Mutagenetix > Incidental Mutation

Incidental Mutation 'R6789:Gm11569'

532943

Institutional Source

Beutler Lab

Gene Symbol

Gm11569

Ensembl Gene

ENSMUSG00000078260

Gene Name

predicted gene 11569

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

R6789 (G1)

Quality Score

189.009

Status

Not validated

Chromosome

Chromosomal Location

99688890-99689758 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 99689657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000100677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105056] [ENSMUST00000105057]

AlphaFold

B1AQB1

Predicted Effect

probably benign
Transcript: ENSMUST00000105056

SMART Domains

Protein: ENSMUSP00000100677
Gene: ENSMUSG00000078259

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	52	7.4e-9	PFAM
Pfam:Keratin_B2	1	122	3.8e-11	PFAM
Pfam:Keratin_B2_2	34	78	8.9e-14	PFAM
Pfam:Keratin_B2_2	74	117	2.5e-12	PFAM
Pfam:Keratin_B2_2	109	157	2.5e-7	PFAM
Pfam:Keratin_B2_2	149	190	5.8e-10	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000105057
AA Change: G14V

SMART Domains

Protein: ENSMUSP00000100678
Gene: ENSMUSG00000078260
AA Change: G14V

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	52	1.2e-9	PFAM
Pfam:Keratin_B2	1	79	3.8e-12	PFAM
Pfam:Keratin_B2_2	39	83	1.1e-14	PFAM
Pfam:Keratin_B2_2	79	128	3.7e-10	PFAM
Pfam:Keratin_B2_2	101	148	1.7e-9	PFAM
Pfam:Keratin_B2_2	114	158	9.9e-13	PFAM
Pfam:Keratin_B2_2	139	180	4.9e-9	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	T	A	1: 58,343,644 (GRCm39)	D442E	probably benign	Het
Arl6ip4	G	A	5: 124,254,665 (GRCm39)	G53R	probably damaging	Het
Asns	T	C	6: 7,675,344 (GRCm39)	T553A	probably benign	Het
Atp1a1	T	A	3: 101,493,614 (GRCm39)	N497Y	possibly damaging	Het
Birc2	T	C	9: 7,836,966 (GRCm39)		probably benign	Het
Catsperd	C	A	17: 56,961,426 (GRCm39)		probably null	Het
Dchs1	G	T	7: 105,406,210 (GRCm39)	Q2341K	possibly damaging	Het
Dydc2	C	A	14: 40,771,296 (GRCm39)	V128L	probably benign	Het
Dync2i2	A	G	2: 29,923,284 (GRCm39)		probably null	Het
Efna3	C	T	3: 89,223,769 (GRCm39)		probably null	Het
Fbn2	C	T	18: 58,143,686 (GRCm39)	E2790K	probably benign	Het
Fhip1a	A	T	3: 85,579,865 (GRCm39)	L780*	probably null	Het
Gprc6a	C	T	10: 51,507,412 (GRCm39)	G39D	probably damaging	Het
Igkv6-17	A	G	6: 70,348,692 (GRCm39)	D21G	probably benign	Het
Klra4	T	C	6: 130,039,182 (GRCm39)	Q70R	probably damaging	Het
Krtap31-2	C	T	11: 99,827,549 (GRCm39)	S127F	possibly damaging	Het
Lingo4	G	T	3: 94,306,662 (GRCm39)		probably benign	Het
Lrp2bp	A	G	8: 46,466,151 (GRCm39)	K87E	possibly damaging	Het
Macf1	A	T	4: 123,266,231 (GRCm39)	M5333K	probably damaging	Het
Mmp13	A	T	9: 7,272,781 (GRCm39)	Y47F	probably benign	Het
Muc16	G	A	9: 18,471,282 (GRCm39)	P7261S	probably benign	Het
Nostrin	G	T	2: 69,005,856 (GRCm39)	M212I	probably benign	Het
Nr1h5	G	A	3: 102,865,677 (GRCm39)	T8M	possibly damaging	Het
Nup153	A	T	13: 46,870,792 (GRCm39)	L41H	probably damaging	Het
Or10b1	T	C	10: 78,355,802 (GRCm39)	L120P	noncoding transcript	Het
Or5b97	T	A	19: 12,878,653 (GRCm39)	I164L	probably benign	Het
Pappa	A	T	4: 65,099,278 (GRCm39)	D599V	probably damaging	Het
Pcdh18	G	A	3: 49,710,364 (GRCm39)	T317I	probably benign	Het
Pcsk5	T	A	19: 17,434,150 (GRCm39)	N1406I	possibly damaging	Het
Pik3c2a	A	T	7: 115,961,419 (GRCm39)	Y1027N	probably damaging	Het
Prpf6	T	A	2: 181,257,844 (GRCm39)	Y105*	probably null	Het
Rab5a	C	T	17: 53,804,650 (GRCm39)	P87S	probably damaging	Het
Rnf8	T	A	17: 29,854,843 (GRCm39)	W433R	probably damaging	Het
Slc18b1	T	A	10: 23,692,227 (GRCm39)	V232D	probably benign	Het
Taf11	C	A	17: 28,126,492 (GRCm39)	A52S	probably benign	Het
Thoc2l	T	C	5: 104,665,555 (GRCm39)	F26L	probably benign	Het
Trav9-2	T	C	14: 53,828,819 (GRCm39)	L63P	possibly damaging	Het
Zfat	T	C	15: 67,956,235 (GRCm39)	Y1199C	probably damaging	Het

Other mutations in Gm11569

Allele	Source	Chr	Coord	Type	Predicted Effect
PIT4486001:Gm11569	UTSW	11	99,689,491 (GRCm39)	small deletion	probably benign
R0968:Gm11569	UTSW	11	99,689,250 (GRCm39)	unclassified	probably benign
R5696:Gm11569	UTSW	11	99,689,556 (GRCm39)	unclassified	probably benign
R6886:Gm11569	UTSW	11	99,689,247 (GRCm39)	unclassified	probably benign
R8007:Gm11569	UTSW	11	99,689,688 (GRCm39)	missense	unknown
R8047:Gm11569	UTSW	11	99,689,616 (GRCm39)	missense	unknown
R8873:Gm11569	UTSW	11	99,689,210 (GRCm39)	missense	unknown
R9154:Gm11569	UTSW	11	99,689,267 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGCTGGACACACAACAGCTG -3'
(R):5'- GCTAGGAAATGAAACATGCCTAATG -3'

Sequencing Primer
(F):5'- ACACAACAGCTGGGGCG -3'
(R):5'- ATAACAAGGAAAGGATGCTGTATGTG -3'

Posted On

2018-08-29