Mutagenetix > Incidental Mutation

Incidental Mutation 'R1598:Gm57858'

175930

Institutional Source

Beutler Lab

Gene Symbol

Gm57858

Ensembl Gene

ENSMUSG00000047696

Gene Name

gene model 57858

Synonyms

Ccdc144b

MMRRC Submission

039635-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R1598 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36061396-36107696 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36073146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 379 (A379T)

Ref Sequence

ENSEMBL: ENSMUSP00000142910 (fasta)

Gene Model

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

AlphaFold

E9PVZ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000062056
AA Change: A379T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000058450
Gene: ENSMUSG00000047696
AA Change: A379T

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	382	485	4.1e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124469

Predicted Effect

probably damaging
Transcript: ENSMUST00000166644
AA Change: A379T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132995
Gene: ENSMUSG00000047696
AA Change: A379T

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

probably benign
Transcript: ENSMUST00000196964

SMART Domains

Protein: ENSMUSP00000142406
Gene: ENSMUSG00000047696

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 damaging
Transcript: ENSMUST00000200469
AA Change: A379T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142910
Gene: ENSMUSG00000047696
AA Change: A379T

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

0.1142

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.7%
20x: 90.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730455P16Rik	G	A	11: 80,254,838 (GRCm39)	Q328*	probably null	Het
Aadacl4fm4	T	A	4: 144,396,994 (GRCm39)	K246I	possibly damaging	Het
Adamts1	G	A	16: 85,595,399 (GRCm39)	Q260*	probably null	Het
Add2	A	T	6: 86,075,628 (GRCm39)	Y259F	probably benign	Het
Bora	T	C	14: 99,305,840 (GRCm39)	V403A	probably benign	Het
Ccnl1	G	A	3: 65,854,191 (GRCm39)	R477W	probably damaging	Het
Cdc25a	CG	CGG	9: 109,708,961 (GRCm39)		probably null	Het
Cdr2l	T	C	11: 115,284,203 (GRCm39)	S180P	probably damaging	Het
Cep290	T	A	10: 100,385,191 (GRCm39)	L1889Q	probably damaging	Het
Ces4a	T	C	8: 105,869,453 (GRCm39)	V208A	probably damaging	Het
Col2a1	T	C	15: 97,877,131 (GRCm39)	D1049G	probably damaging	Het
Coro1a	A	T	7: 126,300,864 (GRCm39)	N154K	possibly damaging	Het
Cubn	T	A	2: 13,474,600 (GRCm39)	R401S	probably benign	Het
Cul7	A	T	17: 46,974,017 (GRCm39)	Q1434L	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dars1	G	T	1: 128,301,709 (GRCm39)	D308E	probably benign	Het
Dna2	T	A	10: 62,797,436 (GRCm39)	F604I	probably damaging	Het
Dnah1	T	G	14: 31,023,219 (GRCm39)	I1033L	probably benign	Het
Erlin1	T	C	19: 44,036,112 (GRCm39)	E206G	probably damaging	Het
Esrp2	T	A	8: 106,859,905 (GRCm39)	E345D	probably damaging	Het
Foxa1	T	C	12: 57,589,473 (GRCm39)	D249G	possibly damaging	Het
Ghsr	C	A	3: 27,426,426 (GRCm39)	L161M	probably benign	Het
Gpr155	C	A	2: 73,200,434 (GRCm39)	V358F	probably damaging	Het
H2-Eb2	A	T	17: 34,553,348 (GRCm39)	N178I	probably damaging	Het
Hydin	T	A	8: 111,137,306 (GRCm39)	I703N	possibly damaging	Het
Kctd15	A	G	7: 34,341,417 (GRCm39)	V170A	probably damaging	Het
Klhl31	A	T	9: 77,558,298 (GRCm39)	Y338F	possibly damaging	Het
Krt5	C	T	15: 101,620,876 (GRCm39)	A124T	probably benign	Het
Krt72	T	A	15: 101,688,688 (GRCm39)	I331F	probably benign	Het
Lrp1b	T	A	2: 41,401,490 (GRCm39)	D388V	probably damaging	Het
Ly9	A	G	1: 171,424,075 (GRCm39)	V382A	probably benign	Het
Mon2	T	C	10: 122,852,301 (GRCm39)	Y1024C	probably damaging	Het
Myh14	A	G	7: 44,287,818 (GRCm39)	F572L	probably damaging	Het
Myh3	A	T	11: 66,983,997 (GRCm39)	D987V	probably damaging	Het
Ndn	C	T	7: 61,998,256 (GRCm39)	P34L	probably benign	Het
Nphp4	A	G	4: 152,646,547 (GRCm39)	T1360A	probably benign	Het
Oog4	A	G	4: 143,164,571 (GRCm39)	L320P	probably damaging	Het
Or4k49	G	T	2: 111,495,099 (GRCm39)	S176I	probably damaging	Het
Or5m9	C	T	2: 85,877,657 (GRCm39)	T277I	probably damaging	Het
Or5w8	T	A	2: 87,688,095 (GRCm39)	I192K	probably benign	Het
Pcnx2	T	C	8: 126,498,825 (GRCm39)	N1558S	probably benign	Het
Pde10a	A	G	17: 9,147,976 (GRCm39)	E147G	probably damaging	Het
Pgbd5	T	A	8: 125,101,026 (GRCm39)	H410L	probably benign	Het
Plce1	A	C	19: 38,709,440 (GRCm39)	D1098A	probably damaging	Het
Psg25	G	A	7: 18,265,928 (GRCm39)	Q16*	probably null	Het
Psmd9	T	A	5: 123,379,980 (GRCm39)	V133E	probably damaging	Het
Rabgap1	C	T	2: 37,451,911 (GRCm39)	S937F	probably damaging	Het
Rbck1	A	G	2: 152,165,090 (GRCm39)		probably null	Het
Rprd2	C	G	3: 95,726,051 (GRCm39)		probably benign	Het
Rrs1	A	G	1: 9,616,137 (GRCm39)	N130S	probably benign	Het
Scmh1	A	T	4: 120,372,327 (GRCm39)	I377F	possibly damaging	Het
Skor1	G	T	9: 63,053,286 (GRCm39)	R228S	probably damaging	Het
Slc2a4	A	G	11: 69,835,844 (GRCm39)	V335A	probably benign	Het
Slc4a9	G	A	18: 36,661,424 (GRCm39)	W62*	probably null	Het
Styxl2	G	A	1: 165,937,828 (GRCm39)	T77I	probably benign	Het
Taar9	G	T	10: 23,985,305 (GRCm39)	A43D	possibly damaging	Het
Tns4	T	C	11: 98,961,243 (GRCm39)	Y645C	probably damaging	Het
Tpcn2	G	T	7: 144,830,957 (GRCm39)	Y129*	probably null	Het
Trpm3	T	C	19: 22,710,388 (GRCm39)	S278P	possibly damaging	Het
Ttc3	T	C	16: 94,223,156 (GRCm39)	W615R	probably damaging	Het
Ttll5	T	C	12: 85,910,372 (GRCm39)	V207A	probably damaging	Het
Ubr7	G	T	12: 102,736,153 (GRCm39)	M358I	probably damaging	Het
Urb1	C	A	16: 90,574,328 (GRCm39)	V918F	possibly damaging	Het
Vmn2r51	G	A	7: 9,839,432 (GRCm39)	T52I	probably benign	Het
Vmn2r95	A	T	17: 18,672,575 (GRCm39)	I771F	probably benign	Het
Wfdc16	T	C	2: 164,477,350 (GRCm39)	S107G	probably benign	Het
Zmym2	A	G	14: 57,140,226 (GRCm39)	T22A	possibly damaging	Het
Zmym2	G	A	14: 57,151,524 (GRCm39)	G470R	probably 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
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
R7462:Gm57858	UTSW	3	36,080,055 (GRCm39)	splice site	probably null
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'- TCTGGGGACAGAACACTGAGCC -3'
(R):5'- GTTTGAGCTTCAGCACCACACAC -3'

Sequencing Primer
(F):5'- GACAGAACACTGAGCCTAGTTTATC -3'
(R):5'- CAAGTTTAACATAACTCGCATCAAGG -3'

Posted On

2014-04-24