Mutagenetix > Incidental Mutation

Incidental Mutation 'R8390:Gm14399'

647314

Institutional Source

Beutler Lab

Gene Symbol

Gm14399

Ensembl Gene

ENSMUSG00000090093

Gene Name

predicted gene 14399

Synonyms

MMRRC Submission

067755-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R8390 (G1)

Quality Score

135.008

Status

Not validated

Chromosome

Chromosomal Location

174971286-174983805 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 174972605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 383 (Y383*)

Ref Sequence

ENSEMBL: ENSMUSP00000104688 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099029] [ENSMUST00000108929] [ENSMUST00000109059] [ENSMUST00000109060] [ENSMUST00000109062]

AlphaFold

A2ARW8

Predicted Effect

probably benign
Transcript: ENSMUST00000099029

SMART Domains

Protein: ENSMUSP00000096627
Gene: ENSMUSG00000090093

Domain	Start	End	E-Value	Type
KRAB	3	63	1.37e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108929

SMART Domains

Protein: ENSMUSP00000104557
Gene: ENSMUSG00000090093

Domain	Start	End	E-Value	Type
ZnF_C2H2	46	65	1.61e2	SMART
ZnF_C2H2	71	93	4.17e-3	SMART
ZnF_C2H2	99	121	3.83e-2	SMART
ZnF_C2H2	127	149	8.6e-5	SMART
ZnF_C2H2	155	177	1.69e-3	SMART
ZnF_C2H2	183	205	7.37e-4	SMART
ZnF_C2H2	211	233	4.94e-5	SMART
ZnF_C2H2	239	261	1.12e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109059

SMART Domains

Protein: ENSMUSP00000104687
Gene: ENSMUSG00000090093

Domain	Start	End	E-Value	Type
KRAB	4	64	1.37e-12	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000109060
AA Change: Y383*

SMART Domains

Protein: ENSMUSP00000104688
Gene: ENSMUSG00000090093
AA Change: Y383*

Domain	Start	End	E-Value	Type
KRAB	4	66	1.84e-13	SMART
ZnF_C2H2	78	97	1.61e2	SMART
ZnF_C2H2	103	125	4.17e-3	SMART
ZnF_C2H2	131	153	3.83e-2	SMART
ZnF_C2H2	159	181	8.6e-5	SMART
ZnF_C2H2	187	209	4.17e-3	SMART
ZnF_C2H2	215	237	6.08e-5	SMART
ZnF_C2H2	243	265	5.99e-4	SMART
ZnF_C2H2	271	293	8.02e-5	SMART
ZnF_C2H2	299	321	3.83e-2	SMART
ZnF_C2H2	327	349	5.14e-3	SMART
ZnF_C2H2	355	377	5.14e-3	SMART
ZnF_C2H2	383	405	9.08e-4	SMART
ZnF_C2H2	411	433	1.69e-3	SMART
ZnF_C2H2	439	461	7.37e-4	SMART
ZnF_C2H2	467	489	9.08e-4	SMART
ZnF_C2H2	495	517	2.57e-3	SMART
ZnF_C2H2	523	545	7.78e-3	SMART
ZnF_C2H2	551	573	4.94e-5	SMART
ZnF_C2H2	579	601	1.12e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109062

SMART Domains

Protein: ENSMUSP00000104690
Gene: ENSMUSG00000090093

Domain	Start	End	E-Value	Type
KRAB	4	66	1.27e-16	SMART
low complexity region	80	91	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	T	5: 113,830,841 (GRCm39)	F50I	unknown	Het
Abca9	A	T	11: 110,036,456 (GRCm39)	M551K	probably benign	Het
Adgrl3	T	C	5: 81,914,057 (GRCm39)	S1145P	probably damaging	Het
Brix1	C	T	15: 10,485,954 (GRCm39)	R9H	probably benign	Het
C1d	T	C	11: 17,213,993 (GRCm39)	V83A	probably damaging	Het
Ciz1	G	T	2: 32,257,335 (GRCm39)	V127L	probably benign	Het
Csnk1g3	A	T	18: 54,081,150 (GRCm39)	T374S	probably benign	Het
Elavl1	T	A	8: 4,339,623 (GRCm39)	K320*	probably null	Het
Foxn3	T	A	12: 99,355,000 (GRCm39)	M55L	probably benign	Het
H2-M10.5	T	A	17: 37,085,487 (GRCm39)	H215Q	probably benign	Het
Hsd17b13	C	A	5: 104,120,512 (GRCm39)	C80F	probably damaging	Het
Ifi206	G	T	1: 173,308,511 (GRCm39)	T495N		Het
Ifi207	GTT	GT	1: 173,557,016 (GRCm39)		probably null	Het
Ipo13	A	T	4: 117,769,534 (GRCm39)	I86N	probably damaging	Het
Iqcf3	T	G	9: 106,438,175 (GRCm39)	E16A	unknown	Het
Kcnh5	T	A	12: 75,134,532 (GRCm39)	D339V	probably damaging	Het
Lmbr1	C	T	5: 29,440,040 (GRCm39)	M441I	probably benign	Het
Me3	G	T	7: 89,498,803 (GRCm39)	G461V	probably damaging	Het
Mepce	A	G	5: 137,783,441 (GRCm39)	L295P	possibly damaging	Het
Mtpap	T	A	18: 4,396,141 (GRCm39)	Y478N	probably damaging	Het
Myl12a	T	C	17: 71,303,231 (GRCm39)	M74V	probably benign	Het
Neil3	A	T	8: 54,062,559 (GRCm39)	M99K	probably damaging	Het
Nlrp3	A	G	11: 59,442,616 (GRCm39)	T723A	possibly damaging	Het
Obscn	A	T	11: 58,892,870 (GRCm39)	I6792N	probably benign	Het
Or13a19	G	T	7: 139,903,027 (GRCm39)	W138C	possibly damaging	Het
Or2d2	A	G	7: 106,728,522 (GRCm39)	L26P	probably benign	Het
Or5al7	A	G	2: 85,993,266 (GRCm39)	V9A	possibly damaging	Het
Or8b49	T	A	9: 38,505,887 (GRCm39)	Y123*	probably null	Het
Or8h10	G	A	2: 86,808,501 (GRCm39)	T213I	probably benign	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Pitx2	C	A	3: 129,012,507 (GRCm39)	N312K	probably damaging	Het
Pot1b	C	A	17: 55,999,739 (GRCm39)	V229L	probably benign	Het
Psmd1	A	G	1: 86,006,329 (GRCm39)	I232V	possibly damaging	Het
Rif1	A	G	2: 52,000,935 (GRCm39)	E1463G	probably damaging	Het
Scn5a	T	A	9: 119,368,604 (GRCm39)	Y307F	possibly damaging	Het
Shprh	G	A	10: 11,063,727 (GRCm39)	E1267K	possibly damaging	Het
Smtnl1	A	T	2: 84,645,694 (GRCm39)	Y392*	probably null	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Sspo	G	A	6: 48,444,896 (GRCm39)	G2268R	probably benign	Het
Tex47	G	A	5: 7,355,301 (GRCm39)	E161K	probably benign	Het
Timd6	G	T	11: 46,468,082 (GRCm39)	R52L	probably damaging	Het
Tmem236	T	C	2: 14,224,168 (GRCm39)	L319P	probably damaging	Het
Tnk1	T	C	11: 69,742,695 (GRCm39)	T606A	possibly damaging	Het
Tnrc6a	A	G	7: 122,761,794 (GRCm39)	T81A	probably damaging	Het
Trav6d-4	A	T	14: 52,991,092 (GRCm39)	T46S	probably benign	Het
Wdr19	T	A	5: 65,381,210 (GRCm39)	Y411*	probably null	Het
Zfp553	A	G	7: 126,835,476 (GRCm39)	T344A	probably damaging	Het
Zfp62	G	A	11: 49,106,019 (GRCm39)	G37S	probably benign	Het

Other mutations in Gm14399

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00418:Gm14399	APN	2	174,973,315 (GRCm39)	nonsense	probably null
R2185:Gm14399	UTSW	2	174,973,188 (GRCm39)	missense	probably damaging	1.00
R3711:Gm14399	UTSW	2	174,973,303 (GRCm39)	nonsense	probably null
R4907:Gm14399	UTSW	2	174,973,182 (GRCm39)	intron	probably benign
R5361:Gm14399	UTSW	2	174,973,371 (GRCm39)	missense	probably damaging	1.00
R7252:Gm14399	UTSW	2	174,974,991 (GRCm39)	missense	probably damaging	0.98
R7278:Gm14399	UTSW	2	174,972,252 (GRCm39)	intron	probably benign
R7289:Gm14399	UTSW	2	174,972,204 (GRCm39)	missense	unknown
R7946:Gm14399	UTSW	2	174,973,273 (GRCm39)	missense	probably damaging	1.00
RF051:Gm14399	UTSW	2	174,972,994 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCAAAGGCTTTACCACATTGTTTAC -3'
(R):5'- AAAAGCCTTTGCAAGAAGTGGT -3'

Sequencing Primer
(F):5'- CCACATTGGTTACATTCATAGGG -3'
(R):5'- GTGGTAAAGCCTTTGCACATAGC -3'

Posted On

2020-09-02