Mutagenetix > Incidental Mutation

Incidental Mutation 'R2128:Gm11595'

227754

Institutional Source

Beutler Lab

Gene Symbol

Gm11595

Ensembl Gene

ENSMUSG00000078668

Gene Name

predicted gene 11595

Synonyms

MMRRC Submission

040131-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R2128 (G1)

Quality Score

212

Status

Not validated

Chromosome

Chromosomal Location

99662540-99663739 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 99663327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 118 (C118S)

Ref Sequence

ENSEMBL: ENSMUSP00000103064 (fasta)

Gene Model

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

AlphaFold

B1AQA7

Predicted Effect

unknown
Transcript: ENSMUST00000107440
AA Change: C118S

SMART Domains

Protein: ENSMUSP00000103064
Gene: ENSMUSG00000078668
AA Change: C118S

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

0.3086

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 87,066,066 (GRCm39)	E249G	possibly damaging	Het
2610028H24Rik	A	G	10: 76,293,349 (GRCm39)	M136V	possibly damaging	Het
4930523C07Rik	A	T	1: 159,902,945 (GRCm39)	K72*	probably null	Het
Abca6	A	G	11: 110,110,475 (GRCm39)	I558T	probably benign	Het
Acot10	T	C	15: 20,666,712 (GRCm39)	T10A	probably benign	Het
Adgrl4	T	A	3: 151,205,838 (GRCm39)	D233E	probably benign	Het
Adgrv1	A	T	13: 81,705,199 (GRCm39)	F1537Y	probably damaging	Het
Aqp3	T	A	4: 41,098,061 (GRCm39)	I17F	probably benign	Het
Arap1	T	A	7: 101,058,527 (GRCm39)	L1375H	probably damaging	Het
Aspm	T	C	1: 139,385,373 (GRCm39)	V339A	probably benign	Het
Atp13a3	G	A	16: 30,173,094 (GRCm39)	A261V	probably damaging	Het
Casp8ap2	T	C	4: 32,640,142 (GRCm39)	Y399H	probably benign	Het
Cept1	A	G	3: 106,420,195 (GRCm39)	V213A	probably damaging	Het
Cit	A	G	5: 116,123,566 (GRCm39)	D1469G	possibly damaging	Het
Cnga2	A	G	X: 71,051,394 (GRCm39)	Y182C	possibly damaging	Het
Cox20	A	G	1: 178,149,512 (GRCm39)	I54V	probably benign	Het
Dhx8	C	A	11: 101,629,235 (GRCm39)	D261E	probably benign	Het
Dnah2	A	T	11: 69,349,011 (GRCm39)	I2486N	probably benign	Het
Dnah5	A	G	15: 28,408,467 (GRCm39)	Q3484R	probably benign	Het
Drd1	T	C	13: 54,207,572 (GRCm39)	Y207C	probably damaging	Het
Dtl	C	T	1: 191,290,222 (GRCm39)	V222I	probably damaging	Het
Dync1h1	T	C	12: 110,607,316 (GRCm39)	Y2636H	probably damaging	Het
Endog	C	A	2: 30,062,048 (GRCm39)	D154E	probably benign	Het
Epc1	A	T	18: 6,462,954 (GRCm39)	V14E	probably damaging	Het
Ercc4	C	A	16: 12,965,798 (GRCm39)	T810K	probably damaging	Het
Fam43b	T	A	4: 138,123,299 (GRCm39)	N7I	possibly damaging	Het
Fgd1	T	C	X: 149,869,213 (GRCm39)		probably null	Het
Filip1	G	T	9: 79,726,612 (GRCm39)	T669N	probably damaging	Het
Fndc1	A	G	17: 7,997,497 (GRCm39)		probably benign	Het
Foxk1	C	A	5: 142,420,943 (GRCm39)	S189*	probably null	Het
Gatm	T	C	2: 122,431,017 (GRCm39)	N274S	probably damaging	Het
Gdf9	A	G	11: 53,328,334 (GRCm39)	Y430C	probably damaging	Het
Gga1	C	T	15: 78,772,648 (GRCm39)	P260S	probably damaging	Het
Gm382	G	T	X: 125,970,274 (GRCm39)	V820L	possibly damaging	Het
Gzmk	T	A	13: 113,308,548 (GRCm39)	I179F	probably damaging	Het
Hsp90b1	T	C	10: 86,531,570 (GRCm39)	D421G	probably damaging	Het
Hus1	A	G	11: 8,956,011 (GRCm39)	M174T	probably damaging	Het
Ifngr2	T	A	16: 91,359,761 (GRCm39)	Y289*	probably null	Het
Il6st	T	A	13: 112,640,709 (GRCm39)	H828Q	probably benign	Het
Impg2	T	A	16: 56,038,742 (GRCm39)	Y127N	probably damaging	Het
Irf3	T	A	7: 44,651,168 (GRCm39)	W345R	probably damaging	Het
Kif1b	G	A	4: 149,272,097 (GRCm39)	S1568L	possibly damaging	Het
Klhl42	A	G	6: 147,003,251 (GRCm39)	T342A	probably benign	Het
Kndc1	G	T	7: 139,510,025 (GRCm39)	R1289L	probably damaging	Het
Knl1	A	T	2: 118,902,300 (GRCm39)	T1334S	possibly damaging	Het
L3mbtl3	G	T	10: 26,189,766 (GRCm39)	D499E	unknown	Het
Ldhd	T	A	8: 112,353,680 (GRCm39)	M478L	probably benign	Het
Loxl4	C	G	19: 42,592,402 (GRCm39)	E385D	probably damaging	Het
Lrriq1	G	A	10: 103,050,718 (GRCm39)	T678I	probably benign	Het
Macf1	T	A	4: 123,386,567 (GRCm39)	I1017F	probably benign	Het
Madcam1	A	G	10: 79,501,406 (GRCm39)	E157G	possibly damaging	Het
Mamdc4	T	C	2: 25,459,270 (GRCm39)	D195G	probably damaging	Het
Mctp1	A	G	13: 76,972,941 (GRCm39)	D648G	probably damaging	Het
Mycbp2	T	C	14: 103,438,666 (GRCm39)	M2072V	probably benign	Het
Nck1	A	G	9: 100,379,600 (GRCm39)		probably null	Het
Ndufaf4	G	T	4: 24,898,608 (GRCm39)	D55Y	probably damaging	Het
Nek11	A	T	9: 105,177,560 (GRCm39)	D230E	probably benign	Het
Nit2	T	C	16: 56,981,559 (GRCm39)	K67E	possibly damaging	Het
Or12j2	C	T	7: 139,916,342 (GRCm39)	T189M	probably damaging	Het
Or5ae1	T	C	7: 84,565,701 (GRCm39)	F238S	probably damaging	Het
Or6a2	T	C	7: 106,600,455 (GRCm39)	D204G	probably damaging	Het
Or6c1	A	T	10: 129,518,401 (GRCm39)	V69E	possibly damaging	Het
Pakap	A	G	4: 57,854,890 (GRCm39)	Y134C	probably benign	Het
Pccb	G	C	9: 100,867,884 (GRCm39)	D347E	probably damaging	Het
Plcl1	T	A	1: 55,736,997 (GRCm39)	F779L	probably damaging	Het
Prune2	C	A	19: 17,099,786 (GRCm39)	D1763E	probably benign	Het
Pwwp2a	A	G	11: 43,596,145 (GRCm39)	S437G	probably benign	Het
Rabgap1l	A	T	1: 160,566,527 (GRCm39)	D90E	probably benign	Het
Rapgef4	T	A	2: 72,056,897 (GRCm39)	I552N	possibly damaging	Het
Scn7a	A	T	2: 66,528,330 (GRCm39)	I720K	probably damaging	Het
Scn9a	T	A	2: 66,356,998 (GRCm39)	N1101I	probably damaging	Het
Siglec1	A	T	2: 130,922,417 (GRCm39)	Y553N	probably damaging	Het
Slc22a23	A	G	13: 34,387,953 (GRCm39)	L381P	possibly damaging	Het
Slc7a11	T	A	3: 50,338,558 (GRCm39)	T284S	probably damaging	Het
Slc8a2	T	A	7: 15,874,417 (GRCm39)		probably null	Het
Snx29	T	A	16: 11,218,835 (GRCm39)	S224T	probably damaging	Het
Stimate	T	C	14: 30,588,581 (GRCm39)	Y103H	probably damaging	Het
Stox1	T	C	10: 62,500,314 (GRCm39)	T749A	probably benign	Het
Tg	A	G	15: 66,566,743 (GRCm39)	I1264V	probably benign	Het
Top2a	A	C	11: 98,900,633 (GRCm39)	V609G	probably damaging	Het
Trmt44	G	A	5: 35,732,176 (GRCm39)	P72S	probably benign	Het
Ttll3	G	C	6: 113,389,895 (GRCm39)	S760T	probably benign	Het
Ttn	T	C	2: 76,579,022 (GRCm39)	D23957G	probably damaging	Het
Ttn	G	A	2: 76,664,241 (GRCm39)		probably benign	Het
Ubxn1	T	G	19: 8,849,434 (GRCm39)	V59G	probably benign	Het
Ubxn4	T	C	1: 128,172,247 (GRCm39)	S14P	probably benign	Het
Uso1	T	A	5: 92,343,229 (GRCm39)	M771K	probably benign	Het
Utp20	A	G	10: 88,649,917 (GRCm39)	F431S	probably damaging	Het
Vmn1r206	T	C	13: 22,804,782 (GRCm39)	S142G	probably benign	Het
Vmn2r19	A	G	6: 123,285,289 (GRCm39)		probably null	Het
Vps36	G	T	8: 22,708,305 (GRCm39)		probably null	Het
Wnt3	A	G	11: 103,703,474 (GRCm39)	H319R	possibly damaging	Het
Zbtb26	G	T	2: 37,326,563 (GRCm39)	Q158K	probably benign	Het
Zfp648	T	C	1: 154,080,353 (GRCm39)	S171P	probably benign	Het

Other mutations in Gm11595

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL00579:Gm11595	APN	11	99,662,868 (GRCm39)	missense	unknown
IGL00987:Gm11595	APN	11	99,663,365 (GRCm39)	missense	unknown
IGL01662:Gm11595	APN	11	99,663,498 (GRCm39)	missense	unknown
IGL01994:Gm11595	APN	11	99,663,027 (GRCm39)	missense	unknown
R0548:Gm11595	UTSW	11	99,662,967 (GRCm39)	missense	unknown
R1923:Gm11595	UTSW	11	99,663,365 (GRCm39)	missense	unknown
R2127:Gm11595	UTSW	11	99,663,327 (GRCm39)	missense	unknown
R3807:Gm11595	UTSW	11	99,663,380 (GRCm39)	missense	unknown
R4007:Gm11595	UTSW	11	99,662,861 (GRCm39)	missense	unknown
R5281:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5283:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5303:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5305:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5306:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5307:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5308:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5561:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5637:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5639:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5718:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5719:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5720:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5721:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5769:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5770:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5771:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5791:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R5841:Gm11595	UTSW	11	99,663,143 (GRCm39)	missense	unknown
R6054:Gm11595	UTSW	11	99,663,474 (GRCm39)	missense	unknown
R6277:Gm11595	UTSW	11	99,663,510 (GRCm39)	missense	unknown
R6281:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6282:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6310:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6321:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6322:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6327:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6337:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6368:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6369:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6431:Gm11595	UTSW	11	99,663,600 (GRCm39)	missense	unknown
R6483:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6485:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6493:Gm11595	UTSW	11	99,663,381 (GRCm39)	missense	unknown
R6758:Gm11595	UTSW	11	99,663,367 (GRCm39)	nonsense	probably null
R6758:Gm11595	UTSW	11	99,663,366 (GRCm39)	missense	unknown
R7037:Gm11595	UTSW	11	99,663,474 (GRCm39)	missense	unknown
R8053:Gm11595	UTSW	11	99,662,954 (GRCm39)	missense	unknown
R8911:Gm11595	UTSW	11	99,663,564 (GRCm39)	missense	unknown
R9632:Gm11595	UTSW	11	99,663,097 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGGATACACAGCAGCTAGGG -3'
(R):5'- CAGCTGCTGCATTTCTAGC -3'

Sequencing Primer
(F):5'- GCCTGCAGCAGCTAGAAATGC -3'
(R):5'- GCATTTCTAGCTGTTGTAGACC -3'

Posted On

2014-09-17