858	UTSW	3	36,101,054 (GRCm39)	splice site	probably benign
R0833:Gm57858	UTSW	3	36,074,362 (GRCm39)	splice site	probably benign
R0928:Gm57858	UTSW	3	36,079,515 (GRCm39)	missense	possibly damaging	0.83
R1595:Gm57858	UTSW	3	36,073,146 (GRCm39)	missense	probably damaging	0.99
R1598:Gm57858	UTSW	3	36,073,146 (GRCm39)	missense	probably damaging	0.99
R2011:Gm57858	UTSW	3	36,064,827 (GRCm39)	nonsense	probably null
R2255:Gm57858	UTSW	3	36,074,099 (GRCm39)	missense	probably benign	0.00
R2921:Gm57858	UTSW	3	36,080,077 (GRCm39)	missense	probably null	0.01
R4659:Gm57858	UTSW	3	36,080,103 (GRCm39)	missense	possibly damaging	0.90
R4764:Gm57858	UTSW	3	36,064,809 (GRCm39)	makesense	probably null
R4929:Gm57858	UTSW	3	36,089,487 (GRCm39)	missense	probably damaging	0.99
R5631:Gm57858	UTSW	3	36,101,026 (GRCm39)	missense	probably damaging	0.99
R5755:Gm57858	UTSW	3	36,071,842 (GRCm39)	missense	probably benign
R5849:Gm57858	UTSW	3	36,087,026 (GRCm39)	missense	possibly damaging	0.81
R5894:Gm57858	UTSW	3	36,074,124 (GRCm39)	missense	possibly damaging	0.91
R5968:Gm57858	UTSW	3	36,064,840 (GRCm39)	missense	probably benign	0.00
R6961:Gm57858	UTSW	3	36,104,766 (GRCm39)	missense	possibly damaging	0.66
R6963:Gm57858	UTSW	3	36,104,811 (GRCm39)	missense	probably benign	0.30
R7248:Gm57858	UTSW	3	36,080,086 (GRCm39)	missense	probably benign	0.00
R7380:Gm57858	UTSW	3	36,080,070 (GRCm39)	missense	possibly damaging	0.68
R7612:Gm57858	UTSW	3	36,079,506 (GRCm39)	missense	possibly damaging	0.79
R7637:Gm57858	UTSW	3	36,101,025 (GRCm39)	missense	probably damaging	0.98
R8025:Gm57858	UTSW	3	36,073,136 (GRCm39)	missense	probably damaging	0.97
R8269:Gm57858	UTSW	3	36,100,862 (GRCm39)	missense	possibly damaging	0.89
R8707:Gm57858	UTSW	3	36,073,070 (GRCm39)	missense	probably damaging	1.00
R8731:Gm57858	UTSW	3	36,089,434 (GRCm39)	missense	probably benign	0.14
R9047:Gm57858	UTSW	3	36,087,033 (GRCm39)	missense	probably benign	0.32
R9108:Gm57858	UTSW	3	36,080,036 (GRCm39)	makesense	probably null
R9193:Gm57858	UTSW	3	36,089,428 (GRCm39)	missense	probably benign	0.14
R9321:Gm57858	UTSW	3	36,073,139 (GRCm39)	missense	probably damaging	0.98
R9447:Gm57858	UTSW	3	36,074,195 (GRCm39)	missense	possibly damaging	0.83
R9694:Gm57858	UTSW	3	36,073,092 (GRCm39)	missense	possibly damaging	0.66
X0011:Gm57858	UTSW	3	36,080,097 (GRCm39)	missense	possibly damaging	0.66
X0057:Gm57858	UTSW	3	36,073,050 (GRCm39)	nonsense	probably null
Z1176:Gm57858	UTSW	3	36,073,037 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- TACCCCAAGCCTAAATCGTG -3'
(R):5'- ATCTATGCATAGTCTTTGGTGAAGG -3'

Sequencing Primer
(F):5'- AAGCCTAAATCGTGGCTCC -3'
(R):5'- GTGAAGGGTTCCTGTATCCAC -3'

Posted On

2019-11-22