Mutagenetix > Incidental Mutation

Incidental Mutation 'R5199:Gm11444'

470582

Institutional Source

Beutler Lab

Gene Symbol

Gm11444

Ensembl Gene

ENSMUSG00000069785

Gene Name

predicted gene 11444

Synonyms

MMRRC Submission

042775-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R5199 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

85846790-85850333 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 85848019 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 83 (S83A)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000146433
AA Change: S83A

SMART Domains

Protein: ENSMUSP00000116236
Gene: ENSMUSG00000069785
AA Change: S83A

Domain	Start	End	E-Value	Type
low complexity region	130	143	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam1a	T	C	5: 121,521,152	E26G	probably benign	Het
Adar	T	A	3: 89,745,944	M797K	probably damaging	Het
Amdhd1	A	T	10: 93,525,985	C352S	probably damaging	Het
AW554918	C	A	18: 25,340,299	R387S	probably damaging	Het
C130079G13Rik	T	C	3: 59,936,485	L200P	probably damaging	Het
Cabp1	A	G	5: 115,186,043	V5A	possibly damaging	Het
Carmil1	A	G	13: 24,111,870	L387P	probably damaging	Het
Cds2	T	A	2: 132,298,483	H200Q	probably damaging	Het
Cep170b	T	A	12: 112,744,147	L1470Q	probably damaging	Het
Cnnm1	A	G	19: 43,494,986	D956G	possibly damaging	Het
Cnot8	C	T	11: 58,115,274	Q210*	probably null	Het
Cpne8	G	A	15: 90,648,609	T65I	probably benign	Het
Crygn	A	G	5: 24,756,158	V50A	probably damaging	Het
Cxcr4	A	G	1: 128,589,546	V126A	probably damaging	Het
Cyp4f15	A	G	17: 32,702,372	D464G	probably benign	Het
Dapp1	C	T	3: 137,981,385	S12N	probably benign	Het
Dhps	G	A	8: 85,073,406	G162R	probably damaging	Het
Dsp	T	G	13: 38,192,902	Y1554*	probably null	Het
Etl4	G	T	2: 20,744,042	R397L	probably damaging	Het
Ezh2	C	T	6: 47,551,725	C291Y	probably benign	Het
Gbp9	T	C	5: 105,083,812	S303G	probably benign	Het
Gm156	T	A	6: 129,775,818	Y8F	possibly damaging	Het
Gpat4	A	G	8: 23,182,696	V46A	possibly damaging	Het
Haus6	T	C	4: 86,582,985	D883G	possibly damaging	Het
Hinfp	T	C	9: 44,296,392	E439G	probably benign	Het
Ifna14	T	A	4: 88,571,362	Y146F	probably damaging	Het
Igkv3-3	A	T	6: 70,687,504	Y110F	probably damaging	Het
Kansl2-ps	A	G	7: 72,673,194		noncoding transcript	Het
Mcmdc2	T	C	1: 9,920,435	V279A	probably benign	Het
Mug2	T	A	6: 122,040,660	V452D	probably benign	Het
Ndufb3	C	G	1: 58,591,122		probably benign	Het
Oas1d	G	T	5: 120,919,145	K271N	probably benign	Het
Olfr1012	A	G	2: 85,760,214	L54P	probably damaging	Het
Olfr1215	T	A	2: 89,001,763	H175L	possibly damaging	Het
Olfr203	T	A	16: 59,303,740	F196I	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pcnt	T	A	10: 76,418,544	H817L	probably benign	Het
Per3	G	T	4: 151,012,895	S724R	probably benign	Het
Phlpp1	T	A	1: 106,173,394	V464E	probably damaging	Het
Psme4	A	G	11: 30,853,272	E38G	probably benign	Het
Qtrt2	T	C	16: 43,867,425	N264S	probably benign	Het
Ranbp2	G	A	10: 58,464,443	R557H	probably benign	Het
Rptor	T	A	11: 119,603,816	S3T	probably benign	Het
Saxo1	T	A	4: 86,487,782	Y60F	probably damaging	Het
St3gal1	A	G	15: 67,113,715	V30A	probably benign	Het
Tmem245	G	A	4: 56,925,149	S324L	probably benign	Het
Topbp1	A	G	9: 103,346,672		probably benign	Het
Urb1	T	C	16: 90,792,748	T382A	possibly damaging	Het
Vmn1r178	A	T	7: 23,894,389	L214F	probably benign	Het
Vmn2r82	G	A	10: 79,396,087	C640Y	probably damaging	Het
Vsx2	A	G	12: 84,593,210	D281G	probably benign	Het
Zfp804b	A	T	5: 6,770,013	C1017S	probably benign	Het

Other mutations in Gm11444

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01298:Gm11444	APN	11	85848094	missense	unknown
R1958:Gm11444	UTSW	11	85848173	splice site	probably benign
R6283:Gm11444	UTSW	11	85846791	splice site	probably null
R7088:Gm11444	UTSW	11	85847036	missense
R7579:Gm11444	UTSW	11	85850243	missense	unknown
R8378:Gm11444	UTSW	11	85850249	missense
R8708:Gm11444	UTSW	11	85846897	missense
R9803:Gm11444	UTSW	11	85846873	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGGTCATTGACTTCCTTAAGGC -3'
(R):5'- GGCTTGGAAGACGACCTTTG -3'

Sequencing Primer
(F):5'- TGACTTCCTTAAGGCATAGTTGGC -3'
(R):5'- GCCCTGCTTCCAGATGGTAAAATTC -3'

Posted On

2017-03-14