Mutagenetix > Incidental Mutation

Incidental Mutation 'R8873:Gm11569'

676425

Institutional Source

Beutler Lab

Gene Symbol

Gm11569

Ensembl Gene

ENSMUSG00000078260

Gene Name

predicted gene 11569

Synonyms

MMRRC Submission

068686-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R8873 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99688890-99689758 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 99689210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 163 (T163N)

Ref Sequence

ENSEMBL: ENSMUSP00000100678 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105057] [ENSMUST00000105058]

AlphaFold

B1AQB1

Predicted Effect

unknown
Transcript: ENSMUST00000105057
AA Change: T163N

SMART Domains

Protein: ENSMUSP00000100678
Gene: ENSMUSG00000078260
AA Change: T163N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000105058

SMART Domains

Protein: ENSMUSP00000100679
Gene: ENSMUSG00000078261

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	48	2.7e-9	PFAM
Pfam:Keratin_B2	1	69	1.9e-10	PFAM
Pfam:Keratin_B2_2	14	58	1.1e-13	PFAM
Pfam:Keratin_B2_2	39	86	4.7e-11	PFAM
Pfam:Keratin_B2_2	84	128	8.2e-13	PFAM
Pfam:Keratin_B2_2	129	173	5.2e-12	PFAM
Pfam:Keratin_B2_2	164	205	3.7e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd15	C	A	11: 77,406,577 (GRCm39)	R185S	probably damaging	Het
Aoah	A	G	13: 21,089,852 (GRCm39)	N157D	probably benign	Het
Arhgap35	T	C	7: 16,295,415 (GRCm39)	N1217D	possibly damaging	Het
Asah2	A	T	19: 32,022,288 (GRCm39)		probably null	Het
Asb2	T	C	12: 103,299,725 (GRCm39)	N236D	probably damaging	Het
Auts2	A	G	5: 131,472,502 (GRCm39)	F317L		Het
Cfap74	T	C	4: 155,539,465 (GRCm39)	I930T	unknown	Het
Cmip	T	C	8: 118,103,929 (GRCm39)	V51A	probably damaging	Het
Col15a1	T	C	4: 47,247,552 (GRCm39)		probably null	Het
Cstf3	A	T	2: 104,475,355 (GRCm39)	H97L	possibly damaging	Het
Dip2c	A	T	13: 9,625,182 (GRCm39)	M559L	probably benign	Het
Dnah5	A	G	15: 28,219,334 (GRCm39)	N51D	probably benign	Het
Dock4	T	A	12: 40,726,767 (GRCm39)	Y348*	probably null	Het
Ehhadh	C	T	16: 21,581,598 (GRCm39)	G465R	probably damaging	Het
Fam110b	C	T	4: 5,799,103 (GRCm39)	Q174*	probably null	Het
Fam124a	A	G	14: 62,844,024 (GRCm39)	T511A	probably benign	Het
Fbxl17	A	G	17: 63,691,971 (GRCm39)	V528A	probably damaging	Het
Fbxw24	C	A	9: 109,453,996 (GRCm39)	W50L	probably damaging	Het
Fyb2	A	T	4: 104,856,538 (GRCm39)	E582V	probably damaging	Het
Ganab	G	A	19: 8,888,243 (GRCm39)	W463*	probably null	Het
Gm8237	G	T	14: 5,862,453 (GRCm38)	Y86*	probably null	Het
Hrh4	T	A	18: 13,140,195 (GRCm39)	M30K		Het
Ifi209	A	G	1: 173,470,156 (GRCm39)	Y248C	probably damaging	Het
Jazf1	T	A	6: 52,789,165 (GRCm39)	H103L	probably damaging	Het
Ltbp1	A	G	17: 75,486,172 (GRCm39)	T66A	probably damaging	Het
Ndufa4	A	G	6: 11,907,360 (GRCm39)	L2P	probably benign	Het
Npnt	G	A	3: 132,655,816 (GRCm39)		probably benign	Het
Nrxn1	G	T	17: 90,872,821 (GRCm39)	C1052*	probably null	Het
Nsmce4a	G	T	7: 130,148,886 (GRCm39)	A40E	unknown	Het
Or2t6	A	T	14: 14,175,344 (GRCm38)	V246E	probably damaging	Het
Pcdhgb2	T	C	18: 37,824,341 (GRCm39)	V444A	probably damaging	Het
Pcdhgb7	C	T	18: 37,886,575 (GRCm39)	P582S	possibly damaging	Het
Phf3	T	C	1: 30,843,773 (GRCm39)	T1729A	possibly damaging	Het
Plod2	T	A	9: 92,489,112 (GRCm39)		probably benign	Het
Pramel15	G	T	4: 144,099,871 (GRCm39)	A298E	probably benign	Het
Rbm20	G	T	19: 53,665,911 (GRCm39)	V25F	probably benign	Het
Recql	G	T	6: 142,308,013 (GRCm39)	Q53K		Het
Rps18-ps6	T	A	13: 97,896,843 (GRCm39)	N85I	probably damaging	Het
Rtel1	CAAA	CAA	2: 180,997,816 (GRCm39)		probably null	Het
Serpine2	A	G	1: 79,799,267 (GRCm39)		probably benign	Het
Siglecg	A	G	7: 43,067,448 (GRCm39)	T672A	probably benign	Het
Skil	T	C	3: 31,152,075 (GRCm39)	L199P	probably damaging	Het
Tmprss11f	C	T	5: 86,692,733 (GRCm39)	A64T	probably damaging	Het
Ttc3	C	T	16: 94,243,842 (GRCm39)	T1282M	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
R6789:Gm11569	UTSW	11	99,689,657 (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
R9154:Gm11569	UTSW	11	99,689,267 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTAAACAGATACTAAGCAGGCTGG -3'
(R):5'- TGCATTTCCAGCTGCTGCAG -3'

Sequencing Primer
(F):5'- GTGGCAAATAGTTGTTGTCCAAATC -3'
(R):5'- CCCAGCTGTTGTGTGTCCAG -3'

Posted On

2021-07-15