Mutagenetix > Incidental Mutation

Incidental Mutation 'R3552:Zfp692'

269008

Institutional Source

Beutler Lab

Gene Symbol

Zfp692

Ensembl Gene

ENSMUSG00000037243

Gene Name

zinc finger protein 692

Synonyms

Zfp692-ps

MMRRC Submission

040669-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58307069-58314627 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58309428 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 170 (T170I)

Ref Sequence

ENSEMBL: ENSMUSP00000131896 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049353] [ENSMUST00000153510]

AlphaFold

Q3U381

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049353
AA Change: T170I

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131896
Gene: ENSMUSG00000037243
AA Change: T170I

Domain	Start	End	E-Value	Type
low complexity region	10	23	N/A	INTRINSIC
low complexity region	94	110	N/A	INTRINSIC
low complexity region	159	175	N/A	INTRINSIC
low complexity region	193	204	N/A	INTRINSIC
low complexity region	215	232	N/A	INTRINSIC
ZnF_C2H2	327	352	4.11e-2	SMART
ZnF_C2H2	358	382	2.05e-2	SMART
ZnF_C2H2	388	410	1.69e-3	SMART
ZnF_C2H2	416	438	1.69e-3	SMART
ZnF_C2H2	447	470	6.23e-2	SMART
low complexity region	502	520	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153510
AA Change: T170I

PolyPhen 2 Score 0.302 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000126674
Gene: ENSMUSG00000037243
AA Change: T170I

Domain	Start	End	E-Value	Type
low complexity region	10	23	N/A	INTRINSIC
low complexity region	94	110	N/A	INTRINSIC
low complexity region	159	175	N/A	INTRINSIC
low complexity region	193	204	N/A	INTRINSIC
low complexity region	215	232	N/A	INTRINSIC
ZnF_C2H2	327	352	4.11e-2	SMART
ZnF_C2H2	358	382	2.05e-2	SMART
ZnF_C2H2	388	410	1.69e-3	SMART
ZnF_C2H2	416	438	1.69e-3	SMART
ZnF_C2H2	447	470	6.23e-2	SMART
low complexity region	502	520	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.4%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	A	G	18: 38,258,365		probably benign	Het
Acaca	T	A	11: 84,261,624	Y866N	probably damaging	Het
Agk	A	G	6: 40,394,681	T371A	probably benign	Het
Akna	T	C	4: 63,398,124	M1V	probably null	Het
Aldh7a1	T	C	18: 56,550,292		probably null	Het
Ankrd26	A	T	6: 118,507,776	L1500H	probably damaging	Het
Atp13a5	T	A	16: 29,310,766	D452V	probably damaging	Het
Bahcc1	C	T	11: 120,276,772	T1333M	possibly damaging	Het
Carmil3	G	T	14: 55,507,402	R1276L	possibly damaging	Het
Ccni	T	C	5: 93,187,761	S173G	probably benign	Het
Chrm2	A	T	6: 36,523,810	I201F	probably damaging	Het
Col16a1	A	G	4: 130,077,041	T618A	probably benign	Het
Dock2	T	C	11: 34,720,960	Y192C	probably benign	Het
Ep400	T	A	5: 110,729,287	E821V	unknown	Het
Esrrg	G	A	1: 188,150,190	V215I	probably benign	Het
Evx1	A	T	6: 52,316,923	S359C	probably damaging	Het
Fcrls	A	G	3: 87,259,410	I92T	possibly damaging	Het
Gal3st1	T	A	11: 3,998,110	F106I	possibly damaging	Het
Gm9944	T	C	4: 144,453,043		probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hrc	G	C	7: 45,336,333	E303Q	possibly damaging	Het
Kcnh1	A	G	1: 192,238,766	N118D	probably damaging	Het
Khdrbs1	A	G	4: 129,720,791	I323T	possibly damaging	Het
Klhdc7b	T	C	15: 89,387,521	Y869H	probably benign	Het
Lrrc4c	T	A	2: 97,629,961	W311R	probably damaging	Het
Megf11	A	G	9: 64,695,463	D862G	possibly damaging	Het
Muc5b	A	G	7: 141,861,335	T2673A	possibly damaging	Het
Muc5b	A	G	7: 141,867,705	S4311G	probably benign	Het
Myo15	C	T	11: 60,509,663	A1767V	possibly damaging	Het
Neo1	T	A	9: 58,893,878	K1140M	probably damaging	Het
Oc90	T	C	15: 65,878,801	Q365R	possibly damaging	Het
Olfr1012	T	C	2: 85,759,893	N161S	possibly damaging	Het
Olfr378	T	C	11: 73,425,852	I44V	probably benign	Het
Olfr48	A	C	2: 89,844,343	M210R	possibly damaging	Het
Oplah	C	T	15: 76,302,094	D734N	possibly damaging	Het
Pbx1	G	A	1: 168,158,793	P411L	possibly damaging	Het
Pcdhga6	G	T	18: 37,708,217	R330L	probably benign	Het
Phox2b	C	A	5: 67,097,656	R150L	probably damaging	Het
Plscr2	A	G	9: 92,290,795	E169G	probably damaging	Het
Ptprn2	A	T	12: 116,888,877	Q518L	probably benign	Het
Rbl1	A	T	2: 157,195,585	I214K	probably benign	Het
Ryr1	T	A	7: 29,056,997	Q3464L	probably damaging	Het
Ryr3	T	A	2: 112,751,787	I2854F	probably damaging	Het
Shtn1	T	C	19: 58,975,038	Y615C	probably benign	Het
Sirt5	A	T	13: 43,383,167	N226Y	probably damaging	Het
Slc30a3	G	A	5: 31,095,078		probably benign	Het
Slc5a4b	A	G	10: 76,081,524	V226A	probably damaging	Het
Slf2	C	A	19: 44,934,951	S68*	probably null	Het
Smyd5	G	A	6: 85,442,211	E292K	probably damaging	Het
Spns1	A	G	7: 126,370,371	V512A	possibly damaging	Het
Sry	T	A	Y: 2,663,141	Q173L	unknown	Het
Ssrp1	C	A	2: 85,044,392	Q519K	probably benign	Het
Tgfbr3	T	C	5: 107,139,839	E498G	probably damaging	Het
Tnrc6b	T	G	15: 80,880,247	L650W	probably damaging	Het
Tnxb	A	T	17: 34,718,721	E3861D	probably damaging	Het
Trbc1	G	T	6: 41,539,645		probably benign	Het
Trpm7	T	A	2: 126,826,710		probably benign	Het
Usp39	G	A	6: 72,337,832	T197I	possibly damaging	Het
Vmn1r38	T	C	6: 66,776,493	H213R	possibly damaging	Het
Washc2	A	G	6: 116,220,568	D168G	probably damaging	Het
Washc4	A	G	10: 83,546,856	I45V	probably benign	Het
Zfp352	A	G	4: 90,225,102	E493G	probably benign	Het
Zfp735	C	A	11: 73,711,241	S337*	probably null	Het

Other mutations in Zfp692

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Zfp692	APN	11	58314029	missense	possibly damaging	0.94
IGL00978:Zfp692	APN	11	58309998	missense	possibly damaging	0.92
IGL01667:Zfp692	APN	11	58311553	missense	probably damaging	1.00
IGL02209:Zfp692	APN	11	58313998	nonsense	probably null
IGL02873:Zfp692	APN	11	58308939	missense	probably damaging	1.00
R0255:Zfp692	UTSW	11	58310403	splice site	probably benign
R0267:Zfp692	UTSW	11	58314314	missense	possibly damaging	0.64
R0506:Zfp692	UTSW	11	58309055	nonsense	probably null
R0554:Zfp692	UTSW	11	58314227	missense	probably damaging	1.00
R0628:Zfp692	UTSW	11	58309623	missense	probably damaging	1.00
R0712:Zfp692	UTSW	11	58314314	missense	probably benign	0.00
R1112:Zfp692	UTSW	11	58311562	missense	probably damaging	1.00
R1493:Zfp692	UTSW	11	58314040	missense	probably damaging	1.00
R1768:Zfp692	UTSW	11	58310176	splice site	probably benign
R1853:Zfp692	UTSW	11	58309979	missense	possibly damaging	0.69
R3551:Zfp692	UTSW	11	58309428	missense	possibly damaging	0.52
R4281:Zfp692	UTSW	11	58314265	missense	probably damaging	1.00
R4784:Zfp692	UTSW	11	58310171	missense	probably null	0.12
R5150:Zfp692	UTSW	11	58307587	start codon destroyed	probably null	0.77
R7035:Zfp692	UTSW	11	58309442	critical splice donor site	probably null
R7343:Zfp692	UTSW	11	58311505	missense	probably damaging	1.00
R7896:Zfp692	UTSW	11	58314236	missense	probably damaging	1.00
R8071:Zfp692	UTSW	11	58307734	missense	probably damaging	0.96
R8163:Zfp692	UTSW	11	58310373	splice site	probably null
R9043:Zfp692	UTSW	11	58307724	missense	probably damaging	0.98
R9487:Zfp692	UTSW	11	58308939	missense	probably damaging	1.00
R9777:Zfp692	UTSW	11	58308812	missense	probably benign	0.14
Z1186:Zfp692	UTSW	11	58309033	missense	probably benign	0.02
Z1186:Zfp692	UTSW	11	58310018	missense	probably benign
Z1187:Zfp692	UTSW	11	58309033	missense	probably benign	0.02
Z1187:Zfp692	UTSW	11	58310018	missense	probably benign
Z1188:Zfp692	UTSW	11	58309033	missense	probably benign	0.02
Z1188:Zfp692	UTSW	11	58310018	missense	probably benign
Z1189:Zfp692	UTSW	11	58309033	missense	probably benign	0.02
Z1189:Zfp692	UTSW	11	58310018	missense	probably benign
Z1190:Zfp692	UTSW	11	58309033	missense	probably benign	0.02
Z1190:Zfp692	UTSW	11	58310018	missense	probably benign
Z1191:Zfp692	UTSW	11	58309033	missense	probably benign	0.02
Z1191:Zfp692	UTSW	11	58310018	missense	probably benign
Z1192:Zfp692	UTSW	11	58309033	missense	probably benign	0.02
Z1192:Zfp692	UTSW	11	58310018	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCATTGCTAGGTATGGGAAGC -3'
(R):5'- ATCCCAACTGGCTCATCTGG -3'

Sequencing Primer
(F):5'- CTAGGTATGGGAAGCAAAAGTGTG -3'
(R):5'- GCGTCACTGAGCAGCTCTTC -3'

Posted On

2015-02-19