Mutagenetix > Incidental Mutation

Incidental Mutation 'R3871:Hrnr'

276554

Institutional Source

Beutler Lab

Gene Symbol

Hrnr

Ensembl Gene

ENSMUSG00000041991

Gene Name

hornerin

Synonyms

1110033K19Rik, S100a18, A530063N20Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3871 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93319749-93333570 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 93331874 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 3140 (S3140T)

Ref Sequence

ENSEMBL: ENSMUSP00000091288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090856] [ENSMUST00000093774]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000090856
AA Change: S2963T

SMART Domains

Protein: ENSMUSP00000088369
Gene: ENSMUSG00000041991
AA Change: S2963T

Domain	Start	End	E-Value	Type
Pfam:S_100	4	47	4.8e-15	PFAM
Blast:EFh	53	81	6e-9	BLAST
internal_repeat_5	95	129	7.19e-7	PROSPERO
low complexity region	135	155	N/A	INTRINSIC
low complexity region	157	168	N/A	INTRINSIC
low complexity region	183	197	N/A	INTRINSIC
low complexity region	200	246	N/A	INTRINSIC
low complexity region	255	287	N/A	INTRINSIC
internal_repeat_2	288	341	5.7e-19	PROSPERO
internal_repeat_1	291	354	5.27e-23	PROSPERO
internal_repeat_3	301	355	9.03e-17	PROSPERO
internal_repeat_5	309	343	7.19e-7	PROSPERO
low complexity region	358	379	N/A	INTRINSIC
low complexity region	394	415	N/A	INTRINSIC
low complexity region	421	498	N/A	INTRINSIC
low complexity region	501	523	N/A	INTRINSIC
low complexity region	527	593	N/A	INTRINSIC
low complexity region	598	675	N/A	INTRINSIC
low complexity region	679	713	N/A	INTRINSIC
low complexity region	723	764	N/A	INTRINSIC
low complexity region	769	846	N/A	INTRINSIC
low complexity region	849	871	N/A	INTRINSIC
low complexity region	875	941	N/A	INTRINSIC
low complexity region	946	1023	N/A	INTRINSIC
low complexity region	1027	1061	N/A	INTRINSIC
low complexity region	1084	1112	N/A	INTRINSIC
low complexity region	1117	1194	N/A	INTRINSIC
low complexity region	1197	1219	N/A	INTRINSIC
low complexity region	1223	1289	N/A	INTRINSIC
low complexity region	1294	1371	N/A	INTRINSIC
low complexity region	1375	1409	N/A	INTRINSIC
low complexity region	1419	1460	N/A	INTRINSIC
low complexity region	1465	1542	N/A	INTRINSIC
low complexity region	1545	1567	N/A	INTRINSIC
low complexity region	1571	1637	N/A	INTRINSIC
low complexity region	1642	1719	N/A	INTRINSIC
low complexity region	1723	1757	N/A	INTRINSIC
low complexity region	1767	1808	N/A	INTRINSIC
low complexity region	1813	1890	N/A	INTRINSIC
low complexity region	1893	1915	N/A	INTRINSIC
low complexity region	1919	1985	N/A	INTRINSIC
low complexity region	1990	2067	N/A	INTRINSIC
low complexity region	2071	2105	N/A	INTRINSIC
low complexity region	2115	2156	N/A	INTRINSIC
low complexity region	2161	2238	N/A	INTRINSIC
low complexity region	2242	2327	N/A	INTRINSIC
low complexity region	2332	2409	N/A	INTRINSIC
low complexity region	2413	2447	N/A	INTRINSIC
low complexity region	2457	2498	N/A	INTRINSIC
low complexity region	2503	2580	N/A	INTRINSIC
low complexity region	2583	2605	N/A	INTRINSIC
low complexity region	2609	2675	N/A	INTRINSIC
low complexity region	2680	2757	N/A	INTRINSIC
low complexity region	2761	2795	N/A	INTRINSIC
low complexity region	2805	2846	N/A	INTRINSIC
low complexity region	2851	2896	N/A	INTRINSIC
internal_repeat_4	2897	2968	4.19e-13	PROSPERO
internal_repeat_3	2901	2955	9.03e-17	PROSPERO
internal_repeat_2	2920	2967	5.7e-19	PROSPERO
low complexity region	2969	2985	N/A	INTRINSIC
low complexity region	3016	3034	N/A	INTRINSIC
internal_repeat_1	3039	3101	5.27e-23	PROSPERO
internal_repeat_4	3045	3103	4.19e-13	PROSPERO
low complexity region	3140	3153	N/A	INTRINSIC
low complexity region	3163	3174	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000093774
AA Change: S3140T

SMART Domains

Protein: ENSMUSP00000091288
Gene: ENSMUSG00000041991
AA Change: S3140T

Domain	Start	End	E-Value	Type
Pfam:S_100	4	46	3.1e-17	PFAM
Blast:EFh	53	81	6e-9	BLAST
internal_repeat_5	95	129	5.9e-7	PROSPERO
low complexity region	135	155	N/A	INTRINSIC
low complexity region	157	168	N/A	INTRINSIC
low complexity region	183	197	N/A	INTRINSIC
low complexity region	200	246	N/A	INTRINSIC
low complexity region	255	287	N/A	INTRINSIC
internal_repeat_2	288	341	3.49e-19	PROSPERO
internal_repeat_1	291	354	2.93e-23	PROSPERO
internal_repeat_3	301	355	5.83e-17	PROSPERO
internal_repeat_5	309	343	5.9e-7	PROSPERO
low complexity region	358	379	N/A	INTRINSIC
low complexity region	394	415	N/A	INTRINSIC
low complexity region	421	498	N/A	INTRINSIC
low complexity region	501	523	N/A	INTRINSIC
low complexity region	527	593	N/A	INTRINSIC
low complexity region	598	675	N/A	INTRINSIC
low complexity region	679	713	N/A	INTRINSIC
low complexity region	723	764	N/A	INTRINSIC
low complexity region	769	846	N/A	INTRINSIC
low complexity region	849	871	N/A	INTRINSIC
low complexity region	875	941	N/A	INTRINSIC
low complexity region	946	1023	N/A	INTRINSIC
low complexity region	1027	1061	N/A	INTRINSIC
low complexity region	1084	1112	N/A	INTRINSIC
low complexity region	1117	1194	N/A	INTRINSIC
low complexity region	1197	1219	N/A	INTRINSIC
low complexity region	1223	1289	N/A	INTRINSIC
low complexity region	1294	1371	N/A	INTRINSIC
low complexity region	1375	1409	N/A	INTRINSIC
low complexity region	1419	1460	N/A	INTRINSIC
low complexity region	1465	1542	N/A	INTRINSIC
low complexity region	1545	1567	N/A	INTRINSIC
low complexity region	1571	1637	N/A	INTRINSIC
low complexity region	1642	1719	N/A	INTRINSIC
low complexity region	1723	1757	N/A	INTRINSIC
low complexity region	1767	1808	N/A	INTRINSIC
low complexity region	1813	1890	N/A	INTRINSIC
low complexity region	1893	1915	N/A	INTRINSIC
low complexity region	1919	1985	N/A	INTRINSIC
low complexity region	1990	2067	N/A	INTRINSIC
low complexity region	2071	2105	N/A	INTRINSIC
low complexity region	2115	2156	N/A	INTRINSIC
low complexity region	2161	2238	N/A	INTRINSIC
low complexity region	2242	2276	N/A	INTRINSIC
low complexity region	2286	2327	N/A	INTRINSIC
low complexity region	2332	2409	N/A	INTRINSIC
low complexity region	2412	2434	N/A	INTRINSIC
low complexity region	2438	2504	N/A	INTRINSIC
low complexity region	2509	2586	N/A	INTRINSIC
low complexity region	2590	2624	N/A	INTRINSIC
low complexity region	2634	2675	N/A	INTRINSIC
low complexity region	2680	2757	N/A	INTRINSIC
low complexity region	2760	2782	N/A	INTRINSIC
low complexity region	2786	2852	N/A	INTRINSIC
low complexity region	2857	2934	N/A	INTRINSIC
low complexity region	2938	2972	N/A	INTRINSIC
low complexity region	2982	3023	N/A	INTRINSIC
low complexity region	3028	3073	N/A	INTRINSIC
internal_repeat_4	3074	3145	2.96e-13	PROSPERO
internal_repeat_3	3078	3132	5.83e-17	PROSPERO
internal_repeat_2	3097	3144	3.49e-19	PROSPERO
low complexity region	3146	3162	N/A	INTRINSIC
low complexity region	3193	3211	N/A	INTRINSIC
internal_repeat_1	3216	3278	2.93e-23	PROSPERO
internal_repeat_4	3222	3280	2.96e-13	PROSPERO
low complexity region	3317	3330	N/A	INTRINSIC
low complexity region	3340	3351	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195137

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a1	T	A	19: 20,624,753 (GRCm38)	Y225*	probably null	Het
Bard1	T	C	1: 71,074,940 (GRCm38)	K294R	probably benign	Het
Bcap29	A	T	12: 31,617,081 (GRCm38)	S194T	probably benign	Het
Ccdc40	G	A	11: 119,264,281 (GRCm38)	V1116M	probably damaging	Het
Cntnap5a	A	G	1: 116,060,249 (GRCm38)	E170G	probably damaging	Het
Crygs	C	T	16: 22,805,551 (GRCm38)	G102D	possibly damaging	Het
Cyp2c54	T	C	19: 40,072,423 (GRCm38)	D92G	probably benign	Het
Dpp6	T	C	5: 27,469,465 (GRCm38)	F197L	probably benign	Het
Filip1l	G	T	16: 57,513,286 (GRCm38)	K147N	probably damaging	Het
Igfn1	G	T	1: 135,968,836 (GRCm38)	H1331N	probably benign	Het
Kalrn	C	T	16: 34,203,856 (GRCm38)		probably null	Het
Kmt2d	TTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGC	15: 98,851,021 (GRCm38)		probably benign	Het
Mfng	A	G	15: 78,756,621 (GRCm38)	L308P	probably damaging	Het
Nt5e	C	A	9: 88,364,693 (GRCm38)	N327K	probably benign	Het
Olfr1025-ps1	T	G	2: 85,918,582 (GRCm38)		probably null	Het
Pgbd1	C	T	13: 21,434,370 (GRCm38)	R39H	possibly damaging	Het
Phactr4	T	C	4: 132,377,249 (GRCm38)	T256A	probably benign	Het
Rab24	T	C	13: 55,321,179 (GRCm38)	D63G	probably damaging	Het
Rubcnl	C	T	14: 75,040,916 (GRCm38)	P380L	probably benign	Het
Satb2	A	G	1: 56,891,220 (GRCm38)	S215P	probably damaging	Het
Serpina3b	A	T	12: 104,138,788 (GRCm38)	I408F	probably damaging	Het
Setx	A	G	2: 29,145,741 (GRCm38)	D746G	probably damaging	Het
Sf3a2	A	C	10: 80,804,693 (GRCm38)		probably benign	Het
Snx33	T	C	9: 56,926,740 (GRCm38)	N15S	probably benign	Het
Snx9	C	T	17: 5,891,781 (GRCm38)	P61L	probably benign	Het
Sult2a6	T	C	7: 14,254,776 (GRCm38)	K20E	probably benign	Het
Tas2r122	A	G	6: 132,711,580 (GRCm38)	S117P	probably benign	Het
Tmem26	G	A	10: 68,778,732 (GRCm38)	E326K	probably benign	Het
Tnpo2	T	A	8: 85,054,751 (GRCm38)	C789S	probably null	Het
Togaram1	A	C	12: 65,002,645 (GRCm38)	E1285D	probably benign	Het
Ubxn7	T	A	16: 32,381,430 (GRCm38)	S335T	possibly damaging	Het
Unc119b	G	A	5: 115,130,508 (GRCm38)	T106M	probably damaging	Het
Usp14	A	G	18: 10,002,370 (GRCm38)	S314P	possibly damaging	Het
Usp32	T	C	11: 85,081,156 (GRCm38)	D129G	probably null	Het

Other mutations in Hrnr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Hrnr	APN	3	93,322,897 (GRCm38)	missense	unknown
IGL02326:Hrnr	APN	3	93,323,745 (GRCm38)	missense	unknown
IGL03030:Hrnr	APN	3	93,320,601 (GRCm38)	missense	possibly damaging	0.91
IGL03281:Hrnr	APN	3	93,322,851 (GRCm38)	missense	probably benign	0.04
R0140:Hrnr	UTSW	3	93,331,493 (GRCm38)	nonsense	probably null
R0709:Hrnr	UTSW	3	93,332,508 (GRCm38)	missense	unknown
R1179:Hrnr	UTSW	3	93,332,543 (GRCm38)	missense	unknown
R1528:Hrnr	UTSW	3	93,322,794 (GRCm38)	missense	possibly damaging	0.56
R1640:Hrnr	UTSW	3	93,332,516 (GRCm38)	missense	unknown
R1987:Hrnr	UTSW	3	93,332,604 (GRCm38)	missense	unknown
R1988:Hrnr	UTSW	3	93,332,604 (GRCm38)	missense	unknown
R3846:Hrnr	UTSW	3	93,332,157 (GRCm38)	missense	unknown
R3938:Hrnr	UTSW	3	93,322,855 (GRCm38)	missense	probably benign	0.35
R4569:Hrnr	UTSW	3	93,323,568 (GRCm38)	missense	unknown
R4690:Hrnr	UTSW	3	93,323,652 (GRCm38)	missense	unknown
R4761:Hrnr	UTSW	3	93,322,755 (GRCm38)	missense	probably damaging	0.96
R5182:Hrnr	UTSW	3	93,332,143 (GRCm38)	missense	unknown
R5292:Hrnr	UTSW	3	93,331,892 (GRCm38)	missense	unknown
R5739:Hrnr	UTSW	3	93,323,129 (GRCm38)	missense	unknown
R5845:Hrnr	UTSW	3	93,332,637 (GRCm38)	missense	unknown
R5994:Hrnr	UTSW	3	93,332,300 (GRCm38)	missense	unknown
R6169:Hrnr	UTSW	3	93,325,755 (GRCm38)	nonsense	probably null
R6216:Hrnr	UTSW	3	93,332,162 (GRCm38)	missense	unknown
R6256:Hrnr	UTSW	3	93,322,611 (GRCm38)	missense	probably damaging	1.00
R6670:Hrnr	UTSW	3	93,331,885 (GRCm38)	missense	unknown
R6790:Hrnr	UTSW	3	93,329,075 (GRCm38)	missense	unknown
R6936:Hrnr	UTSW	3	93,332,360 (GRCm38)	missense	unknown
R7049:Hrnr	UTSW	3	93,323,154 (GRCm38)	nonsense	probably null
R7358:Hrnr	UTSW	3	93,323,141 (GRCm38)	nonsense	probably null
R7383:Hrnr	UTSW	3	93,331,791 (GRCm38)	missense	unknown
R7724:Hrnr	UTSW	3	93,323,016 (GRCm38)	missense	unknown
R7762:Hrnr	UTSW	3	93,332,199 (GRCm38)	missense	unknown
R7945:Hrnr	UTSW	3	93,332,199 (GRCm38)	missense	unknown
R8086:Hrnr	UTSW	3	93,323,421 (GRCm38)	missense	unknown
R8115:Hrnr	UTSW	3	93,323,732 (GRCm38)	missense	unknown
R8383:Hrnr	UTSW	3	93,332,346 (GRCm38)	missense	unknown
R8685:Hrnr	UTSW	3	93,322,898 (GRCm38)	missense	unknown
R8809:Hrnr	UTSW	3	93,332,136 (GRCm38)	missense	unknown
R9123:Hrnr	UTSW	3	93,331,556 (GRCm38)	missense	unknown
R9125:Hrnr	UTSW	3	93,331,556 (GRCm38)	missense	unknown
R9129:Hrnr	UTSW	3	93,323,970 (GRCm38)	missense	unknown
R9572:Hrnr	UTSW	3	93,332,160 (GRCm38)	missense	unknown
R9627:Hrnr	UTSW	3	93,325,928 (GRCm38)	missense	unknown
R9698:Hrnr	UTSW	3	93,325,787 (GRCm38)	missense	unknown
R9717:Hrnr	UTSW	3	93,320,680 (GRCm38)	missense	probably damaging	1.00
R9749:Hrnr	UTSW	3	93,324,077 (GRCm38)	missense	unknown
R9781:Hrnr	UTSW	3	93,332,389 (GRCm38)	missense	unknown
R9785:Hrnr	UTSW	3	93,331,554 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATCGGTCTTGTCAAAGCCAG -3'
(R):5'- ACACTGACCACCGCAGTATG -3'

Sequencing Primer
(F):5'- CTCTCACAATGGGCAATGTG -3'
(R):5'- CAGTATGACTGTCCTGATGCAG -3'

Posted On

2015-04-06