Mutagenetix > Incidental Mutation

Incidental Mutation 'R9781:Hrnr'

734030

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 #

R9781 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93227056-93240877 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93239696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 3311 (R3311S)

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: R3134S

SMART Domains

Protein: ENSMUSP00000088369
Gene: ENSMUSG00000041991
AA Change: R3134S

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: R3311S

SMART Domains

Protein: ENSMUSP00000091288
Gene: ENSMUSG00000041991
AA Change: R3311S

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: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.1%

Validation Efficiency

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: 128,519,860 (GRCm39)	F1386L	probably benign	Het
Aoc1l2	G	A	6: 48,907,660 (GRCm39)	S220N	possibly damaging	Het
Ap3d1	A	C	10: 80,545,609 (GRCm39)	L1040R	possibly damaging	Het
Bag4	T	A	8: 26,259,564 (GRCm39)	N212Y	probably damaging	Het
Bop1	A	T	15: 76,338,041 (GRCm39)	S610T	probably damaging	Het
Car12	T	G	9: 66,624,844 (GRCm39)	S30A	probably benign	Het
Ccdc14	A	T	16: 34,543,984 (GRCm39)	T829S	possibly damaging	Het
Ccn6	T	A	10: 39,027,167 (GRCm39)	*355L	probably null	Het
Cdc14a	A	T	3: 116,122,274 (GRCm39)	I231N	probably benign	Het
Ceacam14	A	T	7: 17,549,082 (GRCm39)	I158F	possibly damaging	Het
Clca4a	G	T	3: 144,667,713 (GRCm39)	S419R	probably benign	Het
Clec2g	A	G	6: 128,960,012 (GRCm39)	N258D	probably benign	Het
Cntn5	A	C	9: 10,048,686 (GRCm39)		probably null	Het
Col5a3	T	A	9: 20,721,272 (GRCm39)	S72C	unknown	Het
Dmbt1	G	C	7: 130,639,599 (GRCm39)	V46L	probably benign	Het
Dnah7b	A	G	1: 46,376,754 (GRCm39)		probably null	Het
Dnase1	T	C	16: 3,857,054 (GRCm39)	S204P	probably benign	Het
Dnhd1	A	G	7: 105,352,917 (GRCm39)	E2690G	probably benign	Het
Dst	T	C	1: 34,218,075 (GRCm39)	L1505P	probably benign	Het
Dzip1	G	A	14: 119,148,834 (GRCm39)	L282F	probably benign	Het
E330034G19Rik	A	G	14: 24,359,528 (GRCm39)	E313G	unknown	Het
Epc1	A	T	18: 6,455,187 (GRCm39)		probably null	Het
Herc1	T	C	9: 66,280,004 (GRCm39)	M304T	probably benign	Het
Herc2	A	T	7: 55,750,096 (GRCm39)	I594F	possibly damaging	Het
Hivep2	T	A	10: 14,005,828 (GRCm39)	S809T	probably benign	Het
Hnrnph3	A	T	10: 62,853,861 (GRCm39)	M132K	unknown	Het
Jph3	T	C	8: 122,457,380 (GRCm39)	F7L	probably damaging	Het
Med13l	C	T	5: 118,868,032 (GRCm39)	T732M	possibly damaging	Het
Mocos	A	T	18: 24,828,939 (GRCm39)	H748L	probably benign	Het
Mrc1	A	G	2: 14,249,100 (GRCm39)	H212R	probably benign	Het
Mrc1	A	T	2: 14,310,175 (GRCm39)	Y812F	possibly damaging	Het
Mthfr	T	C	4: 148,132,710 (GRCm39)	I296T	probably damaging	Het
Ncdn	G	A	4: 126,642,467 (GRCm39)	R397W	probably damaging	Het
Nefh	G	A	11: 4,895,271 (GRCm39)	T306I	probably damaging	Het
Nme7	C	A	1: 164,155,890 (GRCm39)	A30E	possibly damaging	Het
Or52z15	T	A	7: 103,332,246 (GRCm39)	M97K	probably damaging	Het
Pappa	T	A	4: 65,043,104 (GRCm39)	L109Q	possibly damaging	Het
Pcdha2	A	G	18: 37,074,102 (GRCm39)	S578G	probably benign	Het
Pcf11	A	T	7: 92,297,228 (GRCm39)	D1361E	possibly damaging	Het
Pcm1	T	C	8: 41,720,398 (GRCm39)	S320P	probably damaging	Het
Pex19	T	A	1: 171,956,855 (GRCm39)	F105Y	probably damaging	Het
Pgap4	C	T	4: 49,586,890 (GRCm39)	V93I	probably benign	Het
Pggt1b	A	T	18: 46,392,779 (GRCm39)	M124K	probably damaging	Het
Phkg1	T	A	5: 129,895,807 (GRCm39)	H148L	probably damaging	Het
Phlpp2	G	T	8: 110,662,178 (GRCm39)	R855L	possibly damaging	Het
Pkhd1	T	A	1: 20,187,665 (GRCm39)	I3548L	possibly damaging	Het
Plce1	T	G	19: 38,513,654 (GRCm39)	S318A	probably damaging	Het
Plcxd2	A	G	16: 45,830,117 (GRCm39)	W35R	probably benign	Het
Prl2b1	T	A	13: 27,569,129 (GRCm39)	E156D	possibly damaging	Het
Ptpn21	A	G	12: 98,655,170 (GRCm39)	V599A	probably damaging	Het
Raly	T	C	2: 154,699,265 (GRCm39)	V23A	probably damaging	Het
Rapgef3	T	C	15: 97,643,479 (GRCm39)	I911V	probably damaging	Het
Rhbdl1	A	G	17: 26,055,443 (GRCm39)	V48A	probably benign	Het
Rhpn1	C	T	15: 75,582,543 (GRCm39)	Q212*	probably null	Het
Sec24b	G	T	3: 129,789,742 (GRCm39)	P760T	probably damaging	Het
Septin8	C	A	11: 53,422,889 (GRCm39)	Q33K	probably damaging	Het
Serpinb6a	T	C	13: 34,109,346 (GRCm39)	T150A	probably benign	Het
Shmt1	A	T	11: 60,692,329 (GRCm39)	H142Q	probably damaging	Het
Slc27a3	G	A	3: 90,296,591 (GRCm39)	S127L		Het
Slc4a5	G	A	6: 83,239,466 (GRCm39)	A242T	probably benign	Het
Sphkap	G	A	1: 83,255,772 (GRCm39)	T659I	possibly damaging	Het
Ssbp3	T	C	4: 106,905,224 (GRCm39)	S381P	probably damaging	Het
Stxbp5l	C	T	16: 37,165,485 (GRCm39)	D78N	probably benign	Het
Suv39h2	G	T	2: 3,463,631 (GRCm39)	Q362K	probably benign	Het
Tcerg1	G	A	18: 42,701,030 (GRCm39)	R828Q	probably damaging	Het
Tgm2	T	G	2: 157,971,321 (GRCm39)	D306A	probably damaging	Het
Tmem79	A	G	3: 88,239,931 (GRCm39)	C260R	possibly damaging	Het
Ubn2	C	A	6: 38,466,190 (GRCm39)	A508E	probably benign	Het
Uggt2	T	A	14: 119,232,384 (GRCm39)	H1489L	possibly damaging	Het
Wnt16	T	C	6: 22,291,114 (GRCm39)	F181L	probably damaging	Het
Zfp326	T	C	5: 106,062,825 (GRCm39)	F565L	unknown	Het
Zfp62	T	A	11: 49,106,297 (GRCm39)	C129*	probably null	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
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
R9785:Hrnr	UTSW	3	93,238,861 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATGGGTCTGGTTCCTATCCC -3'
(R):5'- CTATGAGGTCCTGAGACTGTGTTTC -3'

Sequencing Primer
(F):5'- CTCTTCTAACTCCAGACAAAACTGTC -3'
(R):5'- CTGAGACTGTGTTTCTCATTCCAAAG -3'

Posted On

2022-11-14