Mutagenetix > Incidental Mutation

Incidental Mutation 'R9129:Hrnr'

693454

Institutional Source

Beutler Lab

Gene Symbol

Hrnr

Ensembl Gene

ENSMUSG00000041991

Gene Name

hornerin

Synonyms

1110033K19Rik, A530063N20Rik, S100a18

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9129 (G1)

Quality Score

221.009

Status

Not validated

Chromosome

Chromosomal Location

93227056-93240877 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93231277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 505 (H505R)

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: H505R

SMART Domains

Protein: ENSMUSP00000088369
Gene: ENSMUSG00000041991
AA Change: H505R

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: H505R

SMART Domains

Protein: ENSMUSP00000091288
Gene: ENSMUSG00000041991
AA Change: H505R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,523,223 (GRCm39)	S1238P	probably damaging	Het
Akap9	T	C	5: 4,119,089 (GRCm39)	L3532S	probably benign	Het
Ankfn1	A	G	11: 89,312,042 (GRCm39)	L701P		Het
Aph1b	A	C	9: 66,686,595 (GRCm39)	I225S	probably benign	Het
Asic4	A	T	1: 75,446,469 (GRCm39)	H337L	possibly damaging	Het
Atp8b3	T	C	10: 80,368,412 (GRCm39)	E187G	probably damaging	Het
Atp9a	A	G	2: 168,517,205 (GRCm39)	M376T	probably benign	Het
Bod1l	G	T	5: 41,976,220 (GRCm39)	T1698K	probably damaging	Het
Cacna2d4	T	C	6: 119,313,415 (GRCm39)		probably null	Het
Catsper1	C	A	19: 5,390,402 (GRCm39)		probably benign	Het
Cd248	T	C	19: 5,120,140 (GRCm39)	S663P	probably benign	Het
Crispld2	A	T	8: 120,737,488 (GRCm39)	M80L	possibly damaging	Het
Cwc22	G	A	2: 77,726,659 (GRCm39)	Q807*	probably null	Het
Cyp2a4	T	C	7: 26,014,136 (GRCm39)	Y438H	probably benign	Het
Cyp2b23	A	T	7: 26,381,189 (GRCm39)		probably benign	Het
Dsp	T	A	13: 38,377,126 (GRCm39)	V1637D	probably benign	Het
Elovl1	A	T	4: 118,289,156 (GRCm39)	Y227F	possibly damaging	Het
Ern1	T	C	11: 106,300,946 (GRCm39)	K483E	probably benign	Het
Fzd2	T	C	11: 102,496,465 (GRCm39)	F303S	probably benign	Het
Gm9944	A	T	4: 144,179,763 (GRCm39)	V42D	unknown	Het
Grik5	G	A	7: 24,767,429 (GRCm39)		probably benign	Het
Hdac4	T	C	1: 91,909,929 (GRCm39)	D445G	probably benign	Het
Hinfp	C	T	9: 44,209,062 (GRCm39)	R352H	probably damaging	Het
Hsfy2	C	T	1: 56,675,752 (GRCm39)	D262N	probably benign	Het
Hspa4	G	A	11: 53,174,463 (GRCm39)	Q186*	probably null	Het
Ipo8	T	C	6: 148,700,125 (GRCm39)	H584R	probably benign	Het
Krtap8-1	T	A	16: 89,284,636 (GRCm39)	R54*	probably null	Het
Lama4	T	A	10: 38,932,887 (GRCm39)	Y588N	probably benign	Het
Lekr1	T	A	3: 65,591,426 (GRCm39)	Y54*	probably null	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Lypd10	A	G	7: 24,413,170 (GRCm39)	D163G	probably benign	Het
Lzts3	A	T	2: 130,476,865 (GRCm39)	Y528N	possibly damaging	Het
Mdn1	T	A	4: 32,676,812 (GRCm39)	V628E	probably benign	Het
Mgat5b	A	C	11: 116,859,348 (GRCm39)		probably benign	Het
Mical2	A	C	7: 111,870,589 (GRCm39)	K26T	possibly damaging	Het
Mllt10	C	T	2: 18,167,404 (GRCm39)	S443L	probably benign	Het
Mtf1	G	A	4: 124,698,913 (GRCm39)		probably benign	Het
Myom2	T	C	8: 15,154,068 (GRCm39)	F669L	probably damaging	Het
Nlrp9c	A	T	7: 26,077,428 (GRCm39)		probably null	Het
Nog	G	C	11: 89,192,602 (GRCm39)	S82W	probably damaging	Het
Ntrk2	A	G	13: 59,276,084 (GRCm39)	T795A	probably benign	Het
Or4a78	A	G	2: 89,497,930 (GRCm39)	F100S	probably damaging	Het
Or56a3b	G	A	7: 104,771,223 (GRCm39)	M186I	probably benign	Het
Or5m3	A	T	2: 85,838,356 (GRCm39)	M79L		Het
Or5w17	A	T	2: 87,584,048 (GRCm39)	F96L	probably benign	Het
Pira12	C	A	7: 3,898,500 (GRCm39)		probably null	Het
Prl6a1	A	T	13: 27,502,064 (GRCm39)	I144L		Het
Rab11fip5	A	G	6: 85,317,892 (GRCm39)	V999A	probably benign	Het
Serpinb6b	TTGTTTCTGT	TTGT	13: 33,162,139 (GRCm39)		probably benign	Het
Shisa6	A	G	11: 66,110,853 (GRCm39)	M296T	probably benign	Het
Slc18a1	T	A	8: 69,491,533 (GRCm39)	T494S	probably benign	Het
Slc22a29	T	G	19: 8,146,669 (GRCm39)	I378L	probably benign	Het
Slc23a2	C	T	2: 131,920,332 (GRCm39)		probably null	Het
Slc2a7	G	T	4: 150,243,001 (GRCm39)	R274L	probably benign	Het
Spta1	A	G	1: 174,058,911 (GRCm39)	T1949A	possibly damaging	Het
Szt2	A	G	4: 118,221,866 (GRCm39)	V3339A	unknown	Het
Tcp10a	G	A	17: 7,593,935 (GRCm39)	D87N	probably benign	Het
Tgm5	T	G	2: 120,877,270 (GRCm39)	Q638P	probably damaging	Het
Tmem145	A	G	7: 25,014,265 (GRCm39)	T460A	possibly damaging	Het
Ttc3	A	T	16: 94,185,208 (GRCm39)	M50L	probably benign	Het
Ush1c	A	G	7: 45,854,629 (GRCm39)	S708P	probably benign	Het
Vmn1r217	T	A	13: 23,298,876 (GRCm39)	T9S	probably benign	Het
Vmn1r26	T	C	6: 57,985,373 (GRCm39)	Y272C		Het
Vmn1r75	G	T	7: 11,614,513 (GRCm39)	A82S	probably benign	Het
Vmn2r117	T	A	17: 23,678,918 (GRCm39)	R769*	probably null	Het
Vps13b	C	A	15: 35,448,793 (GRCm39)	A589E	probably damaging	Het
Vps13d	G	A	4: 144,898,249 (GRCm39)	R304W		Het
Vps41	A	G	13: 19,011,775 (GRCm39)	E294G	probably benign	Het
Xpo7	T	C	14: 70,909,113 (GRCm39)	T802A	probably benign	Het
Ylpm1	T	A	12: 85,104,052 (GRCm39)	D2022E		Het
Zfp433	T	A	10: 81,555,724 (GRCm39)	C75*	probably null	Het
Zyg11a	A	T	4: 108,039,009 (GRCm39)	S737T	probably benign	Het

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
R6256:Hrnr	UTSW	3	93,229,918 (GRCm39)	missense	probably damaging	1.00
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
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'- GGATCTGGCTCAGGAAGATC -3'
(R):5'- ATGAGGCACCATATCGTCCTG -3'

Sequencing Primer
(F):5'- GCTCAGGAAGATCTTCTGGC -3'
(R):5'- AACCCTGTCTAGTGGAGCTAG -3'

Posted On

2022-01-20