Mutagenetix > Incidental Mutation

Incidental Mutation 'R6493:Gm11595'

522874

Institutional Source

Beutler Lab

Gene Symbol

Gm11595

Ensembl Gene

ENSMUSG00000078668

Gene Name

predicted gene 11595

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R6493 (G1)

Quality Score

185.009

Status

Not validated

Chromosome

Chromosomal Location

99771714-99772913 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99772555 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 100 (R100C)

Ref Sequence

ENSEMBL: ENSMUSP00000103064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107440]

AlphaFold

B1AQA7

Predicted Effect

unknown
Transcript: ENSMUST00000107440
AA Change: R100C

SMART Domains

Protein: ENSMUSP00000103064
Gene: ENSMUSG00000078668
AA Change: R100C

Domain	Start	End	E-Value	Type
Pfam:Keratin_B2_2	1	47	7.5e-9	PFAM
Pfam:Keratin_B2_2	14	58	2.8e-13	PFAM
Pfam:Keratin_B2_2	29	73	1.2e-13	PFAM
Pfam:Keratin_B2_2	72	112	2.3e-12	PFAM
Pfam:Keratin_B2_2	107	152	4.6e-14	PFAM
Pfam:Keratin_B2_2	118	162	1.1e-13	PFAM
Pfam:Keratin_B2_2	143	187	3.5e-10	PFAM
Pfam:Keratin_B2_2	168	212	5.6e-13	PFAM
Pfam:Keratin_B2_2	178	222	2.4e-12	PFAM
Pfam:Keratin_B2_2	208	257	1.6e-11	PFAM
Pfam:Keratin_B2_2	223	267	4e-14	PFAM
Pfam:Keratin_B2_2	248	289	9e-9	PFAM

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.3%
20x: 91.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	A	11: 110,293,878	H934L	probably benign	Het
Abcb1b	G	A	5: 8,824,698	D453N	probably damaging	Het
Ampd3	A	G	7: 110,795,811		probably null	Het
Axdnd1	A	T	1: 156,380,813	I485N	probably damaging	Het
Bscl2	A	G	19: 8,839,774	D22G	probably damaging	Het
Ccdc96	A	G	5: 36,486,252	E534G	probably damaging	Het
Cdc42bpg	G	T	19: 6,318,455	G1061V	probably damaging	Het
Cers3	T	C	7: 66,743,720	Y26H	probably benign	Het
Chd1l	G	A	3: 97,587,167	A399V	probably damaging	Het
Clca4a	T	A	3: 144,957,298	T597S	probably benign	Het
Daxx	T	A	17: 33,912,371		probably null	Het
Egf	T	C	3: 129,719,088		probably benign	Het
Eps15	A	G	4: 109,368,948	D629G	probably damaging	Het
Fancm	G	A	12: 65,097,488	A575T	probably benign	Het
Fat4	G	A	3: 38,890,887	D1310N	probably damaging	Het
Gm10424	A	G	5: 95,270,825	L104P	probably damaging	Het
Grxcr2	G	A	18: 41,998,701	P101L	possibly damaging	Het
Hsd17b12	A	T	2: 94,043,883	I225N	probably damaging	Het
Kcnj8	T	C	6: 142,566,047	Y278C	probably damaging	Het
Lama3	G	A	18: 12,482,148		probably null	Het
Lax1	C	T	1: 133,679,792	D404N	probably benign	Het
Lipg	T	C	18: 74,948,024	K329E	probably damaging	Het
Lysmd2	T	G	9: 75,635,702	L197R	probably damaging	Het
Maneal	A	T	4: 124,857,171	I264N	probably damaging	Het
Myh4	A	G	11: 67,258,629	N1729S	probably benign	Het
Myl2	A	G	5: 122,106,728	N154D	possibly damaging	Het
Nlrp9c	T	A	7: 26,382,387	D638V	probably damaging	Het
Notch1	T	C	2: 26,472,098	H74R	unknown	Het
Olfml3	A	T	3: 103,736,207	V286D	possibly damaging	Het
Olfr1271	G	A	2: 90,265,708	H241Y	probably damaging	Het
Olfr228	T	C	2: 86,483,221	I174V	possibly damaging	Het
Olfr310	T	G	7: 86,268,882	K302N	probably benign	Het
Olfr559	G	T	7: 102,724,080	R137S	possibly damaging	Het
Olfr562-ps1	A	G	7: 102,782,396	K307E	probably benign	Het
Parn	A	C	16: 13,656,925	F127V	probably damaging	Het
Pcdhac2	T	C	18: 37,144,705	V246A	probably damaging	Het
Plin2	G	A	4: 86,661,987	T90I	possibly damaging	Het
Podxl	C	T	6: 31,525,046	C326Y	probably damaging	Het
Prl8a8	T	A	13: 27,507,352	K223*	probably null	Het
Ptprh	T	G	7: 4,580,990	E201A	possibly damaging	Het
Rtn1	A	C	12: 72,308,329	V281G	probably damaging	Het
Scaf8	T	C	17: 3,171,119	S294P	unknown	Het
Shroom3	C	A	5: 92,941,561	N723K	probably benign	Het
Spata22	T	C	11: 73,353,746	*312R	probably null	Het
Stx7	T	C	10: 24,185,071		probably null	Het
Taar6	T	C	10: 23,985,123	D175G	probably benign	Het
Tbccd1	A	C	16: 22,822,466	L387R	probably damaging	Het
Tecpr1	T	C	5: 144,209,974	M525V	probably benign	Het
Tex10	A	T	4: 48,436,450	I756N	probably damaging	Het
Tfap2d	G	C	1: 19,104,478	G52R	probably benign	Het
Ttn	T	C	2: 76,741,997	E24438G	probably damaging	Het
Wdpcp	C	T	11: 21,711,631	T301I	possibly damaging	Het
Zbtb1	C	T	12: 76,386,473	T411I	probably benign	Het
Zcchc11	A	G	4: 108,526,805	K1053R	probably damaging	Het
Zzef1	G	A	11: 72,913,303	G2624R	probably benign	Het

Other mutations in Gm11595

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL00579:Gm11595	APN	11	99772042	missense	unknown
IGL00987:Gm11595	APN	11	99772539	missense	unknown
IGL01662:Gm11595	APN	11	99772672	missense	unknown
IGL01994:Gm11595	APN	11	99772201	missense	unknown
R0548:Gm11595	UTSW	11	99772141	missense	unknown
R1923:Gm11595	UTSW	11	99772539	missense	unknown
R2127:Gm11595	UTSW	11	99772501	missense	unknown
R2128:Gm11595	UTSW	11	99772501	missense	unknown
R3807:Gm11595	UTSW	11	99772554	missense	unknown
R4007:Gm11595	UTSW	11	99772035	missense	unknown
R5281:Gm11595	UTSW	11	99772555	missense	unknown
R5283:Gm11595	UTSW	11	99772555	missense	unknown
R5303:Gm11595	UTSW	11	99772555	missense	unknown
R5305:Gm11595	UTSW	11	99772555	missense	unknown
R5306:Gm11595	UTSW	11	99772555	missense	unknown
R5307:Gm11595	UTSW	11	99772555	missense	unknown
R5308:Gm11595	UTSW	11	99772555	missense	unknown
R5561:Gm11595	UTSW	11	99772555	missense	unknown
R5637:Gm11595	UTSW	11	99772555	missense	unknown
R5639:Gm11595	UTSW	11	99772555	missense	unknown
R5718:Gm11595	UTSW	11	99772555	missense	unknown
R5719:Gm11595	UTSW	11	99772555	missense	unknown
R5720:Gm11595	UTSW	11	99772555	missense	unknown
R5721:Gm11595	UTSW	11	99772555	missense	unknown
R5769:Gm11595	UTSW	11	99772555	missense	unknown
R5770:Gm11595	UTSW	11	99772555	missense	unknown
R5771:Gm11595	UTSW	11	99772555	missense	unknown
R5791:Gm11595	UTSW	11	99772555	missense	unknown
R5841:Gm11595	UTSW	11	99772317	missense	unknown
R6054:Gm11595	UTSW	11	99772648	missense	unknown
R6277:Gm11595	UTSW	11	99772684	missense	unknown
R6281:Gm11595	UTSW	11	99772555	missense	unknown
R6282:Gm11595	UTSW	11	99772555	missense	unknown
R6310:Gm11595	UTSW	11	99772555	missense	unknown
R6321:Gm11595	UTSW	11	99772555	missense	unknown
R6322:Gm11595	UTSW	11	99772555	missense	unknown
R6327:Gm11595	UTSW	11	99772555	missense	unknown
R6337:Gm11595	UTSW	11	99772555	missense	unknown
R6368:Gm11595	UTSW	11	99772555	missense	unknown
R6369:Gm11595	UTSW	11	99772555	missense	unknown
R6431:Gm11595	UTSW	11	99772774	missense	unknown
R6483:Gm11595	UTSW	11	99772555	missense	unknown
R6485:Gm11595	UTSW	11	99772555	missense	unknown
R6758:Gm11595	UTSW	11	99772540	missense	unknown
R6758:Gm11595	UTSW	11	99772541	nonsense	probably null
R7037:Gm11595	UTSW	11	99772648	missense	unknown
R8053:Gm11595	UTSW	11	99772128	missense	unknown
R8911:Gm11595	UTSW	11	99772738	missense	unknown
R9632:Gm11595	UTSW	11	99772271	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TAGAACTACCACAGCAGGGG -3'
(R):5'- CACCATGGTCAGTTCCTGTTG -3'

Sequencing Primer
(F):5'- CGACAGCAGCTGGAGATG -3'
(R):5'- TGCCAGACCACCTGCTGTAG -3'

Posted On

2018-06-06