Mutagenetix > Incidental Mutation

Incidental Mutation 'R9435:Gm7579'

713232

Institutional Source

Beutler Lab

Gene Symbol

Gm7579

Ensembl Gene

ENSMUSG00000073786

Gene Name

predicted gene 7579

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

R9435 (G1)

Quality Score

156.475

Status

Not validated

Chromosome

Chromosomal Location

141765596-141766327 bp(+) (GRCm39)

Type of Mutation

small deletion (10 aa in frame mutation)

DNA Base Change (assembly)

GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG to GGCTGTGGCTCCTGTGGGGGCTGCAAGGGAAGCTGTGGCTCCTGTGGGGGATGCAAGGGAGGCTGTGGCTCCTGTGGGGG at 141765782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097943]

AlphaFold

A0A1B0GRJ4

Predicted Effect

probably benign
Transcript: ENSMUST00000097943

SMART Domains

Protein: ENSMUSP00000095556
Gene: ENSMUSG00000073786

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	198	242	1.8e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097943

Coding Region Coverage

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

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	T	14: 32,382,562 (GRCm39)	D1134E	probably benign	Het
Abca5	C	T	11: 110,182,911 (GRCm39)		probably null	Het
Acp2	A	G	2: 91,036,409 (GRCm39)	T169A	probably damaging	Het
Agtpbp1	A	T	13: 59,622,429 (GRCm39)	N932K	probably benign	Het
Aldh5a1	G	A	13: 25,121,293 (GRCm39)	R87C	probably damaging	Het
Bpifa1	G	T	2: 153,985,843 (GRCm39)	A53S	unknown	Het
Cacna2d2	T	C	9: 107,396,384 (GRCm39)	I667T	probably benign	Het
Catsperg1	T	A	7: 28,889,751 (GRCm39)	T784S	probably benign	Het
Ccdc93	C	T	1: 121,369,584 (GRCm39)	Q109*	probably null	Het
Cd46	C	G	1: 194,767,720 (GRCm39)	D114H	probably damaging	Het
Cd82	A	T	2: 93,267,740 (GRCm39)	L19Q	probably damaging	Het
Celsr1	T	C	15: 85,806,535 (GRCm39)		probably benign	Het
Cnksr1	A	G	4: 133,961,885 (GRCm39)	I180T	possibly damaging	Het
Drg2	T	C	11: 60,358,966 (GRCm39)	V362A	probably benign	Het
Eef2	T	A	10: 81,014,994 (GRCm39)	M231K	probably benign	Het
Egr2	T	C	10: 67,375,628 (GRCm39)	Y75H	probably damaging	Het
Exoc6	A	C	19: 37,585,545 (GRCm39)	Q473H	probably benign	Het
Focad	T	A	4: 88,267,076 (GRCm39)	M1029K	unknown	Het
Fpr-rs4	T	A	17: 18,242,391 (GRCm39)	S133T	probably benign	Het
Gbf1	T	C	19: 46,268,432 (GRCm39)	V1322A	probably benign	Het
Gm572	T	C	4: 148,752,966 (GRCm39)	S282P	possibly damaging	Het
Golph3l	T	C	3: 95,496,369 (GRCm39)	V31A	probably benign	Het
Iars2	A	T	1: 185,034,913 (GRCm39)	V610D	probably damaging	Het
Igsf6	T	A	7: 120,666,472 (GRCm39)	I203F	probably damaging	Het
Ildr2	A	G	1: 166,136,691 (GRCm39)	Y510C	probably damaging	Het
Iqcf4	C	A	9: 106,445,652 (GRCm39)	R165L	possibly damaging	Het
Itgb1bp1	T	G	12: 21,320,943 (GRCm39)	I183L	possibly damaging	Het
Itgb4	A	C	11: 115,895,855 (GRCm39)	S1414R	probably benign	Het
Kbtbd7	G	T	14: 79,664,944 (GRCm39)	A259S	probably benign	Het
Kif14	T	A	1: 136,401,174 (GRCm39)	D508E	possibly damaging	Het
Klc2	A	T	19: 5,159,662 (GRCm39)	D484E	possibly damaging	Het
Lamc2	T	C	1: 153,013,072 (GRCm39)	S630G	probably benign	Het
Myl6b	G	A	10: 128,331,066 (GRCm39)	T125M	possibly damaging	Het
Nbea	T	A	3: 55,943,309 (GRCm39)	K655N	possibly damaging	Het
Nkx3-2	T	C	5: 41,919,493 (GRCm39)	D165G	probably benign	Het
Npy	A	T	6: 49,804,481 (GRCm39)	R67S	probably damaging	Het
Nrg3	A	T	14: 39,194,556 (GRCm39)	C68S	possibly damaging	Het
Nup160	C	T	2: 90,560,138 (GRCm39)	P1288S	probably damaging	Het
Or52e15	T	C	7: 104,645,946 (GRCm39)	H55R	probably benign	Het
Or8g33	A	G	9: 39,337,506 (GRCm39)	L287P	probably benign	Het
Pam	T	A	1: 97,822,144 (GRCm39)	I287L	probably benign	Het
Phf10	T	C	17: 15,165,387 (GRCm39)	R490G	probably benign	Het
Prim2	T	C	1: 33,523,876 (GRCm39)	Y345C	probably damaging	Het
Ptchd3	C	T	11: 121,721,646 (GRCm39)	A173V	probably benign	Het
Rab8b	G	A	9: 66,755,912 (GRCm39)	R167W	probably damaging	Het
S100a3	A	G	3: 90,509,502 (GRCm39)	E49G	probably benign	Het
Slc41a1	T	A	1: 131,766,896 (GRCm39)	V138E	probably damaging	Het
Slit1	C	A	19: 41,591,764 (GRCm39)		probably null	Het
Sntg1	T	A	1: 8,433,814 (GRCm39)	H479L	probably damaging	Het
Stam	T	A	2: 14,120,801 (GRCm39)	C72S	probably damaging	Het
Sval2	G	T	6: 41,840,795 (GRCm39)	A93S	probably benign	Het
Tas2r103	T	A	6: 133,013,686 (GRCm39)	K127*	probably null	Het
Trank1	C	T	9: 111,193,890 (GRCm39)	T638M	probably benign	Het
Utrn	T	A	10: 12,519,173 (GRCm39)	I2260F	probably damaging	Het
Zfp268	G	C	4: 145,349,045 (GRCm39)	E161Q		Het
Zfp280d	T	C	9: 72,226,599 (GRCm39)		probably null	Het

Other mutations in Gm7579

Allele	Source	Chr	Coord	Type	Predicted Effect
R0332:Gm7579	UTSW	7	141,766,112 (GRCm39)	missense	unknown
R0594:Gm7579	UTSW	7	141,766,121 (GRCm39)	missense	unknown
R1605:Gm7579	UTSW	7	141,765,603 (GRCm39)	missense	unknown
R1804:Gm7579	UTSW	7	141,765,675 (GRCm39)	missense	unknown
R4860:Gm7579	UTSW	7	141,765,645 (GRCm39)	missense	unknown
R4860:Gm7579	UTSW	7	141,765,645 (GRCm39)	missense	unknown
R6249:Gm7579	UTSW	7	141,765,743 (GRCm39)	missense	unknown
R7823:Gm7579	UTSW	7	141,766,307 (GRCm39)	missense	unknown
R8143:Gm7579	UTSW	7	141,766,163 (GRCm39)	nonsense	probably null
R8341:Gm7579	UTSW	7	141,765,856 (GRCm39)	nonsense	probably null
R8543:Gm7579	UTSW	7	141,765,782 (GRCm39)	small deletion	probably benign
R9547:Gm7579	UTSW	7	141,765,736 (GRCm39)	frame shift	probably null
R9549:Gm7579	UTSW	7	141,765,736 (GRCm39)	frame shift	probably null
RF028:Gm7579	UTSW	7	141,765,782 (GRCm39)	small deletion	probably benign
Z1176:Gm7579	UTSW	7	141,765,678 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGGGCCAATCAGTCAACTAGG -3'
(R):5'- AGGGTTTGCAACAGCTGGAC -3'

Sequencing Primer
(F):5'- AGAACCATGACCTGCTGTG -3'
(R):5'- CTGGACTGACAGCAGCAG -3'

Posted On

2022-05-16