Mutagenetix > Incidental Mutation

Incidental Mutation 'R6256:Hrnr'

506097

Institutional Source

Beutler Lab

Gene Symbol

Hrnr

Ensembl Gene

ENSMUSG00000041991

Gene Name

hornerin

Synonyms

1110033K19Rik, A530063N20Rik, S100a18

MMRRC Submission

044373-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6256 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93227056-93240877 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93229918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 52 (D52G)

Ref Sequence

ENSEMBL: ENSMUSP00000091288 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000090856
AA Change: D52G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088369
Gene: ENSMUSG00000041991
AA Change: D52G

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

probably damaging
Transcript: ENSMUST00000093774
AA Change: D52G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091288
Gene: ENSMUSG00000041991
AA Change: D52G

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

Meta Mutation Damage Score

0.1860

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 73,205,272 (GRCm39)	Q361L	probably damaging	Het
Abca7	A	G	10: 79,838,456 (GRCm39)	T577A	probably damaging	Het
Acad12	A	T	5: 121,752,149 (GRCm39)	V54E	probably benign	Het
Ago4	A	G	4: 126,414,019 (GRCm39)	Y91H	probably damaging	Het
Akr1b10	T	C	6: 34,364,623 (GRCm39)	V28A	probably damaging	Het
Ccdc33	T	A	9: 58,009,201 (GRCm39)		probably null	Het
Ccdc7a	T	C	8: 129,662,074 (GRCm39)		probably null	Het
Ces1f	A	T	8: 93,992,422 (GRCm39)	V343E	probably damaging	Het
Cftr	T	C	6: 18,274,660 (GRCm39)	L896P	probably damaging	Het
Csmd3	G	A	15: 47,533,125 (GRCm39)	P2375S	probably damaging	Het
Dnajb14	C	T	3: 137,614,124 (GRCm39)	A345V	probably damaging	Het
Dnajb14	G	C	3: 137,614,123 (GRCm39)	A345P	probably damaging	Het
Dnase1	G	A	16: 3,855,485 (GRCm39)	R24K	probably benign	Het
Dnmbp	C	T	19: 43,840,720 (GRCm39)	V560M	probably damaging	Het
Dop1b	T	A	16: 93,604,102 (GRCm39)	I1981N	possibly damaging	Het
Eif3a	A	C	19: 60,759,464 (GRCm39)	S770A	possibly damaging	Het
Fbxl7	A	T	15: 26,553,088 (GRCm39)	C60S	probably benign	Het
Fras1	A	T	5: 96,881,702 (GRCm39)	D2478V	possibly damaging	Het
Jmjd1c	T	A	10: 67,056,187 (GRCm39)	L823M	probably damaging	Het
Kdm1a	G	T	4: 136,295,911 (GRCm39)	C172*	probably null	Het
Kdm6b	C	T	11: 69,297,555 (GRCm39)	E295K	probably damaging	Het
Mepe	A	T	5: 104,484,940 (GRCm39)	M27L	probably benign	Het
Mogat2	A	T	7: 98,869,102 (GRCm39)	H305Q	probably damaging	Het
Mst1r	T	A	9: 107,794,465 (GRCm39)	Y1215N	probably damaging	Het
Muc5ac	A	T	7: 141,343,532 (GRCm39)	H48L	possibly damaging	Het
Myo7b	T	C	18: 32,116,748 (GRCm39)	D953G	probably damaging	Het
Ocel1	T	C	8: 71,824,472 (GRCm39)		probably benign	Het
Pcdhb6	A	G	18: 37,468,978 (GRCm39)	D633G	probably damaging	Het
Ppm1l	A	G	3: 69,405,230 (GRCm39)	I176V	probably benign	Het
Sall3	C	T	18: 81,013,076 (GRCm39)	R1120H	possibly damaging	Het
Sbf1	G	A	15: 89,185,070 (GRCm39)	P1018S	probably benign	Het
Setbp1	T	C	18: 78,900,472 (GRCm39)	Y1065C	probably damaging	Het
Slc25a2	T	C	18: 37,770,776 (GRCm39)		probably null	Het
Slc4a2	C	A	5: 24,640,888 (GRCm39)	T729K	probably damaging	Het
Sptlc2	T	C	12: 87,402,305 (GRCm39)	E207G	probably damaging	Het
Sult6b1	A	T	17: 79,214,343 (GRCm39)	F27I	probably benign	Het
Syf2	A	T	4: 134,661,889 (GRCm39)	K84N	probably damaging	Het
Tmem209	A	T	6: 30,497,166 (GRCm39)	N183K	probably benign	Het
Tmem232	G	T	17: 65,785,397 (GRCm39)	Q188K	possibly damaging	Het
Tomm70a	A	T	16: 56,973,055 (GRCm39)	T598S	probably benign	Het
Ttll13	A	G	7: 79,908,052 (GRCm39)	T556A	probably benign	Het
Vmn2r120	A	T	17: 57,831,700 (GRCm39)	L363*	probably null	Het
Xpo6	G	T	7: 125,707,791 (GRCm39)	Q872K	probably damaging	Het
Xrra1	A	C	7: 99,563,671 (GRCm39)	S553R	probably damaging	Het
Zfy1	A	T	Y: 738,765 (GRCm39)	V147E	unknown	Homo
Zfy2	T	C	Y: 2,116,267 (GRCm39)	I258V	probably benign	Homo

Other mutations in Hrnr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00848:Hrnr	APN	3	93,230,204 (GRCm39)	missense	unknown
IGL02326:Hrnr	APN	3	93,231,052 (GRCm39)	missense	unknown
IGL03030:Hrnr	APN	3	93,227,908 (GRCm39)	missense	possibly damaging	0.91
IGL03281:Hrnr	APN	3	93,230,158 (GRCm39)	missense	probably benign	0.04
R0140:Hrnr	UTSW	3	93,238,800 (GRCm39)	nonsense	probably null
R0709:Hrnr	UTSW	3	93,239,815 (GRCm39)	missense	unknown
R1179:Hrnr	UTSW	3	93,239,850 (GRCm39)	missense	unknown
R1528:Hrnr	UTSW	3	93,230,101 (GRCm39)	missense	possibly damaging	0.56
R1640:Hrnr	UTSW	3	93,239,823 (GRCm39)	missense	unknown
R1987:Hrnr	UTSW	3	93,239,911 (GRCm39)	missense	unknown
R1988:Hrnr	UTSW	3	93,239,911 (GRCm39)	missense	unknown
R3846:Hrnr	UTSW	3	93,239,464 (GRCm39)	missense	unknown
R3871:Hrnr	UTSW	3	93,239,181 (GRCm39)	missense	unknown
R3938:Hrnr	UTSW	3	93,230,162 (GRCm39)	missense	probably benign	0.35
R4569:Hrnr	UTSW	3	93,230,875 (GRCm39)	missense	unknown
R4690:Hrnr	UTSW	3	93,230,959 (GRCm39)	missense	unknown
R4761:Hrnr	UTSW	3	93,230,062 (GRCm39)	missense	probably damaging	0.96
R5182:Hrnr	UTSW	3	93,239,450 (GRCm39)	missense	unknown
R5292:Hrnr	UTSW	3	93,239,199 (GRCm39)	missense	unknown
R5739:Hrnr	UTSW	3	93,230,436 (GRCm39)	missense	unknown
R5845:Hrnr	UTSW	3	93,239,944 (GRCm39)	missense	unknown
R5994:Hrnr	UTSW	3	93,239,607 (GRCm39)	missense	unknown
R6169:Hrnr	UTSW	3	93,233,062 (GRCm39)	nonsense	probably null
R6216:Hrnr	UTSW	3	93,239,469 (GRCm39)	missense	unknown
R6670:Hrnr	UTSW	3	93,239,192 (GRCm39)	missense	unknown
R6790:Hrnr	UTSW	3	93,236,382 (GRCm39)	missense	unknown
R6936:Hrnr	UTSW	3	93,239,667 (GRCm39)	missense	unknown
R7049:Hrnr	UTSW	3	93,230,461 (GRCm39)	nonsense	probably null
R7358:Hrnr	UTSW	3	93,230,448 (GRCm39)	nonsense	probably null
R7383:Hrnr	UTSW	3	93,239,098 (GRCm39)	missense	unknown
R7724:Hrnr	UTSW	3	93,230,323 (GRCm39)	missense	unknown
R7762:Hrnr	UTSW	3	93,239,506 (GRCm39)	missense	unknown
R7945:Hrnr	UTSW	3	93,239,506 (GRCm39)	missense	unknown
R8086:Hrnr	UTSW	3	93,230,728 (GRCm39)	missense	unknown
R8115:Hrnr	UTSW	3	93,231,039 (GRCm39)	missense	unknown
R8383:Hrnr	UTSW	3	93,239,653 (GRCm39)	missense	unknown
R8685:Hrnr	UTSW	3	93,230,205 (GRCm39)	missense	unknown
R8809:Hrnr	UTSW	3	93,239,443 (GRCm39)	missense	unknown
R9123:Hrnr	UTSW	3	93,238,863 (GRCm39)	missense	unknown
R9125:Hrnr	UTSW	3	93,238,863 (GRCm39)	missense	unknown
R9129:Hrnr	UTSW	3	93,231,277 (GRCm39)	missense	unknown
R9572:Hrnr	UTSW	3	93,239,467 (GRCm39)	missense	unknown
R9627:Hrnr	UTSW	3	93,233,235 (GRCm39)	missense	unknown
R9698:Hrnr	UTSW	3	93,233,094 (GRCm39)	missense	unknown
R9717:Hrnr	UTSW	3	93,227,987 (GRCm39)	missense	probably damaging	1.00
R9749:Hrnr	UTSW	3	93,231,384 (GRCm39)	missense	unknown
R9781:Hrnr	UTSW	3	93,239,696 (GRCm39)	missense	unknown
R9785:Hrnr	UTSW	3	93,238,861 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCTAACAGGCCAACTTGCTC -3'
(R):5'- TGAGCCCCTGGAATAAGAGTC -3'

Sequencing Primer
(F):5'- AACAGGCCAACTTGCTCCTCTC -3'
(R):5'- GAGCCCCTGGAATAAGAGTCATTCTC -3'

Posted On

2018-02-28