Mutagenetix > Incidental Mutation

Incidental Mutation 'R7534:Gm11564'

583461

Institutional Source

Beutler Lab

Gene Symbol

Gm11564

Ensembl Gene

ENSMUSG00000078258

Gene Name

predicted gene 11564

Synonyms

MMRRC Submission

045606-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R7534 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

99705802-99706492 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99706347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 28 (T28A)

Ref Sequence

ENSEMBL: ENSMUSP00000100676 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105055]

AlphaFold

A2A4L9

Predicted Effect

unknown
Transcript: ENSMUST00000105055
AA Change: T28A

SMART Domains

Protein: ENSMUSP00000100676
Gene: ENSMUSG00000078258
AA Change: T28A

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	47	5e-9	PFAM
Pfam:Keratin_B2_2	14	58	1.6e-13	PFAM
Pfam:Keratin_B2_2	29	73	3.2e-14	PFAM
Pfam:Keratin_B2_2	54	97	8.4e-14	PFAM
Pfam:Keratin_B2_2	69	113	3.6e-15	PFAM
Pfam:Keratin_B2_2	94	138	1.3e-13	PFAM
Pfam:Keratin_B2_2	104	152	3.9e-13	PFAM
Pfam:Keratin_B2_2	114	163	5.4e-9	PFAM
Pfam:Keratin_B2_2	129	184	4.2e-6	PFAM
Pfam:Keratin_B2_2	165	201	2.9e-6	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aif1	A	C	17: 35,390,390 (GRCm39)	M120R	possibly damaging	Het
Ank2	T	C	3: 126,727,982 (GRCm39)		probably null	Het
Ankrd11	A	T	8: 123,621,149 (GRCm39)	I901N	probably damaging	Het
Apc	T	C	18: 34,450,015 (GRCm39)	S2304P	probably damaging	Het
AW551984	A	T	9: 39,502,777 (GRCm39)	C632S	probably benign	Het
Bicra	T	C	7: 15,705,860 (GRCm39)	N1527S	probably damaging	Het
Cacna1d	A	G	14: 29,801,319 (GRCm39)	L1363P	probably damaging	Het
Cacna1g	G	A	11: 94,301,904 (GRCm39)	P2037S	probably benign	Het
Cdc27	A	G	11: 104,399,240 (GRCm39)	L724S	probably damaging	Het
Cttnbp2	C	T	6: 18,420,764 (GRCm39)		probably null	Het
Dchs1	G	A	7: 105,421,580 (GRCm39)	A280V	probably benign	Het
Dclk3	G	A	9: 111,297,286 (GRCm39)	G277R	probably benign	Het
Ddr1	A	G	17: 35,993,514 (GRCm39)		probably null	Het
Dnah7c	A	C	1: 46,809,227 (GRCm39)	D3515A	probably damaging	Het
Elovl4	G	A	9: 83,672,172 (GRCm39)	T49M	probably damaging	Het
Fam13b	A	T	18: 34,631,060 (GRCm39)	F40I	probably damaging	Het
Fancd2os	T	C	6: 113,574,601 (GRCm39)	H135R	probably benign	Het
Fer1l6	A	G	15: 58,509,875 (GRCm39)	I1446V	probably damaging	Het
Fyb2	T	A	4: 104,856,545 (GRCm39)	Y584*	probably null	Het
Galnt16	A	T	12: 80,643,909 (GRCm39)	L442F	probably damaging	Het
Garem1	T	A	18: 21,432,973 (GRCm39)		probably benign	Het
Ggta1	C	T	2: 35,292,440 (GRCm39)	R289Q	probably damaging	Het
Hcn1	A	G	13: 118,111,961 (GRCm39)	T642A	unknown	Het
Hhat	A	T	1: 192,408,612 (GRCm39)	L173H	probably damaging	Het
Hook1	T	G	4: 95,905,834 (GRCm39)	I585S	probably benign	Het
Ighg1	A	T	12: 113,293,349 (GRCm39)	S114T		Het
Kmt2d	G	A	15: 98,749,899 (GRCm39)	P2598L	unknown	Het
Macc1	A	T	12: 119,411,254 (GRCm39)	H674L	probably benign	Het
Mypn	T	C	10: 63,028,910 (GRCm39)	E51G	probably benign	Het
Or2n1	T	A	17: 38,486,188 (GRCm39)	M71K	probably benign	Het
Or7e170	A	G	9: 19,795,472 (GRCm39)	V43A	probably benign	Het
Or9g3	A	C	2: 85,589,803 (GRCm39)	L306V	probably benign	Het
Pnliprp2	T	A	19: 58,763,574 (GRCm39)	S408T	probably benign	Het
Ppara	A	C	15: 85,661,927 (GRCm39)	Y56S	probably benign	Het
Ppp1r1a	A	G	15: 103,440,816 (GRCm39)	C114R	probably benign	Het
Pycard	C	T	7: 127,592,657 (GRCm39)	V57I	probably damaging	Het
Relch	G	A	1: 105,668,748 (GRCm39)	R993Q	probably benign	Het
Rin3	T	G	12: 102,317,200 (GRCm39)	Y143D	unknown	Het
Slc12a7	A	G	13: 73,912,187 (GRCm39)		probably benign	Het
Slitrk3	C	T	3: 72,957,440 (GRCm39)	R444H	probably damaging	Het
Ttf2	C	T	3: 100,857,728 (GRCm39)		probably null	Het
Ufsp2	T	A	8: 46,433,361 (GRCm39)	I25N	probably benign	Het
Uqcrc2	A	G	7: 120,240,912 (GRCm39)	T115A	possibly damaging	Het
Vmn2r43	T	A	7: 8,258,230 (GRCm39)	R328*	probably null	Het
Vmn2r8	T	A	5: 108,950,040 (GRCm39)	Y269F	possibly damaging	Het
Zbtb5	T	C	4: 44,995,030 (GRCm39)	Y118C	probably damaging	Het
Zeb1	T	C	18: 5,766,611 (GRCm39)	V374A	probably damaging	Het

Other mutations in Gm11564

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02528:Gm11564	APN	11	99,706,293 (GRCm39)	nonsense	probably null
IGL02655:Gm11564	APN	11	99,705,982 (GRCm39)	nonsense	probably null
IGL02859:Gm11564	APN	11	99,705,953 (GRCm39)	missense	unknown
IGL03130:Gm11564	APN	11	99,705,879 (GRCm39)	missense	unknown
R1469:Gm11564	UTSW	11	99,706,058 (GRCm39)	missense	unknown
R1469:Gm11564	UTSW	11	99,706,058 (GRCm39)	missense	unknown
R1878:Gm11564	UTSW	11	99,706,266 (GRCm39)	missense	unknown
R4903:Gm11564	UTSW	11	99,705,858 (GRCm39)	missense	unknown
R5808:Gm11564	UTSW	11	99,705,867 (GRCm39)	missense	unknown
R6500:Gm11564	UTSW	11	99,706,061 (GRCm39)	missense	unknown
R7796:Gm11564	UTSW	11	99,706,424 (GRCm39)	missense	unknown
R9425:Gm11564	UTSW	11	99,706,065 (GRCm39)	missense	unknown
R9661:Gm11564	UTSW	11	99,706,247 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TAGGTTGGCAGCACACAGAC -3'
(R):5'- ATGCTGCATGTGAGGACAGC -3'

Sequencing Primer
(F):5'- TTGCAGCAGCTGGACAC -3'
(R):5'- ATGTGAGGACAGCAGCCC -3'

Posted On

2019-10-17