Mutagenetix > Incidental Mutation

Incidental Mutation 'R9193:Gm57858'

697790

Institutional Source

Beutler Lab

Gene Symbol

Gm57858

Ensembl Gene

ENSMUSG00000047696

Gene Name

gene model 57858

Synonyms

Ccdc144b

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9193 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36061396-36107696 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 36089428 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 165 (N165K)

Ref Sequence

ENSEMBL: ENSMUSP00000142910 (fasta)

Gene Model

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

AlphaFold

E9PVZ3

Predicted Effect

probably benign
Transcript: ENSMUST00000166644
AA Change: N165K

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000132995
Gene: ENSMUSG00000047696
AA Change: N165K

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 damaging
Transcript: ENSMUST00000196964
AA Change: N165K

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142406
Gene: ENSMUSG00000047696
AA Change: N165K

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 benign
Transcript: ENSMUST00000200469
AA Change: N165K

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000142910
Gene: ENSMUSG00000047696
AA Change: N165K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak1	A	T	2: 32,520,391 (GRCm39)	K79M	probably benign	Het
Amy1	T	C	3: 113,356,278 (GRCm39)	K293E	probably benign	Het
Bcl2l10	A	G	9: 75,255,333 (GRCm39)	Q50R	probably benign	Het
Bpifa6	G	A	2: 153,826,740 (GRCm39)	G35D	probably benign	Het
Cachd1	C	A	4: 100,634,339 (GRCm39)	P5Q	unknown	Het
Capn13	A	T	17: 73,652,191 (GRCm39)	I266N	probably damaging	Het
Chil3	A	G	3: 106,063,081 (GRCm39)	S170P	possibly damaging	Het
Ckap4	A	G	10: 84,363,350 (GRCm39)	I571T	probably damaging	Het
Col14a1	A	G	15: 55,242,964 (GRCm39)	M371V	unknown	Het
Dag1	A	G	9: 108,085,467 (GRCm39)	L558P	possibly damaging	Het
Edem3	G	A	1: 151,694,270 (GRCm39)	E868K	probably benign	Het
Eif3k	T	C	7: 28,673,624 (GRCm39)	Y150C	probably damaging	Het
Farp1	T	C	14: 121,518,281 (GRCm39)	I988T	probably benign	Het
Fat3	A	G	9: 15,910,248 (GRCm39)	M1918T	probably benign	Het
Gba2	A	G	4: 43,578,112 (GRCm39)	I79T	probably benign	Het
Gbp8	T	C	5: 105,179,169 (GRCm39)	D110G	probably damaging	Het
H2-M2	T	A	17: 37,793,428 (GRCm39)	M193L	probably benign	Het
H2-T13	A	G	17: 36,391,956 (GRCm39)	V39A	possibly damaging	Het
Ighv7-1	T	A	12: 113,860,110 (GRCm39)	D94V	probably damaging	Het
Il2ra	T	C	2: 11,689,202 (GRCm39)	F244L	possibly damaging	Het
Jag1	A	T	2: 136,931,764 (GRCm39)	H602Q	probably null	Het
Kidins220	A	T	12: 25,036,966 (GRCm39)	I16F	possibly damaging	Het
Klb	A	G	5: 65,529,368 (GRCm39)	T299A	possibly damaging	Het
Lama4	A	G	10: 38,951,444 (GRCm39)	K1063R	probably benign	Het
Lrit2	A	G	14: 36,794,550 (GRCm39)	E538G	possibly damaging	Het
Lrrc7	A	T	3: 158,059,011 (GRCm39)	L32*	probably null	Het
Lrrtm3	A	T	10: 63,765,883 (GRCm39)	I568N	probably damaging	Het
Myom1	A	G	17: 71,343,295 (GRCm39)	D164G	probably damaging	Het
Naaladl2	T	C	3: 23,900,742 (GRCm39)	D696G	probably damaging	Het
Nalcn	A	T	14: 123,545,792 (GRCm39)	L1073*	probably null	Het
Nid2	T	C	14: 19,853,278 (GRCm39)	S1166P	probably damaging	Het
Nlrp4c	T	C	7: 6,095,621 (GRCm39)	V833A	probably benign	Het
Nyap2	T	C	1: 81,275,712 (GRCm39)	S619P	probably damaging	Het
Or10d5j	T	C	9: 39,867,878 (GRCm39)	M118V	probably damaging	Het
Or2a20	A	T	6: 43,194,086 (GRCm39)	T80S	probably benign	Het
Or4a71	A	G	2: 89,357,987 (GRCm39)	Y256H	probably damaging	Het
Or8k16	C	A	2: 85,520,644 (GRCm39)	Y290*	probably null	Het
P3h2	T	C	16: 25,923,991 (GRCm39)	N148S	probably benign	Het
P4htm	A	G	9: 108,460,081 (GRCm39)	M231T	probably damaging	Het
Pank1	T	A	19: 34,804,634 (GRCm39)	K349I	possibly damaging	Het
Pgam5	A	G	5: 110,413,466 (GRCm39)	Y210H	probably benign	Het
Prb1b	T	C	6: 132,288,996 (GRCm39)	H276R	unknown	Het
Prl2a1	T	A	13: 27,992,535 (GRCm39)	C220S	probably damaging	Het
Psca	C	T	15: 74,587,932 (GRCm39)	Q39*	probably null	Het
Rgs20	A	T	1: 5,091,067 (GRCm39)	M121K	possibly damaging	Het
S100z	C	T	13: 95,613,883 (GRCm39)	V76M	possibly damaging	Het
Slc30a10	T	C	1: 185,195,034 (GRCm39)	I282T	probably damaging	Het
Slc30a3	T	C	5: 31,246,088 (GRCm39)	Y214C	probably damaging	Het
Sox5	C	T	6: 143,790,570 (GRCm39)	E497K	probably benign	Het
Spata31g1	A	G	4: 42,971,519 (GRCm39)	D284G	probably benign	Het
Sptbn1	C	T	11: 30,087,551 (GRCm39)	E963K	possibly damaging	Het
Srl	T	C	16: 4,311,723 (GRCm39)	E465G	possibly damaging	Het
Tacc2	T	C	7: 130,228,304 (GRCm39)	M1663T	probably benign	Het
Tas2r119	T	G	15: 32,177,932 (GRCm39)	V166G	probably benign	Het
Tcf7l1	A	G	6: 72,611,205 (GRCm39)	V191A	probably damaging	Het
Thap7	A	T	16: 17,346,901 (GRCm39)	I92K	probably damaging	Het
Tnfsf10	A	G	3: 27,371,407 (GRCm39)	T38A	possibly damaging	Het
Trav7-5	C	G	14: 53,768,615 (GRCm39)	A61G	probably benign	Het
Trim30c	C	T	7: 104,031,553 (GRCm39)	V421I	probably benign	Het
Ugt2b38	A	T	5: 87,571,729 (GRCm39)	M101K	probably benign	Het
Vmn1r44	T	A	6: 89,870,565 (GRCm39)	C104S	probably damaging	Het
Wdr74	T	A	19: 8,715,240 (GRCm39)	V133E	probably damaging	Het
Zfp735	A	T	11: 73,580,600 (GRCm39)	Y33F	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
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
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'- GGCATCTGCAATAGTGTCTGGG -3'
(R):5'- AACCAATATGTGACAAGCCAGG -3'

Sequencing Primer
(F):5'- CATCTGCAATAGTGTCTGGGTTTGG -3'
(R):5'- ACATTTTCTAACACAGTGCATTCC -3'

Posted On

2022-02-07