Mutagenetix > Incidental Mutation

Incidental Mutation 'R4885:Nkx6-3'

375640

Institutional Source

Beutler Lab

Gene Symbol

Nkx6-3

Ensembl Gene

ENSMUSG00000063672

Gene Name

NK6 homeobox 3

Synonyms

9130417I07Rik, Nkx6.3

MMRRC Submission

042851-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

R4885 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23643287-23648964 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 23643914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 105 (P105Q)

Ref Sequence

ENSEMBL: ENSMUSP00000071517 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071588] [ENSMUST00000084038] [ENSMUST00000110688] [ENSMUST00000117296] [ENSMUST00000118733] [ENSMUST00000121075] [ENSMUST00000121802] [ENSMUST00000123418] [ENSMUST00000141784] [ENSMUST00000173573] [ENSMUST00000173248]

AlphaFold

Q3UHX8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071588
AA Change: P105Q

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000071517
Gene: ENSMUSG00000063672
AA Change: P105Q

Domain	Start	End	E-Value	Type
HOX	140	202	3.88e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000084038

SMART Domains

Protein: ENSMUSP00000081051
Gene: ENSMUSG00000031543

Domain	Start	End	E-Value	Type
ANK	15	44	2.5e3	SMART
ANK	48	77	3.26e0	SMART
ANK	81	110	3.15e-7	SMART
ANK	114	143	9.05e-8	SMART
ANK	147	175	4.67e-1	SMART
ANK	176	205	1.42e0	SMART
ANK	209	238	4.39e-6	SMART
ANK	242	271	1.33e-5	SMART
ANK	275	304	7.53e-5	SMART
ANK	308	337	2.35e-6	SMART
ANK	341	370	6.65e-6	SMART
ANK	374	403	5.2e-8	SMART
ANK	407	436	8.78e-6	SMART
ANK	440	469	7.53e-5	SMART
ANK	473	502	5.49e-7	SMART
ANK	506	535	2.58e-3	SMART
ANK	539	568	1.88e-5	SMART
ANK	572	601	1.02e-6	SMART
ANK	605	634	7.64e-6	SMART
ANK	638	669	3.23e-4	SMART
ANK	671	700	1.38e-3	SMART
ANK	704	733	1.58e-7	SMART
ANK	737	766	2.85e-5	SMART
ZU5	923	1027	1.9e-60	SMART
low complexity region	1050	1059	N/A	INTRINSIC
low complexity region	1387	1397	N/A	INTRINSIC
DEATH	1405	1499	3.21e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000110688

SMART Domains

Protein: ENSMUSP00000106316
Gene: ENSMUSG00000031543

Domain	Start	End	E-Value	Type
coiled coil region	1	39	N/A	INTRINSIC
ANK	44	73	2.5e3	SMART
ANK	77	106	3.26e0	SMART
ANK	110	139	3.15e-7	SMART
ANK	143	172	9.05e-8	SMART
ANK	176	204	4.67e-1	SMART
ANK	205	234	1.42e0	SMART
ANK	238	267	4.39e-6	SMART
ANK	271	300	1.33e-5	SMART
ANK	304	333	7.53e-5	SMART
ANK	337	366	2.35e-6	SMART
ANK	370	399	6.65e-6	SMART
ANK	403	432	5.2e-8	SMART
ANK	436	465	8.78e-6	SMART
ANK	469	498	7.53e-5	SMART
ANK	502	531	5.49e-7	SMART
ANK	535	564	2.58e-3	SMART
ANK	568	597	1.88e-5	SMART
ANK	601	630	1.02e-6	SMART
ANK	634	663	7.64e-6	SMART
ANK	667	698	3.23e-4	SMART
ANK	700	729	1.38e-3	SMART
ANK	733	762	1.58e-7	SMART
ANK	766	795	2.85e-5	SMART
ZU5	944	1048	1.9e-60	SMART
low complexity region	1071	1080	N/A	INTRINSIC
low complexity region	1408	1418	N/A	INTRINSIC
DEATH	1426	1520	3.21e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000117296

SMART Domains

Protein: ENSMUSP00000113656
Gene: ENSMUSG00000031543

Domain	Start	End	E-Value	Type
ANK	7	36	2.5e3	SMART
ANK	40	69	3.26e0	SMART
ANK	73	102	3.15e-7	SMART
ANK	106	135	9.05e-8	SMART
ANK	139	167	4.67e-1	SMART
ANK	168	197	1.42e0	SMART
ANK	201	230	4.39e-6	SMART
ANK	234	263	1.33e-5	SMART
ANK	267	296	7.53e-5	SMART
ANK	300	329	2.35e-6	SMART
ANK	333	362	6.65e-6	SMART
ANK	366	395	5.2e-8	SMART
ANK	399	428	8.78e-6	SMART
ANK	432	461	7.53e-5	SMART
ANK	465	494	5.49e-7	SMART
ANK	498	527	2.58e-3	SMART
ANK	531	560	1.88e-5	SMART
ANK	564	593	1.02e-6	SMART
ANK	597	626	7.64e-6	SMART
ANK	630	661	3.23e-4	SMART
ANK	663	692	1.38e-3	SMART
ANK	696	725	1.58e-7	SMART
ANK	729	758	2.85e-5	SMART
ZU5	907	1011	1.9e-60	SMART
low complexity region	1034	1043	N/A	INTRINSIC
low complexity region	1371	1381	N/A	INTRINSIC
DEATH	1389	1483	3.21e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118733

SMART Domains

Protein: ENSMUSP00000112850
Gene: ENSMUSG00000031543

Domain	Start	End	E-Value	Type
ANK	15	44	2.5e3	SMART
ANK	48	77	3.26e0	SMART
ANK	81	110	3.15e-7	SMART
ANK	114	143	9.05e-8	SMART
ANK	147	175	4.67e-1	SMART
ANK	176	205	1.42e0	SMART
ANK	209	238	4.39e-6	SMART
ANK	242	271	1.33e-5	SMART
ANK	275	304	7.53e-5	SMART
ANK	308	337	2.35e-6	SMART
ANK	341	370	6.65e-6	SMART
ANK	374	403	5.2e-8	SMART
ANK	407	436	8.78e-6	SMART
ANK	440	469	7.53e-5	SMART
ANK	473	502	5.49e-7	SMART
ANK	506	535	2.58e-3	SMART
ANK	539	568	1.88e-5	SMART
ANK	572	601	1.02e-6	SMART
ANK	605	634	7.64e-6	SMART
ANK	638	669	3.23e-4	SMART
ANK	671	700	1.38e-3	SMART
ANK	704	733	1.58e-7	SMART
ANK	737	766	2.85e-5	SMART
ZU5	923	1027	1.9e-60	SMART
low complexity region	1050	1059	N/A	INTRINSIC
low complexity region	1387	1397	N/A	INTRINSIC
DEATH	1405	1499	3.21e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000121075

SMART Domains

Protein: ENSMUSP00000112966
Gene: ENSMUSG00000031543

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121802

SMART Domains

Protein: ENSMUSP00000113571
Gene: ENSMUSG00000031543

Domain	Start	End	E-Value	Type
coiled coil region	1	39	N/A	INTRINSIC
ANK	44	73	2.5e3	SMART
ANK	77	106	3.26e0	SMART
ANK	110	139	3.15e-7	SMART
ANK	143	172	9.05e-8	SMART
ANK	176	204	4.67e-1	SMART
ANK	205	234	1.42e0	SMART
ANK	238	267	4.39e-6	SMART
ANK	271	300	1.33e-5	SMART
ANK	304	333	7.53e-5	SMART
ANK	337	366	2.35e-6	SMART
ANK	370	399	6.65e-6	SMART
ANK	403	432	5.2e-8	SMART
ANK	436	465	8.78e-6	SMART
ANK	469	498	7.53e-5	SMART
ANK	502	531	5.49e-7	SMART
ANK	535	564	2.58e-3	SMART
ANK	568	597	1.88e-5	SMART
ANK	601	630	1.02e-6	SMART
ANK	634	663	7.64e-6	SMART
ANK	667	698	3.23e-4	SMART
ANK	700	729	1.38e-3	SMART
ANK	733	762	1.58e-7	SMART
ANK	766	795	2.85e-5	SMART
ZU5	952	1056	1.9e-60	SMART
low complexity region	1079	1088	N/A	INTRINSIC
low complexity region	1416	1426	N/A	INTRINSIC
DEATH	1434	1528	3.21e-26	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141930

Predicted Effect

probably benign
Transcript: ENSMUST00000123418

SMART Domains

Protein: ENSMUSP00000121785
Gene: ENSMUSG00000031543

Domain	Start	End	E-Value	Type
ANK	15	44	2.5e3	SMART
ANK	48	77	3.26e0	SMART
ANK	81	110	3.15e-7	SMART
ANK	114	143	9.05e-8	SMART
ANK	147	175	4.67e-1	SMART
ANK	176	205	1.42e0	SMART
ANK	209	238	4.39e-6	SMART
ANK	242	271	1.33e-5	SMART
ANK	275	304	7.53e-5	SMART
ANK	308	337	2.35e-6	SMART
ANK	341	370	6.65e-6	SMART
ANK	374	403	5.2e-8	SMART
ANK	407	436	8.78e-6	SMART
ANK	440	469	7.53e-5	SMART
ANK	473	502	5.49e-7	SMART
ANK	506	535	2.58e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000141784

SMART Domains

Protein: ENSMUSP00000117966
Gene: ENSMUSG00000031543

Domain	Start	End	E-Value	Type
ANK	7	36	2.5e3	SMART
ANK	40	69	3.26e0	SMART
ANK	73	102	3.15e-7	SMART
ANK	106	135	9.05e-8	SMART
ANK	139	167	4.67e-1	SMART
ANK	168	197	1.42e0	SMART
ANK	201	230	4.39e-6	SMART
ANK	234	263	1.33e-5	SMART
ANK	267	296	7.53e-5	SMART
ANK	300	329	2.35e-6	SMART
ANK	333	362	6.65e-6	SMART
ANK	366	395	5.2e-8	SMART
ANK	399	428	8.78e-6	SMART
ANK	432	461	7.53e-5	SMART
ANK	465	494	5.49e-7	SMART
ANK	498	527	2.58e-3	SMART
ANK	531	560	1.88e-5	SMART
ANK	564	593	1.02e-6	SMART
ANK	597	626	7.64e-6	SMART
ANK	630	661	3.23e-4	SMART
ANK	663	692	1.38e-3	SMART
ANK	696	725	1.58e-7	SMART
ANK	729	758	2.85e-5	SMART
ZU5	907	1011	1.9e-60	SMART
low complexity region	1034	1043	N/A	INTRINSIC
low complexity region	1371	1381	N/A	INTRINSIC
DEATH	1389	1483	3.21e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173573

SMART Domains

Protein: ENSMUSP00000133901
Gene: ENSMUSG00000031543

Domain	Start	End	E-Value	Type
ANK	15	44	2.5e3	SMART
ANK	48	77	3.26e0	SMART
ANK	81	110	3.15e-7	SMART
ANK	114	143	9.05e-8	SMART
ANK	147	175	4.67e-1	SMART
ANK	176	205	1.42e0	SMART
ANK	209	238	4.39e-6	SMART
ANK	242	271	1.33e-5	SMART
ANK	275	304	7.53e-5	SMART
ANK	308	337	2.35e-6	SMART
ANK	341	370	6.65e-6	SMART
ANK	374	403	5.2e-8	SMART
ANK	407	436	8.78e-6	SMART
ANK	440	469	7.53e-5	SMART
ANK	473	502	5.49e-7	SMART
ANK	506	535	2.58e-3	SMART
ANK	539	568	1.88e-5	SMART
ANK	572	601	1.02e-6	SMART
ANK	605	634	7.64e-6	SMART
ANK	638	669	3.23e-4	SMART
ANK	671	700	1.38e-3	SMART
ANK	704	733	1.58e-7	SMART
ANK	737	766	2.85e-5	SMART
ZU5	923	1027	1.9e-60	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173248

SMART Domains

Protein: ENSMUSP00000133322
Gene: ENSMUSG00000031543

Domain	Start	End	E-Value	Type
ANK	15	44	2.5e3	SMART
ANK	48	77	3.26e0	SMART
ANK	81	110	3.15e-7	SMART
ANK	114	143	9.05e-8	SMART
ANK	147	175	4.67e-1	SMART
ANK	176	205	1.42e0	SMART
ANK	209	238	4.39e-6	SMART
ANK	242	271	1.33e-5	SMART
ANK	275	304	7.53e-5	SMART
ANK	308	337	2.35e-6	SMART
ANK	341	370	6.65e-6	SMART
ANK	374	403	5.2e-8	SMART
ANK	407	436	8.78e-6	SMART
ANK	440	469	7.53e-5	SMART
ANK	473	502	5.49e-7	SMART
ANK	506	535	2.58e-3	SMART
ANK	539	568	1.88e-5	SMART
ANK	572	601	1.02e-6	SMART
ANK	605	634	7.64e-6	SMART
ANK	638	669	3.23e-4	SMART
ANK	671	700	1.38e-3	SMART
ANK	704	733	1.58e-7	SMART
ANK	737	766	2.85e-5	SMART
ZU5	923	1027	1.9e-60	SMART
low complexity region	1050	1059	N/A	INTRINSIC
low complexity region	1387	1397	N/A	INTRINSIC
DEATH	1405	1499	3.21e-26	SMART

Meta Mutation Damage Score

0.1027

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

99% (77/78)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit a significantly decreased number of gastrin-producing (G) cells in the stomach antrum, hypogastrinemia, and increased stomach luminal pH, with a corresponding increase in antral somatostatin-producing (D) cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	A	G	16: 20,370,425 (GRCm39)	T317A	probably benign	Het
Adck1	G	A	12: 88,407,865 (GRCm39)	A199T	probably benign	Het
Adgrb1	A	T	15: 74,444,011 (GRCm39)	M1038L	probably benign	Het
Anapc10	C	T	8: 80,455,779 (GRCm39)	T76I	probably benign	Het
Atosa	T	C	9: 74,913,649 (GRCm39)	L94P	probably damaging	Het
Bptf	C	T	11: 106,965,474 (GRCm39)	S1177N	probably benign	Het
Bsn	A	T	9: 107,984,726 (GRCm39)	Y337*	probably null	Het
Ccl20	T	A	1: 83,095,580 (GRCm39)	V48E	possibly damaging	Het
Ccnl1	C	T	3: 65,864,320 (GRCm39)	D122N	probably damaging	Het
Chat	C	G	14: 32,176,567 (GRCm39)	G69A	probably damaging	Het
Cr2	T	A	1: 194,841,039 (GRCm39)	I418F	possibly damaging	Het
Dmxl1	G	C	18: 50,011,862 (GRCm39)	A1340P	probably damaging	Het
Eef2k	G	A	7: 120,491,155 (GRCm39)	R547Q	probably benign	Het
Eml2	G	A	7: 18,937,935 (GRCm39)	S793N	probably benign	Het
Enox1	T	A	14: 77,958,290 (GRCm39)	L632Q	probably damaging	Het
Fabp9	T	C	3: 10,259,738 (GRCm39)	K92E	probably damaging	Het
Fam234a	T	C	17: 26,432,559 (GRCm39)	H530R	probably benign	Het
Fancm	C	T	12: 65,149,417 (GRCm39)	Q728*	probably null	Het
Fgd3	G	A	13: 49,417,465 (GRCm39)	T666M	possibly damaging	Het
Foxs1	T	C	2: 152,774,301 (GRCm39)	M251V	probably benign	Het
Fsip2	A	T	2: 82,818,438 (GRCm39)	M4724L	probably benign	Het
Gemin6	G	A	17: 80,535,327 (GRCm39)	E96K	probably damaging	Het
Gfi1	C	A	5: 107,871,152 (GRCm39)	V80F	probably damaging	Het
H3c13	G	T	3: 96,176,277 (GRCm39)	V90F	possibly damaging	Het
Hectd1	A	G	12: 51,847,505 (GRCm39)	V442A	probably damaging	Het
Ift80	A	G	3: 68,857,829 (GRCm39)	I272T	probably damaging	Het
Impact	C	G	18: 13,119,430 (GRCm39)	A214G	probably damaging	Het
Insl6	C	T	19: 29,302,556 (GRCm39)	E54K	probably benign	Het
Irak3	T	A	10: 120,018,586 (GRCm39)	D54V	probably damaging	Het
Itk	C	T	11: 46,227,171 (GRCm39)		probably null	Het
Ivl	A	T	3: 92,479,718 (GRCm39)	C116S	probably benign	Het
Kcnq4	G	A	4: 120,570,260 (GRCm39)	A361V	probably benign	Het
L1td1	C	T	4: 98,625,548 (GRCm39)	P581L	probably benign	Het
Lrp1b	T	C	2: 41,358,905 (GRCm39)	E656G	probably benign	Het
Macrod2	A	G	2: 140,261,985 (GRCm39)	T89A	possibly damaging	Het
Mettl13	T	C	1: 162,364,837 (GRCm39)	D514G	probably damaging	Het
Mfsd13b	A	T	7: 120,590,711 (GRCm39)	I151F	possibly damaging	Het
Mical3	G	A	6: 120,912,214 (GRCm39)	P1882S	probably damaging	Het
Mycbp2	T	C	14: 103,383,382 (GRCm39)	E394G	possibly damaging	Het
Myo16	T	A	8: 10,488,892 (GRCm39)	S688T	probably damaging	Het
Neb	T	C	2: 52,176,058 (GRCm39)	Y1467C	probably damaging	Het
Nhsl3	C	T	4: 129,118,238 (GRCm39)	R214Q	probably damaging	Het
Nlrp1b	T	C	11: 71,108,710 (GRCm39)	T264A	possibly damaging	Het
Nnat	G	A	2: 157,403,678 (GRCm39)	C122Y	probably damaging	Het
Notch3	G	A	17: 32,360,351 (GRCm39)	R1527C	probably damaging	Het
Or2y16	C	T	11: 49,335,449 (GRCm39)	T257I	probably damaging	Het
Or5an1c	T	G	19: 12,218,082 (GRCm39)		probably null	Het
Or5h18	A	G	16: 58,847,518 (GRCm39)	Y251H	probably damaging	Het
Pds5b	C	T	5: 150,639,927 (GRCm39)	T14I	probably benign	Het
Phf19	A	T	2: 34,789,718 (GRCm39)	I334N	probably damaging	Het
Pik3ap1	T	C	19: 41,364,365 (GRCm39)	D118G	probably benign	Het
Pkhd1	T	A	1: 20,140,712 (GRCm39)	E3886V	possibly damaging	Het
Pkp1	A	G	1: 135,846,690 (GRCm39)	S21P	possibly damaging	Het
Pramel32	T	A	4: 88,546,219 (GRCm39)	L374F	possibly damaging	Het
Rack1	C	A	11: 48,696,463 (GRCm39)	A290E	probably damaging	Het
Rbm15	A	G	3: 107,239,570 (GRCm39)	V276A	probably benign	Het
Rnf216	A	T	5: 143,076,335 (GRCm39)	L183*	probably null	Het
Sc5d	T	C	9: 42,166,922 (GRCm39)	I206V	probably benign	Het
Scpep1	A	G	11: 88,826,737 (GRCm39)	I233T	probably benign	Het
Sh3pxd2a	A	G	19: 47,257,132 (GRCm39)	Y529H	probably damaging	Het
Slc1a4	A	C	11: 20,254,384 (GRCm39)	V494G	probably damaging	Het
Slc38a7	T	C	8: 96,575,230 (GRCm39)	T17A	probably benign	Het
Smg6	T	C	11: 74,932,744 (GRCm39)	S73P	probably damaging	Het
Stk32b	T	C	5: 37,624,141 (GRCm39)	Y202C	probably damaging	Het
Tas2r140	A	G	6: 40,468,334 (GRCm39)	S55G	probably damaging	Het
Tcf12	C	T	9: 71,766,122 (GRCm39)	G504S	probably null	Het
Ttc3	G	C	16: 94,227,690 (GRCm39)		probably null	Het
Ttc3	T	C	16: 94,220,324 (GRCm39)	I568T	probably damaging	Het
Ttc41	T	G	10: 86,594,966 (GRCm39)	N913K	possibly damaging	Het
Vrk1	G	A	12: 106,024,231 (GRCm39)	V236M	probably damaging	Het
Wscd1	C	T	11: 71,650,972 (GRCm39)	R100C	probably damaging	Het
Zc3h18	C	T	8: 123,128,445 (GRCm39)		probably benign	Het

Other mutations in Nkx6-3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0138:Nkx6-3	UTSW	8	23,643,607 (GRCm39)	missense	probably benign	0.00
R0360:Nkx6-3	UTSW	8	23,647,722 (GRCm39)	missense	possibly damaging	0.93
R0364:Nkx6-3	UTSW	8	23,647,722 (GRCm39)	missense	possibly damaging	0.93
R3954:Nkx6-3	UTSW	8	23,643,742 (GRCm39)	missense	possibly damaging	0.53
R4724:Nkx6-3	UTSW	8	23,646,285 (GRCm39)	missense	probably damaging	1.00
R4969:Nkx6-3	UTSW	8	23,647,725 (GRCm39)	missense	probably damaging	1.00
R5165:Nkx6-3	UTSW	8	23,643,759 (GRCm39)	missense	probably damaging	1.00
R6220:Nkx6-3	UTSW	8	23,643,987 (GRCm39)	critical splice donor site	probably null
R6262:Nkx6-3	UTSW	8	23,643,863 (GRCm39)	missense	probably benign	0.34
R6894:Nkx6-3	UTSW	8	23,647,632 (GRCm39)	missense	probably benign	0.41
R7440:Nkx6-3	UTSW	8	23,643,770 (GRCm39)	missense	probably damaging	1.00
R8515:Nkx6-3	UTSW	8	23,643,707 (GRCm39)	missense	possibly damaging	0.83
R8841:Nkx6-3	UTSW	8	23,646,274 (GRCm39)	missense	probably damaging	1.00
R9439:Nkx6-3	UTSW	8	23,643,778 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GCAGAACTCTTTCTACAAGCTCAG -3'
(R):5'- GCTGTGTAATAGCGGCTGAG -3'

Sequencing Primer
(F):5'- TACAAGCTCAGCCCTCCGG -3'
(R):5'- TAATAGCGGCTGAGGTTAGGTAG -3'

Posted On

2016-03-17