Mutagenetix > Incidental Mutation

Incidental Mutation 'R5994:Hrnr'

480983

Institutional Source

Beutler Lab

Gene Symbol

Hrnr

Ensembl Gene

ENSMUSG00000041991

Gene Name

hornerin

Synonyms

1110033K19Rik, A530063N20Rik, S100a18

MMRRC Submission

044173-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5994 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

93227056-93240877 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93239607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 3282 (S3282P)

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: S3105P

SMART Domains

Protein: ENSMUSP00000088369
Gene: ENSMUSG00000041991
AA Change: S3105P

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: S3282P

SMART Domains

Protein: ENSMUSP00000091288
Gene: ENSMUSG00000041991
AA Change: S3282P

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: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,647,862 (GRCm39)	H1118L	probably benign	Het
Abca8b	A	G	11: 109,840,592 (GRCm39)		probably null	Het
Abcb5	A	T	12: 118,928,995 (GRCm39)		probably null	Het
Adcy6	A	T	15: 98,491,545 (GRCm39)	I1016N	probably damaging	Het
Afg3l2	A	T	18: 67,562,140 (GRCm39)	C312S	probably damaging	Het
Ano8	C	T	8: 71,937,478 (GRCm39)	V89M	probably damaging	Het
Arhgap21	C	T	2: 20,886,187 (GRCm39)	G330D	possibly damaging	Het
Caskin1	T	C	17: 24,715,935 (GRCm39)	L195P	probably damaging	Het
Cfap54	A	G	10: 92,874,943 (GRCm39)	I514T	probably damaging	Het
Ctdsp2	G	A	10: 126,831,689 (GRCm39)		probably benign	Het
Cyp4x1	T	C	4: 114,979,142 (GRCm39)	I152V	probably benign	Het
Dglucy	G	A	12: 100,808,959 (GRCm39)	R219Q	probably benign	Het
Disp3	G	T	4: 148,338,741 (GRCm39)	A810E	possibly damaging	Het
Dtx4	T	C	19: 12,478,517 (GRCm39)	Y22C	probably damaging	Het
Edaradd	A	T	13: 12,493,377 (GRCm39)	I105N	probably damaging	Het
Eepd1	C	T	9: 25,514,749 (GRCm39)	P519S	probably damaging	Het
Fscn3	A	T	6: 28,430,294 (GRCm39)	S155C	probably benign	Het
Gm10134	A	T	2: 28,396,258 (GRCm39)	E51V	probably damaging	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Golga7	T	C	8: 23,740,281 (GRCm39)	E83G	probably benign	Het
Gpr12	T	C	5: 146,520,241 (GRCm39)	H227R	probably damaging	Het
Hoxa2	T	G	6: 52,141,372 (GRCm39)	S85R	possibly damaging	Het
Ift74	C	A	4: 94,579,961 (GRCm39)	T543K	possibly damaging	Het
Klf10	C	A	15: 38,296,285 (GRCm39)	R420L	probably damaging	Het
Krt77	T	A	15: 101,771,290 (GRCm39)	I338F	probably damaging	Het
Limch1	A	T	5: 67,131,965 (GRCm39)	S152C	probably damaging	Het
Mgat4e	T	A	1: 134,469,234 (GRCm39)	H270L	probably benign	Het
Myrf	A	T	19: 10,196,481 (GRCm39)	L504Q	probably null	Het
Nckipsd	A	G	9: 108,691,176 (GRCm39)	Q366R	probably benign	Het
Npy5r	A	T	8: 67,134,751 (GRCm39)	V14D	probably benign	Het
Nrap	T	A	19: 56,340,031 (GRCm39)	R830*	probably null	Het
Ogfrl1	A	T	1: 23,418,070 (GRCm39)	Y103N	probably damaging	Het
Or10g7	A	T	9: 39,905,519 (GRCm39)	R138*	probably null	Het
P2rx4	T	A	5: 122,863,142 (GRCm39)	L232H	probably damaging	Het
Pabpc2	A	T	18: 39,906,947 (GRCm39)	T71S	probably benign	Het
Paip2b	C	A	6: 83,785,867 (GRCm39)	S121I	probably damaging	Het
Pofut1	C	T	2: 153,103,149 (GRCm39)	T261I	possibly damaging	Het
Ppp6c	G	T	2: 39,101,004 (GRCm39)	T46K	possibly damaging	Het
Prkd2	C	A	7: 16,584,261 (GRCm39)	H371Q	probably benign	Het
Prrc2c	A	T	1: 162,501,725 (GRCm39)		probably null	Het
Psd3	C	T	8: 68,172,620 (GRCm39)	A894T	probably damaging	Het
Pygm	A	T	19: 6,448,073 (GRCm39)		probably null	Het
Pzp	A	T	6: 128,468,560 (GRCm39)	M989K	probably damaging	Het
Ralgapa2	A	T	2: 146,203,373 (GRCm39)	S1159T	probably benign	Het
Rapgefl1	T	C	11: 98,740,986 (GRCm39)	F575L	probably benign	Het
Rassf6	A	G	5: 90,765,627 (GRCm39)	L28S	probably damaging	Het
Rbp3	G	T	14: 33,676,857 (GRCm39)	K268N	probably damaging	Het
Rela	C	T	19: 5,697,092 (GRCm39)	T433M	possibly damaging	Het
Rnf103	T	A	6: 71,473,894 (GRCm39)	S102R	probably damaging	Het
Scarf2	A	G	16: 17,624,243 (GRCm39)	N516S	probably damaging	Het
Sdcbp2	T	C	2: 151,429,403 (GRCm39)	I241T	probably damaging	Het
Septin7	T	C	9: 25,199,494 (GRCm39)	I131T	possibly damaging	Het
Sh3pxd2b	T	C	11: 32,357,570 (GRCm39)	F191L	probably damaging	Het
Siglec15	C	A	18: 78,090,590 (GRCm39)	C236F	probably damaging	Het
Slc11a2	T	C	15: 100,295,562 (GRCm39)	T520A	probably benign	Het
Slc26a11	C	A	11: 119,270,738 (GRCm39)	F553L	probably benign	Het
Smchd1	G	A	17: 71,672,404 (GRCm39)	P1596S	possibly damaging	Het
Taar7b	A	G	10: 23,876,246 (GRCm39)	H137R	probably damaging	Het
Thap12	T	A	7: 98,365,237 (GRCm39)	C468*	probably null	Het
Timp4	C	T	6: 115,224,315 (GRCm39)	G118D	probably damaging	Het
Tnnt3	A	G	7: 142,065,003 (GRCm39)	K48E	probably damaging	Het
Trmt10a	T	A	3: 137,862,475 (GRCm39)	I255N	probably damaging	Het
Ttll10	T	C	4: 156,133,189 (GRCm39)		probably null	Het
Tut7	T	G	13: 59,937,023 (GRCm39)	Y806S	probably damaging	Het
Ube4b	A	G	4: 149,457,389 (GRCm39)	Y283H	probably damaging	Het
Ucp1	G	T	8: 84,020,567 (GRCm39)	V126L	possibly damaging	Het
Unc13b	T	A	4: 43,172,596 (GRCm39)		probably benign	Het
Vps13b	T	C	15: 35,875,918 (GRCm39)	S2768P	probably damaging	Het
Zfp101	T	A	17: 33,599,936 (GRCm39)	M607L	probably benign	Het
Zfp292	C	T	4: 34,805,464 (GRCm39)	V2527M	possibly damaging	Het
Zfp503	T	A	14: 22,035,630 (GRCm39)	T429S	possibly damaging	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
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'- CTAGCTACAGAGAACAGGGACTTG -3'
(R):5'- CAGCCTGAGGAGGTTTCTAC -3'

Sequencing Primer
(F):5'- CAGGGACTTGGTTCAAATCAGTC -3'
(R):5'- AGGAGGTTTCTACTTGTCTATGCAC -3'

Posted On

2017-06-26