Mutagenetix > Incidental Mutation

Incidental Mutation 'R6220:Nkx6-3'

503950

Institutional Source

Beutler Lab

Gene Symbol

Nkx6-3

Ensembl Gene

ENSMUSG00000063672

Gene Name

NK6 homeobox 3

Synonyms

9130417I07Rik, Nkx6.3

MMRRC Submission

044352-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.162) question?

Stock #

R6220 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23643287-23648964 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 23643987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000071517 (fasta)

Gene Model

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

AlphaFold

Q3UHX8

Predicted Effect

probably null
Transcript: ENSMUST00000071588

SMART Domains

Protein: ENSMUSP00000071517
Gene: ENSMUSG00000063672

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141930

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: 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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (65/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd16b	A	G	2: 181,135,578 (GRCm39)	D160G	probably damaging	Het
Acap1	A	G	11: 69,780,505 (GRCm39)	F15S	probably damaging	Het
Adam30	A	T	3: 98,068,625 (GRCm39)	S153C	probably damaging	Het
Afp	A	T	5: 90,652,269 (GRCm39)	D420V	possibly damaging	Het
Ak9	T	A	10: 41,246,095 (GRCm39)	H729Q	unknown	Het
Armh3	T	C	19: 45,834,554 (GRCm39)	E618G	possibly damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Bcr	A	G	10: 74,898,124 (GRCm39)	T423A	probably benign	Het
Cc2d1b	C	T	4: 108,490,422 (GRCm39)	R825W	probably damaging	Het
Ctns	T	C	11: 73,083,954 (GRCm39)	T23A	probably benign	Het
Ddx54	T	A	5: 120,758,754 (GRCm39)	N332K	probably benign	Het
Dysf	T	A	6: 84,126,727 (GRCm39)	I1344N	probably damaging	Het
Elovl3	A	T	19: 46,122,939 (GRCm39)	M172L	probably benign	Het
Fbxo6	A	T	4: 148,233,979 (GRCm39)	I39N	probably damaging	Het
Filip1l	T	A	16: 57,390,352 (GRCm39)	N313K	probably benign	Het
Foxp2	C	A	6: 15,437,947 (GRCm39)	T716K	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm10645	A	G	8: 83,892,386 (GRCm39)		probably benign	Het
Gm10735	T	C	13: 113,178,030 (GRCm39)		probably benign	Het
Gm4847	A	T	1: 166,462,541 (GRCm39)	D316E	probably damaging	Het
Gorasp2	T	C	2: 70,521,134 (GRCm39)	L388P	probably damaging	Het
Heatr5b	A	G	17: 79,081,106 (GRCm39)	L1382P	probably damaging	Het
Herc1	A	G	9: 66,341,070 (GRCm39)	Y1729C	probably damaging	Het
Ifi207	A	T	1: 173,557,112 (GRCm39)	L542H	probably damaging	Het
Ighv3-5	T	A	12: 114,226,338 (GRCm39)	N96I	probably damaging	Het
Isl1	T	C	13: 116,439,803 (GRCm39)	T182A	probably benign	Het
Jph4	T	C	14: 55,347,542 (GRCm39)	E421G	probably benign	Het
Lrrc45	T	C	11: 120,610,353 (GRCm39)	I488T	probably benign	Het
Mroh8	A	G	2: 157,075,083 (GRCm39)	I471T	probably benign	Het
Ms4a2	A	T	19: 11,594,927 (GRCm39)	D96E	probably damaging	Het
Mst1r	T	A	9: 107,784,547 (GRCm39)	N68K	probably benign	Het
Myo18b	A	G	5: 112,905,373 (GRCm39)	M2075T	possibly damaging	Het
Neb	T	C	2: 52,160,984 (GRCm39)	K2229R	probably null	Het
Nlrp1a	C	A	11: 71,033,164 (GRCm39)	S10I	probably benign	Het
Npas2	A	T	1: 39,375,142 (GRCm39)	T487S	probably benign	Het
Nrxn1	G	C	17: 91,395,904 (GRCm39)	T84R	probably benign	Het
Or4k2	C	A	14: 50,424,135 (GRCm39)	D180Y	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcdh18	A	G	3: 49,699,700 (GRCm39)	C921R	probably damaging	Het
Pcdha9	A	G	18: 37,131,531 (GRCm39)	Y200C	probably damaging	Het
Pknox1	A	T	17: 31,822,177 (GRCm39)	R315*	probably null	Het
Rasgrp1	C	T	2: 117,115,410 (GRCm39)	W726*	probably null	Het
Rassf8	G	A	6: 145,762,859 (GRCm39)	R402H	probably damaging	Het
Rev3l	T	A	10: 39,698,775 (GRCm39)	Y1091N	probably damaging	Het
Riok3	T	G	18: 12,282,608 (GRCm39)	V349G	probably damaging	Het
Rps18	A	T	17: 34,174,110 (GRCm39)	V15E	probably damaging	Het
Rptor	A	T	11: 119,788,268 (GRCm39)	Y1323F	possibly damaging	Het
Rspry1	T	C	8: 95,385,378 (GRCm39)	C437R	probably damaging	Het
Sema5a	T	A	15: 32,686,875 (GRCm39)	Y996N	probably damaging	Het
Smarcad1	A	G	6: 65,091,313 (GRCm39)	I1011M	probably benign	Het
Supv3l1	A	T	10: 62,274,800 (GRCm39)	M295K	possibly damaging	Het
Sv2c	T	C	13: 96,113,134 (GRCm39)	D605G	probably damaging	Het
Teddm1b	G	A	1: 153,750,947 (GRCm39)	W252*	probably null	Het
Tes	T	A	6: 17,086,195 (GRCm39)	C29*	probably null	Het
Thsd4	A	G	9: 59,890,030 (GRCm39)	W856R	probably damaging	Het
Treml4	A	T	17: 48,571,876 (GRCm39)	D93V	possibly damaging	Het
Trim66	T	C	7: 109,082,300 (GRCm39)	T218A	probably damaging	Het
Tssk5	T	C	15: 76,257,973 (GRCm39)	D128G	probably damaging	Het
Ubr3	T	A	2: 69,850,819 (GRCm39)	W1746R	probably damaging	Het
Vmn2r11	T	C	5: 109,201,434 (GRCm39)	I357V	probably benign	Het
Vmn2r87	A	T	10: 130,315,807 (GRCm39)	D86E	probably benign	Het
Zfp184	T	G	13: 22,144,377 (GRCm39)	H694Q	probably damaging	Het
Zranb3	A	C	1: 127,927,141 (GRCm39)	F341L	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
R4885:Nkx6-3	UTSW	8	23,643,914 (GRCm39)	missense	possibly damaging	0.95
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
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'- ACTGACATCCTGAGCAGACC -3'
(R):5'- CCTGTGCTAGGTAGAAGTAGGG -3'

Sequencing Primer
(F):5'- ACATCCTGAGCAGACCGGTTG -3'
(R):5'- TGTGCTAGGTAGAAGTAGGGAGGAG -3'

Posted On

2018-02-27