Mutagenetix > Incidental Mutation

Incidental Mutation 'R5660:Gm14401'

444020

Institutional Source

Beutler Lab

Gene Symbol

Gm14401

Ensembl Gene

ENSMUSG00000078872

Gene Name

predicted gene 14401

Synonyms

MMRRC Submission

043173-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

R5660 (G1)

Quality Score

177

Status

Not validated

Chromosome

Chromosomal Location

176778122-176779598 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 176778224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 103 (H103Q)

Ref Sequence

ENSEMBL: ENSMUSP00000119549 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108968] [ENSMUST00000108970] [ENSMUST00000134614]

AlphaFold

A2ARV7

Predicted Effect

probably benign
Transcript: ENSMUST00000108968

SMART Domains

Protein: ENSMUSP00000104596
Gene: ENSMUSG00000078872

Domain	Start	End	E-Value	Type
KRAB	4	64	1.21e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000108969

Predicted Effect

probably damaging
Transcript: ENSMUST00000108970
AA Change: H103Q

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104598
Gene: ENSMUSG00000078872
AA Change: H103Q

Domain	Start	End	E-Value	Type
KRAB	4	66	9.34e-15	SMART
Pfam:zf-C2H2_4	69	98	4.5e-2	PFAM
ZnF_C2H2	103	125	2.09e-3	SMART
ZnF_C2H2	131	153	6.88e-4	SMART
ZnF_C2H2	159	181	5.9e-3	SMART
ZnF_C2H2	187	209	4.01e-5	SMART
ZnF_C2H2	215	237	2.91e-2	SMART
ZnF_C2H2	243	265	1.21e2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121260

Predicted Effect

probably damaging
Transcript: ENSMUST00000134614
AA Change: H103Q

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119549
Gene: ENSMUSG00000078872
AA Change: H103Q

Domain	Start	End	E-Value	Type
KRAB	4	66	9.34e-15	SMART
ZnF_C2H2	103	125	2.09e-3	SMART
ZnF_C2H2	131	153	6.88e-4	SMART
ZnF_C2H2	159	181	5.9e-3	SMART
ZnF_C2H2	187	209	4.01e-5	SMART
ZnF_C2H2	215	237	2.91e-2	SMART
ZnF_C2H2	243	265	1.21e2	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,757,828 (GRCm39)	N1307S	probably benign	Het
Abcf1	A	T	17: 36,274,539 (GRCm39)	D41E	possibly damaging	Het
Adamts13	T	C	2: 26,886,761 (GRCm39)	V966A	probably benign	Het
Adamts2	A	T	11: 50,667,472 (GRCm39)	D470V	probably damaging	Het
Adar	T	C	3: 89,642,901 (GRCm39)	F261L	probably damaging	Het
Akap3	C	T	6: 126,842,254 (GRCm39)	A291V	probably damaging	Het
Akr1c6	G	A	13: 4,499,053 (GRCm39)	V214I	probably benign	Het
Ano5	G	A	7: 51,233,562 (GRCm39)	R658H	possibly damaging	Het
Arhgap11a	T	A	2: 113,672,255 (GRCm39)	I238F	possibly damaging	Het
Atg2b	A	T	12: 105,615,383 (GRCm39)	Y1024*	probably null	Het
Cad	T	A	5: 31,234,191 (GRCm39)	D1956E	probably damaging	Het
Cbs	A	T	17: 31,843,220 (GRCm39)	I237N	probably damaging	Het
Ccdc81	T	C	7: 89,542,337 (GRCm39)	T180A	probably benign	Het
Cftr	T	A	6: 18,313,686 (GRCm39)	N1303K	probably benign	Het
Col6a4	A	G	9: 105,873,315 (GRCm39)	S2227P	probably benign	Het
Crebbp	A	T	16: 3,972,722 (GRCm39)	M324K	possibly damaging	Het
Dst	A	G	1: 34,321,574 (GRCm39)	K4363R	probably damaging	Het
Eif2b4	A	T	5: 31,348,500 (GRCm39)	Y238N	probably benign	Het
Fam83c	G	A	2: 155,671,509 (GRCm39)	A642V	probably benign	Het
Fat2	T	A	11: 55,175,002 (GRCm39)	T1904S	probably benign	Het
Flt3	T	C	5: 147,306,291 (GRCm39)	N279S	possibly damaging	Het
Galnt4	A	G	10: 98,945,397 (GRCm39)	N374S	probably benign	Het
Gm5422	A	T	10: 31,126,048 (GRCm39)		noncoding transcript	Het
Helb	G	A	10: 119,946,984 (GRCm39)	Q110*	probably null	Het
Ido1	T	C	8: 25,081,558 (GRCm39)	D41G	probably damaging	Het
Igfn1	A	G	1: 135,898,152 (GRCm39)	S805P	probably benign	Het
Matr3	C	A	18: 35,705,147 (GRCm39)	A24E	probably damaging	Het
Mmp23	C	T	4: 155,735,710 (GRCm39)	C287Y	probably damaging	Het
Mrnip	A	G	11: 50,087,918 (GRCm39)	R147G	probably null	Het
Msh6	A	G	17: 88,292,147 (GRCm39)	K301E	possibly damaging	Het
Or12d13	A	G	17: 37,647,535 (GRCm39)	L196P	probably damaging	Het
Or8g4	G	A	9: 39,662,063 (GRCm39)	C127Y	probably damaging	Het
Ptar1	T	A	19: 23,671,776 (GRCm39)	C60S	probably benign	Het
Rora	A	G	9: 68,561,203 (GRCm39)	S11G	probably benign	Het
Rps6ka5	G	T	12: 100,585,839 (GRCm39)	H151Q	possibly damaging	Het
Sgsh	A	G	11: 119,241,807 (GRCm39)	S100P	probably damaging	Het
Simc1	A	G	13: 54,694,902 (GRCm39)	T1229A	probably benign	Het
Slc26a11	T	C	11: 119,248,804 (GRCm39)	Y62H	probably damaging	Het
Slc5a8	C	T	10: 88,755,290 (GRCm39)	L466F	possibly damaging	Het
Smg1	C	T	7: 117,742,570 (GRCm39)	V3215I	probably benign	Het
Smyd2	G	A	1: 189,617,579 (GRCm39)	P285L	possibly damaging	Het
Themis2	T	C	4: 132,523,567 (GRCm39)		probably null	Het
Tln1	A	G	4: 43,547,732 (GRCm39)	V743A	probably damaging	Het
Tpo	T	A	12: 30,150,495 (GRCm39)	N462Y	possibly damaging	Het
Wnt2	T	A	6: 18,028,145 (GRCm39)	M30L	probably benign	Het
Zfyve9	T	C	4: 108,576,365 (GRCm39)	I239V	probably benign	Het

Other mutations in Gm14401

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01017:Gm14401	APN	2	176,778,625 (GRCm39)	missense	probably damaging	1.00
FR4548:Gm14401	UTSW	2	176,778,661 (GRCm39)	missense	probably benign
R1289:Gm14401	UTSW	2	176,778,789 (GRCm39)	missense	possibly damaging	0.76
R3967:Gm14401	UTSW	2	176,778,789 (GRCm39)	missense	possibly damaging	0.76
R3968:Gm14401	UTSW	2	176,778,789 (GRCm39)	missense	possibly damaging	0.76
R3970:Gm14401	UTSW	2	176,778,789 (GRCm39)	missense	possibly damaging	0.76
R4476:Gm14401	UTSW	2	176,778,570 (GRCm39)	nonsense	probably null
R4627:Gm14401	UTSW	2	176,778,109 (GRCm39)	missense	probably benign
R4897:Gm14401	UTSW	2	176,778,573 (GRCm39)	missense	probably damaging	1.00
R5245:Gm14401	UTSW	2	176,778,471 (GRCm39)	missense	probably damaging	0.99
R5834:Gm14401	UTSW	2	176,778,696 (GRCm39)	missense	probably benign	0.25
R8025:Gm14401	UTSW	2	176,778,249 (GRCm39)	missense	probably damaging	1.00
R9499:Gm14401	UTSW	2	176,778,337 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- CTGTTCCCATTTCATATATCCTCGAAG -3'
(R):5'- AAGGCTTTTCCACATTGGTTACAT -3'

Sequencing Primer
(F):5'- cctcgaagatgtaaaacaatt -3'
(R):5'- GTGCAAAGGCTTTACCACATTG -3'

Posted On

2016-11-09