Mutagenetix > Incidental Mutations

Incidental Mutation 'R2172:Gm10696'

237530

Institutional Source

Beutler Lab

Gene Symbol

Gm10696

Ensembl Gene

ENSMUSG00000074424

Gene Name

predicted gene 10696

Synonyms

MMRRC Submission

040174-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.936) question?

Stock #

R2172 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94174412-94178193 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 94176298 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 69 (K69Q)

Ref Sequence

ENSEMBL: ENSMUSP00000132199 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000161475] [ENSMUST00000167916]

AlphaFold

Q3UTC4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159115

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161475
AA Change: K69Q

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000124942
Gene: ENSMUSG00000074424
AA Change: K69Q

Domain	Start	End	E-Value	Type
MATH	24	130	4.7e-10	SMART
BTB	188	287	1.53e-25	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167916
AA Change: K69Q

PolyPhen 2 Score 0.677 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000132199
Gene: ENSMUSG00000074424
AA Change: K69Q

Domain	Start	End	E-Value	Type
MATH	24	130	4.7e-10	SMART
BTB	188	287	1.53e-25	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap3	T	A	18: 37,990,560	E441V	probably damaging	Het
Arfip2	T	A	7: 105,637,988	D64V	probably damaging	Het
Atg9a	C	A	1: 75,185,685	R527L	probably damaging	Het
Atp1a1	T	G	3: 101,590,548	I308L	probably benign	Het
Bcan	T	A	3: 87,996,581	Y199F	probably damaging	Het
Bsn	T	C	9: 108,109,992		probably benign	Het
Ccdc158	A	T	5: 92,632,508	L902H	probably damaging	Het
Dnah7b	A	G	1: 46,124,512	Y492C	probably benign	Het
Dnah9	G	T	11: 66,072,779	H1783N	probably damaging	Het
Dpep2	A	G	8: 105,988,998	V320A	possibly damaging	Het
Dsc2	A	G	18: 20,045,502	Y282H	probably damaging	Het
Egfr	C	T	11: 16,911,562	P1114S	probably benign	Het
Fastkd1	A	G	2: 69,700,133	S560P	probably damaging	Het
Gm14295	G	A	2: 176,811,102	R795Q	possibly damaging	Het
Gpr155	C	T	2: 73,382,127	V51I	probably benign	Het
Gsap	G	A	5: 21,222,440		probably null	Het
Hecw1	T	A	13: 14,377,706	I103F	probably damaging	Het
Herc3	T	A	6: 58,887,437	N685K	probably damaging	Het
Hnrnph1	T	A	11: 50,382,816	D244E	probably benign	Het
Hydin	A	G	8: 110,582,049	E3989G	probably benign	Het
Ibsp	T	C	5: 104,310,430	Y278H	probably damaging	Het
Ift57	T	G	16: 49,759,340	N291K	probably benign	Het
Il15ra	A	G	2: 11,723,571	T149A	possibly damaging	Het
Ints5	C	T	19: 8,896,282	T535I	possibly damaging	Het
Jarid2	T	C	13: 44,902,539	L268P	probably damaging	Het
Klhdc7a	T	A	4: 139,965,810	T609S	probably benign	Het
Lrrc49	A	G	9: 60,602,682	V429A	probably benign	Het
Lsm3	T	C	6: 91,522,272	V87A	possibly damaging	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Map1a	G	T	2: 121,307,932	V2726L	probably damaging	Het
Marveld3	A	C	8: 109,961,846	S88A	probably benign	Het
Mcm9	T	C	10: 53,548,574	D640G	probably damaging	Het
Mettl4	A	G	17: 94,733,163	I399T	probably benign	Het
Mmp27	T	A	9: 7,577,378	L274*	probably null	Het
Nacc2	A	C	2: 26,060,223	D500E	probably benign	Het
Nprl3	T	A	11: 32,234,894	M372L	probably benign	Het
Olfr478	A	T	7: 108,031,467	I292N	probably damaging	Het
Otud7b	T	G	3: 96,153,520		probably null	Het
Pcx	G	A	19: 4,620,881	R1070H	probably benign	Het
Ptprq	C	T	10: 107,590,994	W1560*	probably null	Het
Puf60	A	T	15: 76,070,464	I520N	probably damaging	Het
Qars	C	T	9: 108,509,200	R143C	probably damaging	Het
Rfx3	G	A	19: 27,815,494	Q322*	probably null	Het
Samd14	G	T	11: 95,014,391	V10L	probably benign	Het
Setd2	G	A	9: 110,549,844	R909Q	probably benign	Het
Sh2d4a	T	C	8: 68,296,664	S117P	probably benign	Het
Sharpin	C	A	15: 76,350,666		probably benign	Het
Skor1	C	A	9: 63,145,122	A494S	possibly damaging	Het
Slc41a2	T	C	10: 83,283,774	T375A	probably benign	Het
Sparc	G	A	11: 55,395,801	Q324*	probably null	Het
Srebf1	T	C	11: 60,206,502	T171A	probably benign	Het
Srrd	A	G	5: 112,341,122	I54T	possibly damaging	Het
Tecpr1	G	T	5: 144,196,417	Q1072K	probably damaging	Het
Tecpr1	A	T	5: 144,211,456	V377E	probably benign	Het
Tln1	T	A	4: 43,545,721	H919L	probably benign	Het
Tm9sf3	C	T	19: 41,217,420	S516N	probably damaging	Het
Trpa1	T	A	1: 14,881,656	T940S	probably benign	Het
Trpv4	G	A	5: 114,644,710	R64C	probably damaging	Het
Tufm	A	G	7: 126,488,847	E174G	probably benign	Het
Urb2	A	G	8: 124,031,102	T1183A	probably damaging	Het
Virma	A	T	4: 11,527,843	M1245L	possibly damaging	Het
Vmn2r32	T	C	7: 7,474,615	Y259C	probably damaging	Het
Zfp329	A	G	7: 12,810,767	F277L	probably damaging	Het
Zfp683	C	T	4: 134,055,795	T190I	possibly damaging	Het

Other mutations in Gm10696

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01744:Gm10696	APN	3	94176237	missense	probably damaging	1.00
IGL02057:Gm10696	APN	3	94176355	missense	probably damaging	1.00
R1983:Gm10696	UTSW	3	94176294	missense	possibly damaging	0.89
R2102:Gm10696	UTSW	3	94175666	nonsense	probably null
R2110:Gm10696	UTSW	3	94175527	missense	probably damaging	0.99
R2358:Gm10696	UTSW	3	94175547	missense	possibly damaging	0.81
R2358:Gm10696	UTSW	3	94175548	missense	possibly damaging	0.61
R4534:Gm10696	UTSW	3	94176450	missense	probably benign	0.39
R4939:Gm10696	UTSW	3	94176233	nonsense	probably null
R4961:Gm10696	UTSW	3	94175534	nonsense	probably null
R4993:Gm10696	UTSW	3	94176316	missense	probably damaging	1.00
R7154:Gm10696	UTSW	3	94176219	missense	probably benign	0.17
R7218:Gm10696	UTSW	3	94175549	missense	possibly damaging	0.91
R7256:Gm10696	UTSW	3	94176360	missense	probably benign	0.01
R7464:Gm10696	UTSW	3	94176104	missense	probably benign	0.08
R7473:Gm10696	UTSW	3	94176202	nonsense	probably null
R7596:Gm10696	UTSW	3	94176430	missense	probably benign	0.12
R7974:Gm10696	UTSW	3	94175541	missense	probably benign	0.18
R8419:Gm10696	UTSW	3	94175614	missense	probably benign	0.06
R8497:Gm10696	UTSW	3	94175812	missense	possibly damaging	0.93
R8519:Gm10696	UTSW	3	94176190	missense	probably benign	0.05
R8686:Gm10696	UTSW	3	94176120	missense	probably benign	0.01
R9223:Gm10696	UTSW	3	94175643	missense	probably damaging	1.00
Z1177:Gm10696	UTSW	3	94176102	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- CTATGCTCACTTGGCAGCAGAG -3'
(R):5'- GGGGATACACACATATCAGCG -3'

Sequencing Primer
(F):5'- CAGAGGGTAAGCTGGTCTTCAG -3'
(R):5'- GGGGATACACACATATCAGCGTTTAC -3'

Posted On

2014-10-02