Mutagenetix > Incidental Mutation

Incidental Mutation 'R1988:Hrnr'

222801

Institutional Source

Beutler Lab

Gene Symbol

Hrnr

Ensembl Gene

ENSMUSG00000041991

Gene Name

hornerin

Synonyms

1110033K19Rik, A530063N20Rik, S100a18

MMRRC Submission

040000-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1988 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93227056-93240877 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93239911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 3383 (N3383S)

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: N3206S

SMART Domains

Protein: ENSMUSP00000088369
Gene: ENSMUSG00000041991
AA Change: N3206S

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: N3383S

SMART Domains

Protein: ENSMUSP00000091288
Gene: ENSMUSG00000041991
AA Change: N3383S

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

0.0831

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.1%

Validation Efficiency

96% (79/82)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	A	6: 146,854,394 (GRCm39)	D216V	possibly damaging	Het
2610021A01Rik	C	T	7: 41,276,081 (GRCm39)	R595*	probably null	Het
Adgrl3	A	G	5: 81,836,414 (GRCm39)	D724G	probably damaging	Het
Akap6	T	C	12: 53,187,578 (GRCm39)	F1664S	possibly damaging	Het
Akt1	T	C	12: 112,621,585 (GRCm39)	I404V	probably benign	Het
Anxa13	T	A	15: 58,205,344 (GRCm39)		noncoding transcript	Het
Atoh1	T	C	6: 64,706,617 (GRCm39)	V104A	probably benign	Het
Brwd1	T	C	16: 95,822,437 (GRCm39)	D1256G	probably damaging	Het
C9	ATTTT	ATTT	15: 6,512,619 (GRCm39)		probably null	Het
Cd164	A	G	10: 41,399,177 (GRCm39)	T89A	probably benign	Het
Cep350	G	C	1: 155,808,850 (GRCm39)	N575K	possibly damaging	Het
Chrm5	A	G	2: 112,310,597 (GRCm39)	V173A	probably damaging	Het
Cnot1	A	G	8: 96,468,572 (GRCm39)	V1417A	possibly damaging	Het
Cntnap3	T	C	13: 64,906,204 (GRCm39)	T801A	probably damaging	Het
Cntnap5b	A	C	1: 99,999,865 (GRCm39)	K208Q	possibly damaging	Het
Crx	A	T	7: 15,603,272 (GRCm39)	V107D	possibly damaging	Het
Csrnp2	A	G	15: 100,387,321 (GRCm39)	F49S	probably damaging	Het
Ctbp1	A	G	5: 33,408,248 (GRCm39)	L228P	possibly damaging	Het
Ctdp1	A	T	18: 80,492,616 (GRCm39)	D626E	possibly damaging	Het
Cyp1a2	T	C	9: 57,589,569 (GRCm39)	T82A	possibly damaging	Het
Dnah3	T	A	7: 119,566,793 (GRCm39)	T2478S	possibly damaging	Het
Dnah3	T	G	7: 119,567,182 (GRCm39)	D2348A	probably damaging	Het
Dnah5	T	C	15: 28,343,737 (GRCm39)	I2379T	probably damaging	Het
Dnah6	A	G	6: 73,069,175 (GRCm39)	I2504T	probably damaging	Het
Dnase1l2	A	C	17: 24,660,625 (GRCm39)	W138G	probably damaging	Het
Dop1b	T	A	16: 93,563,061 (GRCm39)	I855N	probably damaging	Het
Dsc3	T	A	18: 20,098,903 (GRCm39)	N759Y	possibly damaging	Het
Dtx2	C	T	5: 136,061,147 (GRCm39)	R510*	probably null	Het
Fat4	G	T	3: 38,941,264 (GRCm39)	M52I	probably benign	Het
Fat4	G	A	3: 39,050,239 (GRCm39)	E4034K	probably damaging	Het
Fezf2	T	C	14: 12,344,350 (GRCm38)	K279R	probably damaging	Het
Fsip2	G	T	2: 82,806,861 (GRCm39)	W1060L	possibly damaging	Het
G6pc1	T	A	11: 101,258,768 (GRCm39)	I49N	probably damaging	Het
Gars1	A	G	6: 55,054,757 (GRCm39)	E688G	probably null	Het
Gdf11	T	C	10: 128,721,111 (GRCm39)	N361S	probably benign	Het
Gli3	A	C	13: 15,900,965 (GRCm39)	M1451L	probably benign	Het
Heatr3	T	C	8: 88,876,945 (GRCm39)	I329T	probably benign	Het
Herc3	T	G	6: 58,861,960 (GRCm39)		probably null	Het
Igsf3	A	T	3: 101,338,612 (GRCm39)	I309F	probably benign	Het
Kif21b	C	T	1: 136,080,002 (GRCm39)	R513W	probably damaging	Het
Kif7	G	T	7: 79,348,989 (GRCm39)	H1195Q	probably benign	Het
Lpcat4	T	C	2: 112,072,887 (GRCm39)	V182A	possibly damaging	Het
Map3k21	T	A	8: 126,654,294 (GRCm39)	I371N	probably benign	Het
Mns1	G	A	9: 72,356,041 (GRCm39)		probably null	Het
Myo3a	A	G	2: 22,468,140 (GRCm39)	T465A	possibly damaging	Het
Nlrc4	A	T	17: 74,733,938 (GRCm39)	S992T	probably benign	Het
Notch4	G	A	17: 34,806,562 (GRCm39)	G1833E	possibly damaging	Het
Or52ad1	T	A	7: 102,995,316 (GRCm39)	Y273F	possibly damaging	Het
Or52n2	T	C	7: 104,542,110 (GRCm39)	T242A	probably damaging	Het
Or5g29	G	A	2: 85,420,985 (GRCm39)	V34I	probably benign	Het
Or5p5	A	T	7: 107,413,907 (GRCm39)	I39L	probably benign	Het
Or8a1b	A	T	9: 37,622,993 (GRCm39)	I194K	possibly damaging	Het
Pcdh9	G	A	14: 94,125,741 (GRCm39)	P143L	probably damaging	Het
Pik3cd	T	A	4: 149,747,660 (GRCm39)	T28S	probably damaging	Het
Pkd1	G	T	17: 24,795,566 (GRCm39)		probably null	Het
Plk4	A	T	3: 40,760,252 (GRCm39)	S383C	possibly damaging	Het
Plxna2	T	C	1: 194,326,297 (GRCm39)	L77P	probably damaging	Het
Ppm1f	T	C	16: 16,741,530 (GRCm39)	S335P	probably damaging	Het
Prr16	C	T	18: 51,436,349 (GRCm39)	P276L	probably damaging	Het
Rilp	A	G	11: 75,401,759 (GRCm39)		probably null	Het
Rspry1	A	G	8: 95,358,682 (GRCm39)		probably null	Het
Serpinb9b	T	C	13: 33,213,542 (GRCm39)	V33A	probably benign	Het
Slc4a10	C	A	2: 62,098,548 (GRCm39)	Q561K	probably damaging	Het
Smyd5	T	C	6: 85,415,118 (GRCm39)	I42T	possibly damaging	Het
Stk17b	T	C	1: 53,800,241 (GRCm39)	N246D	probably damaging	Het
Suco	T	C	1: 161,646,380 (GRCm39)		probably null	Het
Tecpr1	C	T	5: 144,141,515 (GRCm39)	V785M	possibly damaging	Het
Telo2	C	T	17: 25,320,642 (GRCm39)	V756I	probably benign	Het
Tgm1	C	T	14: 55,943,034 (GRCm39)	R602H	probably benign	Het
Timeless	A	G	10: 128,080,056 (GRCm39)	T402A	probably damaging	Het
Tnfaip2	T	A	12: 111,416,325 (GRCm39)		probably null	Het
Trgc3	C	A	13: 19,445,164 (GRCm39)	F37L	probably damaging	Het
Trim5	A	G	7: 103,914,828 (GRCm39)	S414P	probably damaging	Het
Txnip	A	G	3: 96,467,066 (GRCm39)	T247A	possibly damaging	Het
Vmn1r174	A	T	7: 23,454,050 (GRCm39)	T239S	probably damaging	Het
Vmn1r231	T	A	17: 21,110,212 (GRCm39)	E234D	probably damaging	Het
Zranb3	A	T	1: 127,887,480 (GRCm39)	N982K	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
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
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'- TGGCTGTAGCTCCTCAAATTG -3'
(R):5'- TGAGAGCAGATATGTCCAGATTGAG -3'

Sequencing Primer
(F):5'- GGCTGTAGCTCCTCAAATTGTAATG -3'
(R):5'- GAGAAAGGAATTTCATGATGAGCTTC -3'

Posted On

2014-08-25